Gen Nishimura

Gen Nishimura

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Gen Nishimura

Publications by authors named "Gen Nishimura"

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

J Hum Genet 2019 Oct 6;64(10):1041-1044. Epub 2019 Aug 6.

Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1038/s10038-019-0650-0DOI Listing
October 2019

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.

Pediatr Int 2019 Aug 27;61(8):748-753. Epub 2019 Aug 27.

Genetic Counsellor Course, Kyoto University School of Public Health, Kyoto, Japan.

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http://dx.doi.org/10.1111/ped.13927DOI Listing
August 2019

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

BMC Med Genet 2019 Jul 16;20(1):126. Epub 2019 Jul 16.

Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo, 183-8561, Japan.

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http://dx.doi.org/10.1186/s12881-019-0858-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636042PMC
July 2019

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

Clin Genet 2019 Jun 11;95(6):713-717. Epub 2019 Apr 11.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cge.13530DOI Listing
June 2019

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

J Bone Miner Res 2019 Jun 4. Epub 2019 Jun 4.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1002/jbmr.3805DOI Listing
June 2019

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

J Hum Genet 2019 May 22;64(5):467-471. Epub 2019 Feb 22.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1038/s10038-019-0581-9DOI Listing
May 2019

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

Eur J Med Genet 2019 Jan 25;62(1):21-26. Epub 2018 Apr 25.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2018.04.013DOI Listing
January 2019

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

J Hum Genet 2018 Dec 18;63(12):1277-1281. Epub 2018 Sep 18.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1038/s10038-018-0513-0DOI Listing
December 2018

Familial campomelic dysplasia due to maternal germinal mosaicism.

Congenit Anom (Kyoto) 2018 Nov 2;58(6):194-197. Epub 2018 Apr 2.

Department of Obstetrics and Gynecology, Gunma University, Graduate School of Medicine, Gunma, Japan.

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http://dx.doi.org/10.1111/cga.12279DOI Listing
November 2018

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

Hum Mutat 2018 10 22;39(10):1456-1467. Epub 2018 Aug 22.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.23605DOI Listing
October 2018

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

J Hum Genet 2018 Sep 8;63(9):1003-1007. Epub 2018 Jun 8.

Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1038/s10038-018-0473-4DOI Listing
September 2018

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

Am J Med Genet A 2018 09 31;176(9):2009-2016. Epub 2018 Jul 31.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.40427DOI Listing
September 2018

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

J Pediatr Genet 2018 Sep 9;7(3):134-137. Epub 2018 Mar 9.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1055/s-0038-1636995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087473PMC
September 2018

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

Clin Pediatr Endocrinol 2018 31;27(3):193-196. Epub 2018 Jul 31.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1297/cpe.27.193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073055PMC
July 2018

Dysosteosclerosis is also caused by TNFRSF11A mutation.

J Hum Genet 2018 Jun 22;63(6):769-774. Epub 2018 Mar 22.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.

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http://dx.doi.org/10.1038/s10038-018-0447-6DOI Listing
June 2018

Two novel mutations of in Japanese boys with pseudoachondroplasia.

Hum Genome Var 2018 8;5:12. Epub 2018 Jun 8.

1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1038/s41439-018-0012-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993830PMC
June 2018

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

Congenit Anom (Kyoto) 2018 May 29;58(3):102-104. Epub 2017 Aug 29.

Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.

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http://dx.doi.org/10.1111/cga.12240DOI Listing
May 2018

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

Pediatr Int 2018 May 26;60(5):485-486. Epub 2018 Apr 26.

Department of Pediatrics, School of Medicine, Keio University, Tokyo, Japan.

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http://dx.doi.org/10.1111/ped.13535DOI Listing
May 2018

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

Am J Med Genet A 2018 Mar 31;176(3):739-742. Epub 2018 Jan 31.

Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38623DOI Listing
March 2018

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

Eur J Med Genet 2017 Dec 12;60(12):635-638. Epub 2017 Aug 12.

Department of Medical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2017.08.002DOI Listing
December 2017

Myhre syndrome: Age-dependent progressive phenotype.

Pediatr Int 2017 Nov;59(11):1205-1206

Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Ibaraki, Japan.

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http://dx.doi.org/10.1111/ped.13413DOI Listing
November 2017

Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.

Am J Med Genet A 2017 Oct 25;173(10):2834-2837. Epub 2017 Jul 25.

Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38368DOI Listing
October 2017

Novel and recurrent and mutations in the Marshall-Stickler syndrome spectrum.

Hum Genome Var 2017 5;4:17040. Epub 2017 Oct 5.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2017.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628180PMC
October 2017

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

J Pediatr Genet 2017 Sep 7;6(3):177-180. Epub 2017 Mar 7.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1055/s-0037-1599201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548527PMC
September 2017

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

J Hum Genet 2017 Aug 23;62(8):797-801. Epub 2017 Mar 23.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2017.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416PMC
August 2017

Familial unilateral carpal bone dysplasia in mother and daughter.

Clin Dysmorphol 2017 Jul;26(3):167-169

Departments of aPediatrics and Child HealthbOrthopedic SurgerycCenter for Institutional Research and Medical Education, Nihon University School of MedicinedDepartment of Radiology, National Center for Child Health and DevelopmenteDepartment of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1097/MCD.0000000000000166DOI Listing
July 2017

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.

Front Endocrinol (Lausanne) 2017 10;8:157. Epub 2017 Jul 10.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.

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http://dx.doi.org/10.3389/fendo.2017.00157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502255PMC
July 2017

Ultra-Low-Dose Fetal CT With Model-Based Iterative Reconstruction: A Prospective Pilot Study.

