T. Kosho

发表

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Naomichi Matsumoto, Kenji Kurosawa, Yoshio Makita, 2006, American journal of medical genetics. Part A.

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

J. Inazawa, S. Saitoh, A. Hata, 2016, Journal of Human Genetics.

Efficacy of denosumab therapy for osteoporosis-pseudoglioma syndrome with osteoporosis: a case report

H. Kato, Yukio Nakamura, H. Kawame, 2018, Modern Rheumatology Case Reports.

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

C. Picard, M. Unoki, H. Sasaki, 2013, Journal of Human Genetics.

De novo 5q14.3 translocation 121.5‐kb upstream of MEF2C in a patient with severe intellectual disability and early‐onset epileptic encephalopathy

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

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

T. Ogata, K. Kurosawa, K. Muroya, 2021, Journal of Human Genetics.

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review

Y. Fukushima, Kyoko Takano, Eriko Nishi, 2019, American journal of medical genetics. Part A.

Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His

Y. Fukushima, Y. Matsubara, Y. Aoki, 2011, American Journal of Medical Genetics. Part A.

Renal complications in 6p duplication syndrome: Microarray‐based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)

Y. Fukushima, N. Matsumoto, K. Koike, 2015, American journal of medical genetics. Part A.

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys‐Dietz syndrome

T. Morisaki, H. Morisaki, K. Kosaki, 2015, American journal of medical genetics. Part A.

Posterior spinal fusion for severe kyphoscoliosis in a Loeys-Dietz syndrome patient with a large syringomyelia

S. Ikegami, M. Kubota, T. Kosho, 2020, Journal of Clinical Neuroscience.

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B

Y. Fukushima, T. Morisaki, H. Morisaki, 2010, American journal of medical genetics. Part A.

Intracranial and extracranial multiple arterial dissecting aneurysms in rheumatoid arthritis: A case report

A. Mukasa, T. Kawano, Y. Ohmori, 2020, Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences.

Bone Histomorphometry in Miscellaneous Metabolic Diseases: Hepatic C-Associated Osteosclerosis, IgG4-Related Disease, and Ehlers–Danlos Syndrome

Hideaki Takahashi, N. Yamamoto, T. Kosho, 2021, Osteoporotic Fracture and Systemic Skeletal Disorders.

Genetic association analysis of 269 rare diseases reveals novel aetiologies

I. Yamanaka, S. Riazuddin, S. Mansour, 2022, medRxiv.

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review

Kyoko Takano, Y. Nakazawa, Y. Inaba, 2017, Brain and Development.

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Y. Fukushima, Kyoko Takano, K. Wakui, 2017, European journal of medical genetics.

Mining the 99 Lives Cat Genome Sequencing Consortium database implicates genes and variants for the Ticked locus in domestic cats ( Felis catus )

Bianca, Brockman, A. Boyko, 2021 .

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

K. Wakui, K. Sugiyama, H. Moteki, 2019, Genes.

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36

Y. Fukushima, N. Matsumoto, K. Koike, 2008, American journal of medical genetics. Part A.

A novel de novo point mutation of the OCT‐binding site in the IGF2/H19‐imprinting control region in a Beckwith–Wiedemann syndrome patient

T. Ogata, H. Soejima, H. Koseki, 2014, Clinical genetics.

Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.

N. Matsumoto, N. Miyake, T. Kosho, 2021, Advances in experimental medicine and biology.

Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.

N. Matsumoto, N. Miyake, T. Kosho, 2014, Advances in experimental medicine and biology.

Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

N. Okamoto, T. Kosho, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

The 2017 international classification of the Ehlers–Danlos syndromes

J. Belmont, P. Byers, R. Grahame, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Systematic investigation of the skin in Chst14-/- mice: a model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14).

J. Nakayama, Takafumi Watanabe, Yuki Takahashi, 2020, Glycobiology.

Vascular abnormalities in the placenta of Chst14−/− fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency

S. Takeda, J. Nakayama, Kiyoshi Matsumoto, 2018, Glycobiology.

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders

T. Kosho, Shuji Mizumoto, S. Yamada, 2017, Pharmaceuticals.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

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.

Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome.

Kyoko Takano, S. Ikegami, Y. Inaba, 2019, Spine.

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

Y. Fukushima, Kyoko Takano, Kunihiro Yoshida, 2017, Human Genome Variation.

Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation

Y. Fukushima, Kunihiro Yoshida, P. Knappskog, 2010, American Journal of Medical Genetics. Part A.

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter

Y. Fukushima, Y. Nakazawa, K. Wakui, 2018, Human Genome Variation.

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Y. Fukushima, N. Niikawa, N. Matsumoto, 2013, American journal of medical genetics. Part A.

A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia

Katsuya Nakamura, Y. Sekijima, T. Yoshinaga, 2019, Journal of the Neurological Sciences.

COFFIN–SIRIS SYNDROME

N. Miyake, T. Kosho, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

I. Nonaka, I. Nishino, T. Furukawa, 2012, American journal of medical genetics. Part A.

Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis—Case Series

H. Kato, Yukio Nakamura, T. Hasegawa, 2018, Journal of clinical medicine.

Efficacy of Denosumab for Osteoporosis in Three Female Patients with Osteogenesis Imperfecta.

H. Kato, M. Kamimura, Yukio Nakamura, 2017, The Tohoku journal of experimental medicine.

Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome.

Tomohiko Nakamura, Y. Inaba, T. Kosho, 2016, Circulation journal : official journal of the Japanese Circulation Society.

Myelodysplastic syndrome in a child with 15q24 deletion syndrome

Y. Fukushima, S. Kojima, K. Wakui, 2012, American journal of medical genetics. Part A.

Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation

Guillermo Posadas-Herrera, Y. Inoue, Takayoshi Inoue, 2021, Frontiers in Cell and Developmental Biology.

Silver–Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

T. Ogata, T. Kikuchi, K. Nagasaki, 2014, 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.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

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.

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.

Y. Fukushima, G. Rappold, T. Ogata, 2000, American journal of medical genetics.

Efficacy of Denosumab for Glucocorticoid-Induced Osteoporosis in an Adolescent Patient with Duchenne Muscular Dystrophy: A Case Report

A. Nakamura, H. Kato, M. Kamimura, 2018, JBJS case connector.

Clinical and genetic features of 20 Japanese patients with vascular‐type Ehlers–Danlos syndrome

M. Wataya-Kaneda, T. Tanaka, K. Makino, 2010, The British journal of dermatology.

Brothers with genu recurvatum.

K. Aoki, H. Horiuchi, H. Kato, 2007, The Knee.

Short communication Brothers with genu recurvatum

K. Aoki, H. Horiuchi, H. Kato, 2007 .

Aggressive change of a carotid-cavernous fistula in a patient with Ehlers–Danlos syndrome type IV

A. Kojima, T. Kosho, A. Hatamochi, 2015, Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences.

Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications

T. Taketani, Yukio Nakamura, H. Kawame, 2022, American journal of medical genetics. Part A.

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Kyoko Takano, M. Sumi, N. Koitabashi, 2022, American journal of medical genetics. Part A.

Spinal manifestations in 12 patients with musculocontractural Ehlers‐Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS‐CHST14)

H. Kato, J. Nakayama, Hideaki Takahashi, 2018, American journal of medical genetics. Part A.

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.

N. Miyake, N. Okamoto, T. Kosho, 2017, Clinical biochemistry.

CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome

T. Kosho, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.

M. Akiyama, N. Miyake, K. Toriyama, 2016, Acta dermato-venereologica.

Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos Syndrome

T. Kosho, 2013 .

A response to: Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient Adducted Thumb–Clubfoot Syndrome”. Which name is appropriate, “Adducted Thumb–Clubfoot Syndrome” or “Ehlers–Danlos syndrome”?

