G. Nishimura

发表

New brittle bone disorder: report of a family with six affected individuals.

T. Iwaya, N. Haga, G. Nishimura, 1999, American journal of medical genetics.

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family

H. Ohashi, Y. Miyamoto, S. Ikegawa, 2007, Human Genetics.

Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co‐activator CBFB

Y. Fukushima, K. Kosaki, Takao Takahashi, 2004, Congenital anomalies.

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

Y. Makita, H. Ohashi, S. Ikegawa, 2004, Human Genetics.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

N. Niikawa, Jooyoung Lee, K. Joo, 2014, Cellular signalling.

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

M. Tominaga, D. Chitayat, M. Deardorff, 2018, American journal of human genetics.

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

C. Ki, Y. Sohn, S. Kim, 2011, Human Genetics.

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Brian J. Stevenson, R. Baron, R. Eastell, 2016, The New England journal of medicine.

Two new cases of pure 1q terminal deletion presenting with brain malformations

M. Yamasaki, Y. Kanemura, N. Matsumoto, 2008, American journal of medical genetics. Part A.

A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: A new syndrome?

G. Nishimura, T. Nagai, 1998, Journal of Human Genetics.

Skeletal ciliopathies: a pattern recognition approach

G. Nishimura, Atsuhiko Handa, G. Grigelioniene, 2020, Japanese Journal of Radiology.

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

A. Ferguson-Smith, T. Ogata, K. Kosaki, 2008, Nature Genetics.

TRPV4‐pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

T. Cho, K. Shimizu, S. Ikegawa, 2012, American journal of medical genetics. Part A.

TRPV4-pathy, a novel channelopathy affecting diverse systems

T. Cho, S. Ikegawa, A. Superti-Furga, 2010, Journal of Human Genetics.

Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

K. Kosaki, C. Torii, G. Nishimura, 2010, American journal of medical genetics. Part A.

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

G. Pazour, J. Follit, M. Schmidts, 2019, JCI insight.

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia

Long Guo, N. Matsumoto, H. Ohashi, 2022, Clinical genetics.

Enchondromatosis revisited: New classification with molecular basis

A. Superti-Furga, G. Nishimura, J. Spranger, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Long Guo, T. Nakashima, N. Matsumoto, 2021, Nature Communications.

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

B. Zabel, V. Cormier-Daire, A. Superti-Furga, 2009, American journal of human genetics.

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

A. Nordgren, D. Chitayat, J. Eisfeldt, 2021, Journal of Human Genetics.

A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.

H. Masuya, S. Wakana, T. Noda, 2007, Human molecular genetics.

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type

H. Masuya, S. Wakana, T. Kudo, 2011, Mammalian Genome.

Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes

C. Chung, Hae-Ryong Song, S. Y. Kim, 2011, American journal of medical genetics. Part A.

The phenotypic spectrum of COL2A1 mutations

H. Ohashi, S. Ikegawa, N. Haga, 2005, Human mutation.

A de novo deletion of 20q11.2–q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2011, American journal of medical genetics. Part A.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Ankita Patel, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report

M. Uetani, G. Nishimura, T. Kubota, 2001, Pediatric Radiology.

Posterior reversible encephalopathy syndrome in children: its high prevalence and more extensive imaging findings.

H. Asanuma, G. Nishimura, K. Ishikura, 2006, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.

Y. Kamei, H. Ohashi, T. Suganami, 2007, The Journal of clinical endocrinology and metabolism.

Low-intensity fetal lungs on MRI may suggest the diagnosis of pulmonary hypoplasia

G. Nishimura, Hiroshi Watanabe, M. Fujioka, 2001, Pediatric Radiology.

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

G. Nishimura, T. Nagai, T. Hasegawa, 1995, American journal of medical genetics.

Achondroplasia and enchondromatosis: report of three boys

G. Nishimura, Hironori Kobayashi, Y. Hasegawa, 2007, Skeletal Radiology.

Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features

T. Ogata, F. Ishino, T. Okuyama, 2005, American journal of medical genetics. Part A.

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia

Y. Toyama, K. Chiba, H. Ohashi, 2008, Journal of Human Genetics.

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia

Y. Miyamoto, S. Ikegawa, G. Nishimura, 2006, American journal of medical genetics. Part A.

Hypomorphic mutations of TRIP11 cause

G. Pazour, M. Schmidts, A. Bloch-Zupan, 2019 .

Paternal UPD14 is responsible for a distinctive malformation complex.

Y. Kuroki, T. Okuyama, G. Nishimura, 2002, American journal of medical genetics.

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

H. Kayserili, N. Elçioglu, H. Ohashi, 2013, Human mutation.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia

A. Takahashi, N. Matsumoto, Hae-Ryong Song, 2011, Journal of Human Genetics.

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

N. Matsumoto, G. Baynam, T. Cho, 2010, Journal of Medical Genetics.

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Hae-Ryong Song, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.

Z. Gucev, V. Tasic, D. Plaseska-Karanfilska, 2019, European journal of medical genetics.

TNFRSF11A‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum

Long Guo, T. Nakashima, Z. Wang, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

TRPV4‐associated skeletal dysplasias

S. Ikegawa, B. Zabel, A. Superti-Furga, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Contrast-enhanced MRI of an early preosseous lesion of fibrodysplasia ossificans progressiva in a 21-month-old boy.

K. Fujita, G. Nishimura, N. Aida, 2003, AJR. American journal of roentgenology.

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

R. Hennekam, H. Tonoki, R. Hennekam, 2010, Journal of Medical Genetics.

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Long Guo, N. Matsumoto, N. Elçioglu, 2017, Journal of Human Genetics.

