M. Takagi

发表

An association with hypopituitarism and 9q subtelomere deletion syndrome

H. Yoshihashi, T. Hasegawa, S. Higuchi, 2018, Clinical Case Reports.

A Novel Mutation in SOX2 Causes Hypogonadotropic Hypogonadism with Mild Ocular Malformation

Y. Hasegawa, K. Muroya, T. Hasegawa, 2014, Hormone Research in Paediatrics.

Hypertension is a characteristic complication of X-linked hypophosphatemia.

Y. Hasegawa, M. Takagi, Ryojun Takeda, 2017, Endocrine journal.

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.

Discovery of an unrecorded population of Yamato salamander ( Hynobius vandenburghi ) by GIS and eDNA analysis

S. Okada, T. Minamoto, T. Mukai, 2019, Environmental DNA.

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

M. Itakura, H. Inoue, K. Muroya, 2013, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

R. Fukuzawa, T. Hasegawa, M. Takagi, 2017, 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.

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.

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.

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.

T. Hasegawa, Yoko Tanaka, M. Takagi, 2013, European journal of medical genetics.

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.

R. Fukuzawa, T. Hasegawa, H. Kamasaki, 2017, Endocrine journal.

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.

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.

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature

H. Jüppner, K. Ozono, T. Kubota, 2014, European Journal of Pediatrics.

Genetic defects in pediatric-onset adrenal insufficiency in Japan.

T. Hasegawa, M. Takagi, Satoshi Narumi, 2017, European journal of endocrinology.

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Y. Hasegawa, K. Muroya, T. Hasegawa, 2014, European journal of endocrinology.

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.

A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery

Y. Hasegawa, M. Takagi, K. Miyai, 2016, Hormone Research in Paediatrics.

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

H. Arakawa, T. Hasegawa, M. Takagi, 2016, Endocrine journal.

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.

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.

Comparison of susceptibility to a toxic alien toad ( Bufo japonicus formosus ) between predators in its native and invaded ranges

Makoto Kobayashi, M. Takagi, Koki Ikeya, 2020, Freshwater Biology.

A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3

K. Kosaki, C. Torii, T. Hasegawa, 2014, Pituitary.

A family of pseudohypoparathyroidism type Ia with an 850‐kb submicroscopic deletion encompassing the whole GNAS locus

T. Hasegawa, K. Nagasaki, M. Takagi, 2012, American journal of medical genetics. Part A.

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.

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.

Fertility preservation in a family with a novel NR5A1 mutation.

Y. Hasegawa, M. Takagi, M. Igarashi, 2015, Endocrine journal.

Criteria for radiologic diagnosis of hypochondroplasia in neonates

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

Use of liothyronine without levothyroxine in the treatment of mild consumptive hypothyroidism caused by hepatic hemangiomas.

Y. Hasegawa, S. Higuchi, M. Takagi, 2017, Endocrine journal.

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

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

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome

H. Yoshihashi, Y. Hasegawa, T. Hasegawa, 2015, American journal of medical genetics. Part A.

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.

Molecular Basis for Hypochondroplasia in Japan

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

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.

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

Y. Hasegawa, K. Muroya, T. Hasegawa, 2012, PloS one.

Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome

R. Fukuzawa, T. Hasegawa, M. Takagi, 2016, Human Genome Variation.

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 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.

A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity

Y. Hasegawa, T. Hasegawa, M. Takagi, 2016, Clinical endocrinology.

ESPE Position Statement for Paediatric Endocrinology Subspecialty

L. Federici, J. Charrow, T. Battelino, 2016, Hormone Research in Paediatrics.

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

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

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.

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.

A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

Toru Watanabe, T. Hasegawa, Takashi R. Sato, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide

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

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Y. Hasegawa, K. Muroya, T. Hasegawa, 2014, European journal of endocrinology.

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo‐epiphyseal dysplasia mimicking autosomal dominant brachyolmia

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