Y. Fukushima, N. Matsumoto, N. Miyake, 2011, Human mutation.

Discovery and Delineation of a New Type of Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase Deficiency

T. Kosho, 2011 .

[Ehlers-Danlos syndrome with a frequent intestinal perforation].

Y. Aoki, T. Yamagishi, T. Kosho, 2009, Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine.

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

Y. Fukushima, T. Shimada, M. Fujimoto, 2007, Circulation journal : official journal of the Japanese Circulation Society.

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.

Atypical Sotos syndrome caused by a novel splice site variant

S. Mizuno, T. Tsuji, T. Kosho, 2022, Human Genome Variation.

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

K. Kurosawa, H. Yoshihashi, Junko Yotsumoto, 2020, Journal of Human Genetics.

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

M. Suyama, O. Ohara, Y. Kuroki, 2022, bioRxiv.

Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence

T. Kosho, K. Igawa, Tomomi Yamaguchi, 2022, Frontiers in Genetics.

Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization

Y. Fukushima, N. Niikawa, N. Matsumoto, 2007 .

Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis

Y. Fukushima, Kyoko Takano, Y. Nakazawa, 2021, American journal of medical genetics. Part A.

The Ehlers–Danlos syndromes

P. Byers, M. Castori, C. Francomano, 2020, Nature Reviews Disease Primers.

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.

Hypohidrotic ectodermal dysplasia: A report of two cases

Y. Kiniwa, R. Okuyama, H. Nakano, 2017, The Journal of dermatology.

Care of children with trisomy 18 in Japan

T. Kosho, 2008, American journal of medical genetics. Part A.

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Y. Fukushima, Tomohiko Nakamura, M. Tamura, 2006, American journal of medical genetics. Part A.

The Ehlers–Danlos syndromes, rare types

N. Voermans, A. Brady, J. Zschocke, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

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.

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines

Y. Fukushima, Y. Matsubara, T. Niihori, 2015, American journal of medical genetics. Part A.

Leg ulcers associated with positive lupus anticoagulant in two cases of Klinefelter's syndrome.

H. Koga, Y. Goto, H. Murata, 2011, Acta dermato-venereologica.

A case of neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous haemodiafiltration

Tomohiko Nakamura, M. Tamura, T. Kosho, 2000, European Journal of Pediatrics.

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

R. Kosaki, K. Kosaki, C. Torii, 2007, Genetic testing.

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

T. Ogata, K. Ito, H. Ohashi, 2000, Kidney international.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

N. Niikawa, M. Tekin, K. Ihara, 2013, American journal of medical genetics. Part A.

Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

Y. Fukushima, H. Ohashi, N. Okamoto, 2014, American journal of medical genetics. Part A.

Shimizu et al. Microarray and FISH-based Genotype-Phenotype Analysis of 22 Japanese Patients with Wolf-Hirschhorn Syndrome

Y. Fukushima, H. Ohashi, N. Okamoto, 2014 .

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Y. Fukushima, J. Inazawa, S. Saitoh, 2011, Journal of Human Genetics.

New from NPG

Tadashi Kaname, Kenji Naritomi, Hiroshi Doi, 2012, Nature Medicine.

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.

Y. Fukushima, T. Ogata, K. Wakui, 2000, The Journal of clinical endocrinology and metabolism.

Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

J. Carey, N. Miyake, T. Kosho, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

D. Baker, A. Brady, Diana S. Johnson, 2020, American journal of medical genetics. Part A.

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature

Y. Fukushima, R. Kosaki, Y. Aoki, 2014, American journal of medical genetics. Part A.

Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report

H. Kato, M. Kamimura, Yukio Nakamura, 2018, Therapeutics and clinical risk management.

Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group

T. Kosho, Y. Tanikawa, H. Kuniba, 2013, American journal of medical genetics. Part A.

Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature

Y. Fukushima, Y. Igawa, K. Wakui, 2010, American journal of medical genetics. Part A.

Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations

N. Brown, N. Niikawa, N. Matsumoto, 2016, Clinical 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.

Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

Y. Fukushima, N. Matsumoto, K. Koike, 2012, American journal of medical genetics. Part A.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Ellen F. Macnamara, Ryan K. Dale, Pedro P. Rocha, 2021, Science Advances.

Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly

Bianca, A. Boyko, G. Barsh, 2019 .

Bronchopulmonary foregut malformation diagnosed by three-dimensional CT

T. Tsuchiya, T. Kosho, E. Ukiyama, 2003, Pediatric Radiology.

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Y. Fukushima, T. Morio, H. Kurahashi, 2022, Journal of Human Genetics.

Frequency and clinical features of hearing loss caused by STRC deletions

Y. Fukushima, H. Sakaguchi, K. Wakui, 2019, Scientific Reports.

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome

N. Miyake, Takafumi Watanabe, T. Kosho, 2019, Genes.

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment

Tomohiko Nakamura, Eriko Nishi, T. Kosho, 2018, American journal of medical genetics. Part A.

Perspectives on the care and advances in the management of children with trisomy 13 and 18

J. Carey, T. Kosho, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?

J. Carey, T. Kosho, 2016, American journal of medical genetics. Part A.

Surgical intervention for esophageal atresia in patients with trisomy 18

Y. Fukushima, Tomohiko Nakamura, Eriko Nishi, 2014, American journal of medical genetics. Part A.

[A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease].

H. Kanegane, T. Miyawaki, H. Ohashi, 2003, Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology.

Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7

N. Matsumoto, T. Uchiyama, N. Miyake, 2021, American journal of medical genetics. Part A.

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome

F. Ishida, T. Kosho, H. Nakazawa, 2021, International Journal of Hematology.

Growing Evidence on the Management of Children with Trisomy 18

T. Kosho, 2015 .

NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.

Wenyi Wei, K. Nakayama, K. Nakayama, 2017, Molecular cell.

Frequency clinical features of hearing loss caused by

Y. Fukushima, H. Sakaguchi, K. Wakui, 2020 .

Female carriers of Xp22.3 deletion including MRX locus.

T. Ogata, K. Muroya, M. Matsuo, 1999, American journal of medical genetics.

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of Human Genetics.

Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits

A. Boyko, G. Barsh, N. Pedersen, 2021, Scientific Reports.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Exome sequencing in a family with an X‐linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

Y. Fukushima, N. Matsumoto, N. Miyake, 2013, Clinical genetics.

Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1

Katsuya Nakamura, Y. Sekijima, T. Yoshinaga, 2022, Neurology: Genetics.

Regulation of human development by ubiquitin chain editing of chromatin remodelers

Ellen F. Macnamara, Ryan K. Dale, Pedro P. Rocha, 2020, bioRxiv.

Early-onset inflammatory bowel disease caused by mutations in the X-linked gene IL2RG.

Y. Nakazawa, K. Agematsu, T. Uehara, 2020, Journal of investigational allergology & clinical immunology.

Posterior spinal fusion for severe spinal deformities in musculocontractural Ehlers-Danlos syndrome: Detailed observation of a novel Case and review of two reported cases.

S. Ikegami, T. Kosho, J. Takahashi, 2020, World neurosurgery.

Molecular Basis for Hypochondroplasia in Japan

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

Availability of DMD mRNA Transcripts Analysis in a patient with Dystrophinopathy having a Nonsense Mutation

A. Nakamura, Y. Hayashi, I. Nishino, 2013 .

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

I. Imoto, F. Nomura, A. Hirasawa, 2020, Journal of Human Genetics.

"Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes.

T. Kosho, Y. Fukushima, H. Ohashi, 2005, Genetic Counseling.

Detailed clinical and radiological features of the first patient with Elsahy–Waters syndrome in East Asia

S. Yuzuriha, T. Kosho, Yoshinori Tsukahara, 2021, American journal of medical genetics. Part A.

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

T. Nakahata, Keiko Kobayashi, Shigenori Yamamoto, 2007, Journal of Human Genetics.

Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature

S. Matsubayashi, T. Kosho, Y. Tanigawa, 2017, Internal medicine.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

B. Gelb, I. Yamanaka, S. Riazuddin, 2023, Nature Medicine.

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment

Y. Fukushima, N. Niikawa, N. Matsumoto, 2008, Clinical dysmorphology.

Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution‐based detailed clinical observation

Tomohiko Nakamura, Eriko Nishi, M. Noguchi, 2018, American journal of medical genetics. Part A.