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation

T. Ogata, H. Saitsu, G. Nishimura, 2019, Journal of Human Genetics.

Effect of anakinra on arthropathy in CINCA/NOMID syndrome

G. Nishimura, U. Kaneko, T. Kishi, 2010, Pediatric rheumatology online journal.

PAPSS2 mutations cause autosomal recessive brachyolmia

N. Matsumoto, N. Elçioglu, T. Cho, 2012, Journal of Medical Genetics.

Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

A. Mégarbané, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

Microcephalic osteodysplastic primordial short stature type II with cafe‐au‐lait spots and moyamoya disease

G. Nishimura, T. Hasegawa, M. Fujino, 2003, American journal of medical genetics. Part A.

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

Y. Fukushima, A. Nakamura, Kunihiro Yoshida, 2007, American journal of medical genetics. Part A.

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported

T. Okuyama, M. Kosuga, Y. Fukuhara, 2018, Clinical dysmorphology.

Nosology and classification of genetic skeletal disorders: 2015 revision

Sheila Unger, Stefan Mundlos, Luca Sangiorgi, 2015, American journal of medical genetics. Part A.

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

M. Kimura, G. Nishimura, K. Hosomichi, 2019, BMC Medical Genetics.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

A. Singleton, K. Fischbeck, A. Vanderver, 2019, American journal of human genetics.

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

T. Soyer, G. Nishimura, M. Alikaşifoğlu, 2019, European journal of medical genetics.

Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis

G. Nishimura, M. Alikaşifoğlu, E. Taşkiran, 2018, American journal of medical genetics. Part A.

Additional report on Moreno‐Nishimura‐Schmidt overgrowth syndrome

G. Nishimura, K. Muroya, T. Ishii, 2017, American journal of medical genetics. Part A.

Follow-Up Study on Fetal CT Radiation Dose in Japan: Validating the Decrease in Radiation Dose.

G. Nishimura, Takahiro Yamada, J. Murotsuki, 2017, AJR. American journal of roentgenology.

Mutation analysis of FGFR1‐3 in 11 Japanese patients with syndromic craniosynostoses

T. Ogata, G. Nishimura, H. Suzumura, 2017, American journal of medical genetics. Part A.

Bone dysplasia families

G. Nishimura, 2017 .

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

Y. Iwamoto, S. Ikegawa, G. Nishimura, 2016, Human Genome Variation.

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

D. Eyre, G. Nishimura, R. Fukuzawa, 2012, PloS one.

List of key features Abnormalities of the metaphyses , epiphyses , and vertebral bodies Disproportionate short stature

T. Okuyama, M. Kosuga, Y. Fukuhara, 2018 .

The phenotype range of achondrogenesis 1A

O. Mäkitie, A. Nordgren, G. Nishimura, 2013, American journal of medical genetics. Part A.

Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three‐dimensional helical computed tomography

A. Kikuchi, T. Horikoshi, G. Nishimura, 2009, Prenatal diagnosis.

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

R. Kosaki, Y. Makita, S. Ikegawa, 2004, Journal of Medical Genetics.

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism

M. Tominaga, G. Nishimura, S. Ninomiya, 2020, The Journal of Physiological Sciences.

Spondylometaphyseal dysplasia with cone‐rod dystrophy

Toshiyuki Yamamoto, M. Kondo, G. Nishimura, 2011, American journal of medical genetics. Part A.

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Long Guo, N. Matsumoto, Z. Wang, 2020, Journal of Human Genetics.

Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report

Yukichi Tanaka, G. Nishimura, N. Aida, 2015, American journal of medical genetics. Part A.

Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report

G. Nishimura, H. Suzumura, O. Arisaka, 2002, Pediatric Radiology.

BCG osteomyelitis: tips for diagnosis

M. Jinzaki, G. Nishimura, T. Nozaki, 2022, Skeletal Radiology.

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

H. Ohashi, S. Ikegawa, G. Nishimura, 2006, Clinical Rheumatology.

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia

R. Kosaki, H. Ohashi, S. Ikegawa, 2005, American journal of medical genetics. Part A.

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia

Kozo Nakamura, N. Brunetti‐Pierri, H. Ohashi, 2002, Human Genetics.

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

Yusuke Nakamura, Y. Fukushima, H. Ohashi, 1998, Human Genetics.

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

Murim Choi, J. Ko, G. Nishimura, 2021, Human genome variation.

Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.

K. Yoshiura, G. Nishimura, A. Kinoshita, 2020, European journal of medical genetics.

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

R. Kosaki, H. Ohashi, S. Ikegawa, 2004, Human mutation.

Skeletal abnormalities are common features in Aymé‐Gripp syndrome

B. Dallapiccola, M. Tartaglia, A. Tzschach, 2020, Clinical genetics.

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

G. Nishimura, J. Akiba, Wen Zhou, 2022, HGG advances.

Severe manifestations of hand‐foot‐genital syndrome associated with a novel HOXA13 mutation

H. Kayserili, N. Matsumoto, N. Miyake, 2014, American journal of medical genetics. Part A.

Spinal deformity after intra-operative radiotherapy for paediatric patients.

E. Kunieda, G. Nishimura, H. Masaki, 2010, The British journal of radiology.

Patterns of local recurrence after intraoperative radiotherapy for advanced neuroblastoma.

T. Nagaoka, E. Kunieda, G. Nishimura, 2008, Japanese journal of clinical oncology.

Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay

N. Okamoto, Toshiyuki Yamamoto, G. Nishimura, 2011, American journal of medical genetics. Part A.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Dongsup Kim, W. Park, K. Girisha, 2016, American journal of human genetics.

Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome

Y. Fukushima, N. Matsumoto, M. Shiina, 2010, Human mutation.

Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

G. Nishimura, N. Suzumori, T. Hasegawa, 2012, American journal of medical genetics. Part A.

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

N. Matsumoto, M. Shiina, K. Ogata, 2013, Journal of Human Genetics.

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

T. Ogata, H. Ohashi, G. Nishimura, 1999, The Journal of clinical endocrinology and metabolism.

Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways

G. Nishimura, G. Grigelioniene, 2020, EBioMedicine.

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

A. Saito, H. Ohashi, S. Ikegawa, 2015, Human molecular genetics.

Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene

D. Chitayat, S. Blaser, A. Howard, 2012, American journal of medical genetics. Part A.

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

H. Kayserili, G. Nishimura, U. Altunoğlu, 2022, Prenatal diagnosis.

Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta

C. Ki, N. Matsumoto, Y. Sohn, 2015, Human mutation.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

A. Nordgren, P. Shannon, D. Chitayat, 2017, Scientific Reports.

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

A. Offiah, Diana S. Johnson, G. Nishimura, 2014, American journal of medical genetics. Part A.

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

Y. Fukushima, N. Matsumoto, F. Hirahara, 2011, Journal of Human Genetics.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

A. Takata, N. Matsumoto, M. Shiina, 2018, Human molecular genetics.

MR findings of bowlegs in toddlers

G. Nishimura, N. Aida, T. Iwasawa, 1999, Pediatric Radiology.

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

S. Kapoor, A. Offiah, Deepak Kumar, 2020, Journal of Medical Genetics.

Nephrotic state as a risk factor for developing posterior reversible encephalopathy syndrome in paediatric patients with nephrotic syndrome.

G. Nishimura, K. Ishikura, Y. Hamasaki, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification

G. Nishimura, Hironori Kobayashi, Y. Hasegawa, 2005, Journal of Bone and Mineral Metabolism.

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Long Guo, N. Matsumoto, N. Elçioglu, 2017, Human Genome Variation.

Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II

H. Ozawa, G. Nishimura, T. Nagai, 2005, Brain and Development.

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

M. Masuno, Y. Kuroki, G. Nishimura, 1995, Journal of medical genetics.

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

P. Nürnberg, Shahida Moosa, J. Altmüller, 2016, American journal of medical genetics. Part A.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

D. Horn, S. Mundlos, M. Spielmann, 2015, Journal of Medical Genetics.

Further evidence of POP1 mutations as the cause of anauxetic dysplasia

G. Nishimura, S. Elalaoui, A. Sefiani, 2016, American journal of medical genetics. Part A.

Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability

D. Schlessinger, G. Pruijn, R. Nagaraja, 2007, American journal of medical genetics. Part A.

Trabecular trauma of the talus and medial malleolus concurrent with lateral collateral ligamentous injuries of the ankle: evaluation with MR imaging

G. Nishimura, M. Yamato, M. Togawa, 1996, Skeletal Radiology.

Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation

S. Ikegawa, G. Nishimura, H. Minakami, 2012, American journal of medical genetics. Part A.

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

Long Guo, N. Matsumoto, Z. Wang, 2021, Journal of Human Genetics.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

H. Scott, A. Schreiber, C. Barnett, 2020, Journal of Medical Genetics.

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

G. Nishimura, Y. Hasegawa, S. Higuchi, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

T. Cho, G. Nishimura, E. Kuchinskaya, 2016, Orphanet Journal of Rare Diseases.

Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia

G. Mortier, K. Hatakeyama, G. Nishimura, 2011, Molecular Syndromology.

Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography

G. Nishimura, R. Wada, H. Sawai, 2011, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

A Japanese patient with a mild Lenz-Majewski syndrome

K. Yoshiura, G. Nishimura, A. Kinoshita, 2007, Journal of Human Genetics.

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

D. Rimoin, B. Kerr, H. Ohashi, 2007, Journal of Medical Genetics.

Metaphyseal dysplasia of Braun–Tinschert type: Report of a Japanese girl

Y. Kuroda, S. Ikegawa, G. Nishimura, 2006, American journal of medical genetics. Part A.

Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child

G. Nishimura, T. Hasegawa, E. Kinoshita, 2004, American journal of medical genetics. Part A.

Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia

G. Nishimura, Takahiro Yamada, J. Murotsuki, 2017, Prenatal diagnosis.

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Sheila Unger, Andrea Superti-Furga, Stefan Mundlos, 2011, American journal of medical genetics. Part A.

Development of individuals with thanatophoric dysplasia surviving beyond infancy

G. Nishimura, H. Shibahara, H. Numabe, 2021, Pediatrics international : official journal of the Japan Pediatric Society.

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

T. Ogata, H. Ohashi, S. Ikegawa, 2000, American journal of medical genetics.

Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls

Y. Fukushima, H. Ohashi, H. Kato, 2005, American journal of medical genetics. Part A.

Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone Analysis

T. Ogata, G. Nishimura, T. Ohashi, 2006, Pediatric Research.

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

T. Ogata, K. Tachibana, Toshiaki Tanaka, 2005, The Journal of clinical endocrinology and metabolism.

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

T. Ogata, K. Fujieda, G. Nishimura, 2009, The Journal of clinical endocrinology and metabolism.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

T. Ogata, G. Nishimura, H. Kitoh, 2002, The Journal of clinical endocrinology and metabolism.

A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations

Y. Fukushima, N. Matsumoto, T. Kosuda, 2010, American journal of medical genetics. Part A.

Epithelioid sarcoma with unusual radiological findings

G. Nishimura, K. Tamai, Takehiko Yamaguchi, 1997, Skeletal Radiology.

Nosology and classification of genetic skeletal disorders: 2019 revision

D. Sillence, S. Mundlos, S. Robertson, 2019, American journal of medical genetics. Part A.

Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia

M. Masuno, K. Tachibana, G. Nishimura, 1997, European Journal of Pediatrics.

SHOX haploinsufficiency and overdosage: impact of gonadal function status

T. Ogata, G. Nishimura, N. Matsuo, 2001, Journal of medical genetics.

Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report

S. Ikegawa, N. Haga, G. Nishimura, 2018, BMC Research Notes.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.

Discordant fetal phenotype of hypophosphatasia in two siblings

G. Nishimura, Kanako Tachikawa, T. Michigami, 2018, American journal of medical genetics. Part A.

Radiological evolution in IMAGe association: A case report

G. Nishimura, T. Hasegawa, Satoshi Narumi, 2008, American journal of medical genetics. Part A.

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients

T. Ogata, G. Nishimura, T. Hasegawa, 2014, Clinical endocrinology.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

Brian J. Stevenson, G. Superti-Furga, C. Ross, 2017, Nature genetics.

Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).

D. Chitayat, G. Costain, M. Inbar‐Feigenberg, 2018, Journal of pediatric genetics.

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

G. Mortier, A. Moirangthem, K. Girisha, 2019, American journal of medical genetics. Part A.

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

C. Cancrini, A. Nordgren, M. Irving, 2021, American journal of medical genetics. Part A.

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification

S. Robertson, I. Nonaka, I. Nishino, 2009, Neuromuscular Disorders.

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

R. Kosaki, G. Nishimura, H. Sago, 2012, Pediatric Radiology.

Ischio-spinal dysostosis: a previously unrecognised combination of malformations

G. Nishimura, E. Nii, M. Kimizuka, 1999, Pediatric Radiology.

E. Tobias, G. Mortier, T. Iwaya, 2007, American journal of medical genetics. Part A.

Czech dysplasia occurring in a Japanese family

G. Nishimura, Kanako Tachikawa, T. Michigami, 2009, American journal of medical genetics. Part A.

Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias

G. Nishimura, J. Murotsuki, H. Sawai, 2014, Pediatric Radiology.

Prenatal diagnosis of short‐rib polydactyly syndrome type 3 (Verma‐Naumoff type) by three‐dimensional helical computed tomography

H. Shirato, K. Nishida, G. Nishimura, 2011, The journal of obstetrics and gynaecology research.

Prenatal Diagnosis of Thanatophoric Dysplasia by 3-D Helical Computed Tomography and Genetic Analysis

H. Kurachi, G. Nishimura, K. Hayasaka, 2008, Fetal Diagnosis and Therapy.

Prenatal diagnosis of chondrodysplasia punctata tibia–metacarpal type using multidetector CT and three-dimensional reconstruction

G. Nishimura, H. Sago, N. Watanabe, 2007, Pediatric Radiology.

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

R. Kosaki, K. Kosaki, Takao Takahashi, 2006, American journal of medical genetics. Part A.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Hiroshi I. Suzuki, P. Sharp, A. Nordgren, 2019, Nature Medicine.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Hiroshi I. Suzuki, P. Sharp, A. Nordgren, 2019, Nature Medicine.

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

N. Tanaka, H. Ohashi, S. Ikegawa, 2002, Human Genetics.

Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐B receptor (LBR)‐related regressive spondylometaphyseal dysplasia

G. Nishimura, U. Altunoğlu, B. Karaman, 2021, American journal of medical genetics. Part A.

Ischiospinal dysostosis with cystic kidney disease: report of two cases

G. Nishimura, O. Kim, T. Hasegawa, 2003, Clinical dysmorphology.

Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri–Weill dyschondrosteosis in her 46,XX mother: Implication for the SHOX enhancer

T. Ogata, T. Okuyama, G. Nishimura, 2005, American journal of medical genetics. Part A.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

T. Nakazawa, Z. Wang, N. Matsumoto, 2016, PloS one.

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

A. Ryo, K. Ihara, N. Matsumoto, 2017, Human mutation.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

L. Sangiorgi, L. Boccone, B. Zabel, 2008, American journal of human genetics.

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

G. Nishimura, T. Hasegawa, M. Takagi, 2018, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Progressive hip joint subluxation in Saul‐Wilson syndrome

T. Kaname, K. Hata, G. Nishimura, 2015, American journal of medical genetics. Part A.

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2

G. Nishimura, Y. Hasegawa, M. Takagi, 2015, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

A. Janecke, M. Bros, C. Hübner, 2011, Nature Genetics.

Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation

K. Yamazawa, T. Ogata, G. Nishimura, 2006, American journal of medical genetics. Part A.

A neonate with an anomalous bone attached to the cervical spine.

G. Nishimura, K. Mizuno, K. Itabashi, 2013, The spine journal : official journal of the North American Spine Society.

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

Y. Tsurusaki, Y. Kuroda, G. Nishimura, 2019, Human Genome Variation.

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

T. Ogata, G. Nishimura, Tomoko Sato, 2012, European Journal of Human Genetics.

Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

T. Ogata, G. Nishimura, M. Kagami, 2011, Pediatric Radiology.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

Mental retardation — megaepiphyses —ulnar pseudoepiphyses — hypoplastic fibulae — brachymesophalangia: A new syndrome

G. Nishimura, K. Kozłowski, S. Ohba, 2005, Pediatric Radiology.

A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux

G. Nishimura, H. Kitoh, T. Hasegawa, 2020, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray

M. Emi, T. Shiihara, T. Matsuishi, 2010, American journal of medical genetics. Part A.

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

Y. Nakamura, H. Ohashi, S. Ikegawa, 1998, American journal of human genetics.

Prenatal findings of paternal uniparental disomy 14: Report of four patients

G. Nishimura, K. Kurosawa, H. Ishikawa, 2010, American journal of medical genetics. Part A.

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver–Russell syndrome

G. Nishimura, T. Yamagata, M. Goto, 2016, American journal of medical genetics. Part A.

Japanese type of spondylo-metaphyseal dysplasia

G. Nishimura, Y. Hasegawa, K. Kozłowski, 1994, Pediatric Radiology.

Axial spondylometaphyseal dysplasia

G. Nishimura, S. Ehara, Y. Takasago, 1997, European Journal of Pediatrics.

Clinical Report Radiological Evolution in IMAGe Association: A Case Report

G. Nishimura, T. Hasegawa, Satoshi Narumi, 2008 .

Asphyxiating Thoracic Dysplasia (Mim 208500)

A. Superti-Furga, G. Nishimura, S. Unger, 2012 .

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

S. Saito, N. Matsumoto, N. Miyake, 2014, Clinical genetics.

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Machiko Kadoya, Y. Wada, T. Ogata, 2022, Scientific Reports.

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

G. Nishimura, Y. Hasegawa, T. Hasegawa, 2015, American journal of medical genetics. Part A.

Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: Report of two patients

M. Uchiyama, G. Nishimura, T. Hasegawa, 2012, American journal of medical genetics. Part A.

Nonsense mutations in FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes

G. Nishimura, A. Saitoh, T. Kikuchi, 2018, American journal of medical genetics. Part A.

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

G. Pazour, M. Schmidts, A. Bloch-Zupan, 2019, JCI insight.

MR findings in iliotibial band syndrome

M. Uetani, G. Nishimura, K. Tamai, 1997, Skeletal Radiology.

Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

S. Takada, T. Ogata, G. Nishimura, 2012, American journal of medical genetics. Part A.

Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.