Extremely young case of small bowel intussusception due to Peutz–Jeghers syndrome with nonsense mutation of STK11

K. Sugano, Mai Kusakari, Y. Nakayama, 2019, Clinical Journal of Gastroenterology.

Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports

Midori Sato, T. Koizumi, M. Kitazawa, 2023, Discover Oncology.

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

Y. Fukushima, B. Emanuel, H. Kurahashi, 2014, Molecular Cytogenetics.

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.

The detailed obstetric course of the first Japanese patient with AEBP1‐related Ehlers–Danlos syndrome (classical‐like EDS, type 2)

H. Murota, T. Kosho, Y. Koike, 2023, The journal of obstetrics and gynaecology research.

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials

T. Akiyama, Kyoko Takano, T. Kosho, 2020, Molecular genetics and metabolism reports.

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan

Y. Fukushima, Kunihiro Yoshida, S. Ikeda, 2013, Journal of Human Genetics.

MLL2 and KDM6A Mutations in Patients With

N. Niikawa, M. Tekin, K. Ihara, 2013 .

A case of Kindler syndrome with severe esophageal stenosis

Y. Kiniwa, C. Has, R. Okuyama, 2015, International journal of dermatology.

A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.

K. Ihara, T. Maeda, T. Kosho, 2019, Clinical dysmorphology.

Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers–Danlos Syndrome

M. Hayashi, T. Kosho, J. Takahashi, 2022, Genes.

Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells

T. Era, T. Kosho, Fengming Yue, 2023, Genes.

Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient

M. Taki, Takafumi Watanabe, T. Kosho, 2022, Human mutation.

Refined mapping of the gene for otopalatodigital syndrome type I

T. Ogata, H. Ohashi, K. Muroya, 2002, Journal of medical genetics.

Mouse Models of Musculocontractural Ehlers-Danlos Syndrome

T. Kosho, T. Yoshizawa, 2023, Genes.

[Exstrophy of cloaca sequence].

T. Kosho, 2001, Ryoikibetsu shokogun shirizu.

Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.

N. Miyake, J. Minaguchi, J. Nakayama, 2019, Biochimica et biophysica acta. General subjects.

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos Syndromes.

G. Larson, S. Fournel‐Gigleux, F. Malfait, 2022, American journal of physiology. Cell physiology.

Familial Aortic Dissection in a Young Adult Caused by MYH11 Gene Mutation.

Manabu Yamasaki, Kohei Abe, T. Kosho, 2019, The Annals of thoracic surgery.

Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation

H. Kato, Yukio Nakamura, S. Uchiyama, 2017, Journal of surgical case reports.

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk.

Y. Fukushima, T. Ohashi, Y. Sekijima, 2010, Clinical therapeutics.

The first experience of denosumab therapy on patients with Ehlers–Danlos syndrome and osteoporosis: detailed observation of two patients

Yukio Nakamura, T. Kosho, J. Takahashi, 2020, Modern rheumatology case reports.

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

M. Akiyama, R. Okuyama, H. Uhara, 2013, Journal of dermatological science.

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Y. Fukushima, N. Matsumoto, H. Ohashi, 2011, American journal of medical genetics. Part A.

Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature

S. Motegi, T. Kosho, A. Uchiyama, 2023, Frontiers in Genetics.

A Case with XXXX Syndrome Who Was Incidentally Diagnosed during Examination for Suspected Post-Human Papillomavirus Vaccination Syndrome

S. Ikeda, H. Kato, Y. Sekijima, 2019, Case Reports in Clinical Medicine.

Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back

N. Matsumoto, N. Miyake, T. Kosho, 2016, The Journal of dermatology.

Efficacy of denosumab therapy for a 21-year-old woman with Prader-Willi syndrome, osteoporosis and history of fractures: a case report

H. Kato, Yukio Nakamura, T. Kosho, 2019, Therapeutics and clinical risk management.

Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type

T. Kosho, J. Takahashi, M. Uehara, 2023, Genes.

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter

Y. Fukushima, Y. Nakazawa, K. Wakui, 2018, Human Genome Variation.

Backcrossing to an appropriate genetic background improves the birth rate of carbohydrate sulfotransferase 14 gene-deleted mice

Kiyoshi Matsumoto, Yuki Takahashi, Hitoki Yamanaka, 2020, Experimental animals.

Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome

T. Kosho, Y. Izu, Tomomi Yamaguchi, 2023, American journal of medical genetics. Part A.

Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers–Danlos Syndrome

Takafumi Watanabe, T. Kosho, S. Miyata, 2023, Genes.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

O. Migita, C. Tifft, W. Gahl, 2021, Journal of Medical Genetics.

Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)

S. Iwasaki, H. Moteki, S. Nishio, 2023, Genes.

Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)

N. Matsumoto, T. Kamei, N. Miyake, 2023, Genes.

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency

N. Matsumoto, N. Miyake, C. Lautrup, 2020, Molecular genetics & genomic medicine.

Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.

N. Koitabashi, M. Kurabayashi, D. Fukui, 2018, International heart journal.

A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing

Guillermo Posadas-Herrera, Y. Inoue, Takayoshi Inoue, 2021, Disease models & mechanisms.

COFFIN–SIRIS SYNDROME

N. Miyake, T. Kosho, 2021 .

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

T. Sairenchi, S. Yoshihara, G. Kobashi, 2023, Frontiers in genetics.

A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant

Y. Kawabata, T. Inai, Shogo Imamura, 2023, Respiratory medicine case reports.

Atypical Sotos syndrome caused by a novel splice site variant

S. Mizuno, T. Tsuji, T. Kosho, 2022, Human Genome Variation.

Exome sequencing‐based identification of mutations in non‐syndromic genes among individuals with apparently syndromic features

K. Shirahige, Eriko Nishi, K. Masuda, 2016, American journal of medical genetics. Part A.

Elevation of neuron specific enolase and brain iron deposition on susceptibility‐weighted imaging as diagnostic clues for beta‐propeller protein‐associated neurodegeneration in early childhood: Additional case report and review of the literature

Y. Fukushima, Kyoko Takano, N. Aida, 2016, American journal of medical genetics. Part A.

Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease

Katsuya Nakamura, Y. Sekijima, K. Kuwahara, 2023, Molecular genetics and metabolism reports.

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.

Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

N. Koitabashi, Ken-ichi Matsumoto, T. Kosho, 2023, Frontiers in genetics.

Carbohydrate ( N -Acetylgalactosamine 4- O ) Sulfotransferase 14 (CHST14)

T. Kosho, Shuji Mizumoto, K. Sugahara, 2014 .

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B

Y. Fukushima, T. Morisaki, H. Morisaki, 2010, American Journal of Medical Genetics. Part A.

Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report

H. Kato, M. Kamimura, Yukio Nakamura, 2018 .

Myelodysplastic syndrome in a child with 15q24 deletion syndrome

Y. Fukushima, S. Kojima, K. Wakui, 2012, American journal of medical genetics. Part A.

Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: Report of a case

Yoshifumi Takahashi, M. Koike, T. Mukai, 2011, Surgery Today.

COFFIN–SIRIS SYNDROME

T. Kosho, Noriko Miyake, Noriko Miyake, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.

Katsuya Nakamura, T. Yoshinaga, T. Kosho, 2024, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder

Y. Fukushima, K. Wakui, T. Kosho, 2021, Brain and Development.

JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease.

S. Nomura, S. Ohno, E. Yamamoto, 2024, Circulation journal : official journal of the Japanese Circulation Society.

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.