Y. Fukushima, N. Niikawa, Y. Makita, 2000, American journal of human genetics.

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Naoyuki Taniguchi, Jeffrey C. Murray, Kunihiro Yoshida, 2000, Nature Genetics.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

S. Takada, T. Ogata, K. Yoshiura, 2014, Orphanet Journal of Rare Diseases.

Isolated congenital anosmia locus maps to 18p11.23-q12.2

N. Niikawa, K. Yoshiura, P. Pasalar, 2004, Journal of Medical Genetics.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta

P. Nürnberg, B. Chung, Shahida Moosa, 2015, Clinical genetics.

Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation

H. Shinmoto, G. Nishimura, Mamoru Tanaka, 2002, Prenatal diagnosis.

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

O. Mäkitie, A. Warren, T. Cho, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria (MC‐HGA)

Sheila Unger, Andrea Superti-Furga, Ahmet Dursun, 2011, American journal of medical genetics. Part A.

ACAN biallelic variants in a girl with severe idiopathic short stature

T. Ogata, H. Saitsu, G. Nishimura, 2022, Journal of Human Genetics.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

D. Gisselsson, V. Shanmugasundaram, F. Alkuraya, 2020, The Journal of experimental medicine.

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome

N. Matsumoto, T. Kawagoe, N. Miyake, 2014, American journal of medical genetics. Part A.

A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

H. Shibata, G. Nishimura, T. Hasegawa, 2020, Human genome variation.

A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

H. Shibata, G. Nishimura, T. Hasegawa, 2020, Human Genome Variation.

Multisystem Imaging Manifestations of Kawasaki Disease.

M. Jinzaki, G. Nishimura, S. Nosaka, 2021, Radiographics : a review publication of the Radiological Society of North America, Inc.

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency

Mitsuhiro Kato, G. Nishimura, R. Fukuzawa, 2017, American journal of medical genetics. Part A.

Clinical Utility Gene Card for: campomelic dysplasia

B. Zabel, G. Nishimura, G. Scherer, 2012, European Journal of Human Genetics.

Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

A. Nordgren, J. Eisfeldt, D. Nilsson, 2018, Human mutation.

Criteria for radiologic diagnosis of hypochondroplasia in neonates

G. Nishimura, Shuhei Sato, A. Saitoh, 2016, Pediatric Radiology.

Abnormal Basiocciput Development in CHARGE Syndrome

K. Fujita, T. Niwa, G. Nishimura, 2009, American Journal of Neuroradiology.

Novel FIG4 mutations in Yunis–Varon syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2013, Journal of Human Genetics.

Congenital anomaly of cervical vertebrae is a major complication of Rubinstein–Taybi syndrome

N. Okamoto, Toshiyuki Yamamoto, G. Nishimura, 2005, American journal of medical genetics. Part A.

Antenatal three-dimensional sonographic features of Roberts syndrome

G. Nishimura, T. Hata, J. Murotsuki, 2011, Archives of Gynecology and Obstetrics.

Bifid epiglottis: Syndromic constituent rather than isolated anomaly

G. Nishimura, K. Ishikura, H. Hataya, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Brian J. Stevenson, G. Superti-Furga, S. Pradervand, 2013, American journal of human genetics.

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

Jung‐Wook Kim, T. Cho, S. Ikegawa, 2013, American journal of medical genetics. Part A.

Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs

G. Nishimura, H. Kawame, K. Kurosawa, 1998, Pediatric Radiology.

Fetal polycystic kidney disease in oro-facio-digital syndrome type I

G. Nishimura, T. Kubota, Hiroshi Watanabe, 1999, Pediatric Radiology.

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Long Guo, Hitesh Shah, N. Matsumoto, 2016, Journal of Human Genetics.

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

M. Nakajima, S. Ikegawa, N. Haga, 2007, Journal of Human Genetics.

Calcified leiomyoma of deep soft tissue in a child

G. Nishimura, Y. Koguchi, M. Yamato, 1999, Pediatric Radiology.

Acute gastric outlet obstruction following the administration of prostaglandin: an additional case

G. Nishimura, N. Aida, M. Ohta, 1997, Pediatric Radiology.

Colovesical fistula due to sigmoid colon diverticulitis: a case report.

G. Nishimura, O. Yokoyama, M. Ohkawa, 1995, Hinyokika kiyo. Acta urologica Japonica.

First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation

G. Nishimura, K. Kurosawa, K. Muroya, 2012, American journal of medical genetics. Part A.

MRI findings of dysplasia epiphysealis hemimelica

G. Nishimura, N. Aida, T. Iwasawa, 2005, Pediatric Radiology.

MR appearance at different ages of osteoporotic compression fractures of the vertebrae.

G. Nishimura, M. Fujioka, M. Yamato, 1998, Radiation medicine.

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

K. Tachibana, G. Nishimura, M. Adachi, 1999, Endocrine journal.

Progressive Osseous Heteroplasia Caused by a Novel Nonsense Mutation in the GNAS1 Gene

H. Mabe, G. Nishimura, N. Katsumata, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

De novo deletion of 1q24.3‐q31.2 in a patient with severe growth retardation

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2010, American journal of medical genetics. Part A.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

G. Mortier, K. Girisha, A. Shukla, 2018, Human mutation.

Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger

H. Kayserili, G. Nishimura, Y. Hasegawa, 2015, Pediatric Radiology.

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1

G. Nishimura, T. Hasegawa, M. Takagi, 2014, Human Genome Variation.

Heterozygous C‐propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant

Yukichi Tanaka, G. Nishimura, Y. Chinen, 2011, American journal of medical genetics. Part A.

A case of megalocornea–mental retardation syndrome complicated with bilateral sensorineural hearing impairment

T. Matsuzaka, Y. Tsuji, G. Nishimura, 1999, Pediatrics international : official journal of the Japan Pediatric Society.

Molecular Basis for Hypochondroplasia in Japan

G. Nishimura, T. Hasegawa, F. Takada, 2022, Endocrines.

Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period

N. Sakuragi, G. Nishimura, H. Minakami, 2004, Prenatal diagnosis.

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.

N. Niikawa, Y. Makita, S. Ikegawa, 2002, American journal of medical genetics.

Hyperostosis generalisata with striations of the bones: report of a female case and a review of the literature

G. Nishimura, Yoko Tanaka, H. Fujimoto, 1999, Skeletal Radiology.

New Congenital Malformation Syndrome with Severe Short Stature, Craniosynostosis, and Generalized Osseous Dysplasia in Two Siblings; New Osseous Dysplasia in Two Siblings

K. Tachibana, G. Nishimura, N. Aida, 1994 .

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

G. Nishimura, H. Yoshihashi, T. Hasegawa, 2017, European journal of medical genetics.

Stippled calcification in an infant with a recurrent SRCAP gene mutation

G. Nishimura, Y. Hasegawa, T. Hasegawa, 2016, American journal of medical genetics. Part A.

Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?

Y. Makita, S. Ikegawa, G. Nishimura, 2000, American journal of medical genetics.

Generalized metaphyseal modification with cone-shaped epiphyses following long-term administration of 13-cis-retinoic acid

H. Mugishima, G. Nishimura, M. Yamato, 1997, European Journal of Pediatrics.

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia

T. Ogata, H. Ohashi, S. Ikegawa, 2006, Journal of Human Genetics.

RMRP mutations in Japanese patients with cartilage‐hair hypoplasia

H. Ohashi, S. Ikegawa, G. Nishimura, 2003, American journal of medical genetics. Part A.

Propositus with Weaver syndrome and his mildly-affected mother: implication of nontraditional inheritance?

G. Nishimura, T. Nagai, T. Hasegawa, 1996, American journal of medical genetics.

A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2014, American journal of medical genetics. Part A.

SLC4A2 Deficiency Causes a New Type of Osteopetrosis

Long Guo, N. Matsumoto, N. Miyake, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Dysosteosclerosis is also caused by TNFRSF11A mutation

Long Guo, N. Matsumoto, N. Miyake, 2018, Journal of Human Genetics.

Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome

H. Ohashi, G. Nishimura, Shigeyasu Kazama, 2004, Pediatrics international : official journal of the Japan Pediatric Society.

Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome.

G. Nishimura, A. Harigaya, M. Kuwashima, 1997, American journal of medical genetics.

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Long Guo, Y. Liu, A. Nordgren, 2017, Journal of Human Genetics.

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

Long Guo, N. Matsumoto, N. Miyake, 2016, Journal of Human Genetics.

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

H. Kayserili, H. Koseki, S. Ikegawa, 2009, Journal of Medical Genetics.

Sonographic Visualization of Fecal Loading in Adults

H. Sanada, G. Nakagami, G. Nishimura, 2015 .

A gastric duplication cyst of the pancreas associated with a bifid tail causing pancreatitis

G. Nishimura, R. Fukuzawa, K. Komori, 2013 .

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

A. Bayat, M. Kirchhoff, G. Nishimura, 2020, Molecular Syndromology.

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

K. Girisha, A. Shukla, G. Nishimura, 2017, Journal of Pediatric Genetics.

Painless lumps in the proximal interphalangeal joints in tricho‐rhino‐phalangeal syndrome type 1

H. Yamanaka, G. Nishimura, Y. Shimomura, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

G. Nishimura, K. Higashi, G. Takada, 2001, Clinical genetics.

Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death.

T. Kamimaki, G. Nishimura, M. Tojo, 2002, American journal of medical genetics.

Hajdu–Cheney syndrome: Infantile onset of hydrocephalus and serpentine fibulae

Y. Kohno, G. Nishimura, M. Minagawa, 2009, Pediatrics international : official journal of the Japan Pediatric Society.

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

Z. Wang, N. Matsumoto, N. Miyake, 2018, Journal of Human Genetics.

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type

H. Kayserili, N. Matsumoto, N. Miyake, 2016, American journal of medical genetics. Part A.

Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.

G. Nishimura, M. Sullivan, R. Fukuzawa, 2002, American journal of medical genetics.

Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis.

G. Nishimura, O. Shinohara, C. Kubota, 1991, American journal of medical genetics.

[Epiphyseal dysplasia, multiple].

G. Nishimura, 2001, Ryōikibetsu shōkōgun shirīzu.

Progressive bone resorption after pathological fracture of the femoral neck in Hunter's syndrome

H. Miki, G. Nishimura, A. Dezawa, 1999, Pediatric Radiology.

Syringohydromyelia in Hajdu-Cheney syndrome

N. Haga, G. Nishimura, K. Aoki, 2005, Pediatric Radiology.

Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome

Y. Fukushima, W. Park, Y. Rhee, 2013, American journal of medical genetics. Part A.

A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome

G. Nishimura, N. Ishiguro, H. Kitoh, 2013, American journal of medical genetics. Part A.

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone

S. Okada, Masao Kobayashi, G. Nishimura, 2017, Front. Endocrinol..

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

K. Yoshiura, G. Nishimura, A. Kinoshita, 2019, Journal of Human Genetics.

Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.

M. Masuno, K. Tachibana, Y. Kuroki, 1999, American journal of medical genetics.

Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.

G. Nishimura, G. Grigelioniene, A. Handa, 2023, Radiographics : a review publication of the Radiological Society of North America, Inc.

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

D. Horn, K. Rosendahl, D. Fitzpatrick, 2015, European journal of medical genetics.

Nosology of genetic skeletal disorders: 2023 revision

D. Sillence, S. Mundlos, S. Robertson, 2023, American journal of medical genetics. Part A.

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: A new clinical entity?

N. Niikawa, K. Yoshiura, G. Nishimura, 2004, American journal of medical genetics. Part A.

Radiologic Features of Type II and Type XI Collagenopathies.

G. Nishimura, G. Grigelioniene, A. Handa, 2020, Radiographics : a review publication of the Radiological Society of North America, Inc.

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type

K. Hayasaka, G. Nishimura, K. Imaizumi, 1998, Skeletal Radiology.

Diagnosis of Van den Ende–Gupta syndrome: Approach to the Marden–Walker‐like spectrum of disorders

L. Jerome-Majewska, P. Eydoux, G. Nishimura, 2016, American journal of medical genetics. Part A.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

S. Takada, T. Ogata, R. Kosaki, 2019, European Journal of Human Genetics.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

D. Chitayat, N. Matsumoto, Hironori Ito, 2013, American journal of human genetics.

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

Dongsup Kim, D. Kang, W. Park, 2011, American journal of human genetics.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

A. Nordgren, E. Eklund, D. Nilsson, 2015, European Journal of Human Genetics.

TGFB1 mutations in four new families with Camurati–Engelmann disease: Confirmation of independently arising LAP‐domain‐specific mutations

N. Niikawa, K. Yoshiura, Y. Fukumaki, 2004, American journal of medical genetics. Part A.

Microscopic intraosseous extension of osteosarcoma: assessment on dynamic contrast-enhanced MRI

Yukichi Tanaka, G. Nishimura, N. Aida, 1997, Skeletal Radiology.

Cyclic intravenous pamidronate in a very low‐birthweight infant with osteogenesis imperfecta

G. Nishimura, Satoshi Hada, M. Takagi, 2018, Pediatrics international : official journal of the Japan Pediatric Society.

A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types

G. Nishimura, Mihoko Nakamura, M. Higo, 2007, American journal of medical genetics. Part A.

Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.

N. Niikawa, K. Yoshiura, G. Nishimura, 2001, American journal of medical genetics.

Superb Microvascular Imaging ( SMI ) : Clinical Advantages of a Novel US Flow Technique in Pediatric Diagnostic Imaging

K. Fujita, G. Nishimura, T. Kono, 2017 .

Clinical and radiological findings in Pallister-Killian syndrome.

S. Jamuar, G. Nishimura, S. Unger, 2012, European journal of medical genetics.

Radiological changes of frontometaphyseal dysplasia in the neonate

G. Nishimura, T. Aihara, Y. Fukushima, 1995, Pediatric Radiology.

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

S. Kapoor, S. Ikegawa, G. Nishimura, 2016, Case reports in pediatrics.

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia

Y. Tsurusaki, Y. Kuroda, G. Nishimura, 2019, Clinical genetics.

A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3

T. Futami, G. Nishimura, Y. Hasegawa, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Another observation of Langer-type sponastrime dysplasia variant.

Y. Fukushima, G. Nishimura, Y. Fukushima, 1998, American journal of medical genetics.

SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.

Y. Makita, M. Masuno, K. Tachibana, 1996, American journal of medical genetics.

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2

P. Nürnberg, T. Cho, Shahida Moosa, 2017, American journal of medical genetics. Part A.

Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations

S. Momohara, H. Ohashi, S. Ikegawa, 2004, American journal of medical genetics. Part A.

Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

G. Nishimura, Toshiko Mori, S. Hirose, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

A mild variant of Desbuquois dysplasia

K. Ozono, G. Nishimura, H. Hong, 1999, European Journal of Pediatrics.

A case of skeletal dysplasia with advanced carpal ossification and “monkey wrench” appearance of the femora: mild Desbuquois dysplasia?

T. Ogata, G. Nishimura, N. Matsuo, 2006, European Journal of Pediatrics.

A distinct subtype of “metatropic dysplasia variant” characterised by advanced carpal skeletal age and subluxation of the radial heads

K. Ozono, G. Nishimura, N. Aida, 1998, Pediatric Radiology.

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

D. Rimoin, H. Koseki, K. Isono, 2007, Nature Medicine.

Axial spondylometaphyseal dysplasia: Additional reports

Y. Makita, T. Cho, K. Fujieda, 2011, American journal of medical genetics. Part A.

Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report

G. Nishimura, H. Minakami, Kazutoshi Cho, 2009, Prenatal Diagnosis.

Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

S. Ikegawa, G. Nishimura, Y. Fukushima, 1995, American journal of medical genetics.

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia

T. Ogata, K. Nakabayashi, G. Nishimura, 2014, American journal of medical genetics. Part A.

Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature

N. Haga, G. Nishimura, K. Aoki, 1996, Skeletal Radiology.

A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation

M. Uetani, N. Okamoto, G. Nishimura, 2007, Journal of Human Genetics.

Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.

G. Nishimura, O. Kim, T. Horiuchi, 1997, American journal of medical genetics.

Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification.

T. Ogata, G. Nishimura, N. Matsuo, 1990, American journal of medical genetics.

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism

M. Tominaga, G. Nishimura, S. Ninomiya, 2020, The Journal of Physiological Sciences.

MR imaging of perinatal brain damage: comparison of clinical outcome with initial and follow-up MR findings.

G. Nishimura, N. Aida, M. Takeuchi, 1998, AJNR. American journal of neuroradiology.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

Hypoplasia of the transverse sinus in oto-palato-digital syndrome type I.

G. Nishimura, H. Suzumura, K. Kano, 1998, American journal of medical genetics.

Radiographic findings in Shprintzen-Goldberg syndrome

G. Nishimura, T. Nagai, 1996, Pediatric Radiology.

Report of second case and clinical and molecular characterization of Eiken syndrome

G. Mortier, A. Moirangthem, K. Girisha, 2018, Clinical genetics.

Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review

G. Nishimura, D. Ochiai, K. Yakubo, 2013, Congenital anomalies.

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

G. Nishimura, R. Fukuzawa, T. Hasegawa, 2018, Journal of Human Genetics.

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

D. Dias-Santagata, J. Eisfeldt, D. Nilsson, 2023, Frontiers in Genetics.

A young infant with Goldbloom syndrome

G. Nishimura, M. Fujioka, M. Yamato, 1999, Pediatrics International.

A Case Report of Dysosteosclerosis Observed from the Prenatal Period

G. Nishimura, K. Ohyama, K. Sugita, 2010, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

S. Robertson, K. Devriendt, G. Scarano, 2012, Human mutation.

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

Y. Tsurusaki, G. Nishimura, K. Kurosawa, 2020, Human Genome Variation.

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

Daisuke Sato, N. Niikawa, K. Yoshiura, 2009, American journal of medical genetics. Part A.

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population

R. Kosaki, H. Ohashi, S. Ikegawa, 2006, American journal of medical genetics. Part A.

Patterson-Lowry rhizomelic dysplasia: a potentially lethal bone dysplasia?

G. Nishimura, T. Kamoda, R. Nakajima, 2001, Pediatric Radiology.

A recurrent mutation in the 5′‐UTR of IFITM5 causes osteogenesis imperfecta type V

G. Nishimura, Shuhei Sato, T. Hasegawa, 2013, American Journal of Medical Genetics. Part A.

Induction of systemic bone changes by preconditioning total body irradiation for bone marrow transplantation

G. Nishimura, H. Kitoh, Y. Shioda, 2008, Pediatric Radiology.

Normal early development in siblings with novel compound heterozygous variants in ASPM

T. Okuyama, M. Kosuga, T. Kaname, 2019, Human Genome Variation.

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

G. Yamamoto, G. Nishimura, E. Iwarsson, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood

G. Nishimura, K. Iijima, N. Morisada, 2021, Endocrine.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan

G. Nishimura, T. Omori, H. Numabe, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva

E. Zackai, H. Kayserili, N. Haga, 2016, Pediatric Radiology.

Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report

R. Kosaki, G. Nishimura, T. Hasegawa, 2018, Oral Science International.

Severe osteogenesis imperfecta caused by double glycine substitutions near the amino‐terminal triple helical region in COL1A2

G. Nishimura, Y. Hasegawa, T. Hasegawa, 2015, American journal of medical genetics. Part A.

Imaging findings of juvenile idiopathic arthritis and autoinflammatory diseases in children.

M. Jinzaki, H. Sugimoto, G. Nishimura, 2023, Japanese journal of radiology.

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.

M. Masuno, Y. Kuroki, G. Nishimura, 2000, Clinical Dysmorphology.

A. Okamoto, M. Nakajima, S. Ikegawa, 2019, American journal of medical genetics. Part A.

Multiple, juxtasutural, cranial hyperostoses and cardiac tumor: a new hamartomatous syndrome?

G. Nishimura, J. Nishimura, 1997, American journal of medical genetics.

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

G. Mortier, S. Mohan, T. Nakashima, 2016, Journal of Medical Genetics.

Osteosclerotic metaphyseal dysplasia

G. Nishimura, K. Kozłowski, 2005, Pediatric Radiology.

Practical Approach to Radiologic Diagnosis of Bone Dysplasias: Bone Dysplasia Family

G. Nishimura, 1997 .

Broad proximal phalanx, facial anomalies, hallux valgus, and bronchomalacia: additional case.

G. Nishimura, T. Nagai, N. Matsuo, 1994, American journal of medical genetics.

A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

C. Chung, Hae-Ryong Song, T. Cho, 2009, Skeletal Radiology.

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients

Y. Fukushima, T. Shiihara, S. Ikegawa, 2002, American journal of medical genetics. Part A.

Myhre syndrome: Age‐dependent progressive phenotype

T. Morio, G. Nishimura, K. Kashimada, 2017, Pediatrics international : official journal of the Japan Pediatric Society.

Double‐layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation

H. Ohashi, S. Ikegawa, G. Nishimura, 2005, American Journal of Medical Genetics. Part A.

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

O. Mäkitie, A. Nordgren, D. Nilsson, 2015, Clinical Genetics.

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome

S. Ikegawa, R. Pooh, G. Nishimura, 2023, Clinical genetics.

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1

W. Park, T. Cho, A. Superti-Furga, 2010, Journal of Medical Genetics.

Hypomorphic mutations of TRIP11 cause Hypomorphic mutations of TRIP11 cause this you.

G. Pazour, M. Schmidts, A. Bloch-Zupan, 2022 .

Atelosteogenesis Type 3: The First Patient in Japan and a Survivor for more than 1 year

G. Nishimura, T. Furukawa, S. Kuwashima, 1992, Acta paediatrica Japonica : Overseas edition.

A syndactyly type IV locus maps to 7q36

Daisuke Sato, N. Niikawa, K. Yoshiura, 2007, Journal of Human Genetics.

Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects

H. Ohashi, S. Ikegawa, G. Nishimura, 2002, Skeletal Radiology.

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report

Kyoko Takano, H. Kato, G. Nishimura, 2017, Spine.

Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

R. Stevenson, F. McKenzie, A. Nordgren, 2023, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

N. Niikawa, Jooyoung Lee, K. Joo, 2014, Cellular signalling.

Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

A. Mégarbané, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: Further evidence for loss of heterozygosity involving 9p21‐22 in tumor tissue

T. Ogata, T. Hasegawa, G. Nishimura, 2002, Genes, chromosomes & cancer.

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

H. Kayserili, H. Ohashi, S. Ikegawa, 2013, Human mutation.

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants

P. Shannon, D. Chitayat, S. Blaser, 2020, American journal of medical genetics. Part A.

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).

G. Nishimura, T. Nagai, T. Hasegawa, 1994, American journal of medical genetics.

Enchondromatosis revisited: New classification with molecular basis

A. Superti-Furga, G. Nishimura, J. Spranger, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation

T. Ogata, H. Saitsu, G. Nishimura, 2019, Journal of Human Genetics.

Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents

H. Azuma, G. Nishimura, K. Nagaya, 2012, American journal of medical genetics. Part A.

Variability of platyspondylic lethal chondrodysplasia: another case report.

R. Fukuzawa, G. Nishimura, T. Iwasawa, 1998, Clinical dysmorphology.