AJR Am J Roentgenol 2017 Jun 2;208(6):1365-1372. Epub 2017 May 2.

1 Department of Radiology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535 Japan.

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http://dx.doi.org/10.2214/AJR.16.17593DOI Listing
June 2017

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

Prenat Diagn 2017 May 17;37(5):491-496. Epub 2017 Apr 17.

Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1002/pd.5040DOI Listing
May 2017

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

J Hum Genet 2017 Apr 26;62(4):503-506. Epub 2017 Jan 26.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.157DOI Listing
April 2017

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

Am J Med Genet A 2017 Apr 12;173(4):1071-1076. Epub 2017 Feb 12.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38099DOI Listing
April 2017

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

AJR Am J Roentgenol 2017 Apr;208(4):862-867

6 Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.2214/AJR.16.17316DOI Listing
April 2017

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

J Hum Genet 2017 Mar 10;62(3):437-441. Epub 2016 Nov 10.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.136DOI Listing
March 2017

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

J Hum Genet 2017 Mar 24;62(3):447-451. Epub 2016 Nov 24.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.143DOI Listing
March 2017

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Am J Med Genet A 2017 Mar 27;173(3):588-595. Epub 2017 Jan 27.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38064DOI Listing
March 2017

A novel mutation in the C-propeptide of causes atypical spondyloepiphyseal dysplasia congenita.

Hum Genome Var 2017 2;4:17003. Epub 2017 Mar 2.

Department of Pediatrics, Keio University School of Medicine , Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2017.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5332300PMC
March 2017

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

Am J Med Genet A 2017 Jan 28;173(1):157-162. Epub 2016 Sep 28.

Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37992DOI Listing
January 2017

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.

Case Rep Pediatr 2016 28;2016:3198597. Epub 2016 Nov 28.

Department of Paediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.

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http://dx.doi.org/10.1155/2016/3198597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149639PMC
November 2016

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

Pediatr Radiol 2016 Oct 4;46(11):1568-72. Epub 2016 Aug 4.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, Aichi, 466-8550, Japan.

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http://dx.doi.org/10.1007/s00247-016-3662-3DOI Listing
October 2016

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

Am J Med Genet A 2016 09 29;170(9):2436-9. Epub 2016 Jun 29.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37823DOI Listing
September 2016

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

Am J Med Genet A 2016 09 30;170(9):2483-5. Epub 2016 Jun 30.

Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095869PMC
September 2016

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

Am J Med Genet A 2016 09 4;170(9):2310-21. Epub 2016 Jul 4.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37831DOI Listing
September 2016

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Am J Med Genet A 2016 09 6;170(9):2462-5. Epub 2016 Jul 6.

Faculté de Médecine et de Pharmacie, Centre de Génomique Humaine, Université Mohammed V. Souissi, Rabat, Morocco.

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http://dx.doi.org/10.1002/ajmg.a.37839DOI Listing
September 2016

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

J Med Genet 2016 08 7;53(8):568-74. Epub 2016 Apr 7.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2016-103756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769692PMC
August 2016

Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.

Am J Med Genet A 2016 08 5;170(8):2212-4. Epub 2016 Jun 5.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37744DOI Listing
August 2016

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

Clin Pediatr Endocrinol 2016 Jul 20;25(3):103-6. Epub 2016 Jul 20.

Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1297/cpe.25.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965510PMC
July 2016

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

Clin Pediatr Endocrinol 2016 Jul 20;25(3):107-10. Epub 2016 Jul 20.

Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1297/cpe.25.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965511PMC
July 2016

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

Hum Genome Var 2016 19;3:16007. Epub 2016 May 19.

Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan.

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http://dx.doi.org/10.1038/hgv.2016.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871930PMC
June 2016

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Am J Med Genet A 2016 Apr 20;170A(4):1088-91. Epub 2016 Jan 20.

Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37516DOI Listing
April 2016

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

Pediatr Radiol 2016 Apr 11;46(4):513-8. Epub 2016 Feb 11.

Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chu-Ou-Ku, Niigata, 951-8510, Japan.

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http://dx.doi.org/10.1007/s00247-015-3518-2DOI Listing
April 2016

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

Am J Med Genet A 2016 Mar 19;170(3):795-8. Epub 2015 Nov 19.

Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37481DOI Listing
March 2016

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Am J Med Genet A 2016 Jan 30;170A(1):266-9. Epub 2015 Sep 30.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.37387DOI Listing
January 2016

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

Orphanet J Rare Dis 2016 Jan 4;11. Epub 2016 Jan 4.

Department of Paediatrics and Department of Clinical and Experimental Medicine, Linköping University, Norrköping, Sweden.

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http://dx.doi.org/10.1186/s13023-015-0380-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700746PMC
January 2016

Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.

Am J Med Genet A 2015 Dec 3;167A(12):3226-8. Epub 2015 Sep 3.

Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37290DOI Listing
December 2015

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.

Am J Med Genet A 2015 Nov 30;167A(11):2851-4. Epub 2015 Jun 30.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37231DOI Listing
November 2015

Progressive hip joint subluxation in Saul-Wilson syndrome.

Am J Med Genet A 2015 Nov 4;167A(11):2834-8. Epub 2015 Aug 4.

Departments of Advanced Genomic and Laboratory Medicine Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37278DOI Listing
November 2015

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

Am J Med Genet A 2015 Oct 8;167A(10):2430-4. Epub 2015 Jun 8.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37193DOI Listing
October 2015

Craniovertebral junction stenosis in Lenz-Majewski syndrome.

Pediatr Radiol 2015 Sep 17;45(10):1567-70. Epub 2015 Mar 17.

Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, 10-1, Okura 2-chome, Setagaya-ku, Tokyo, 157-8535, Japan,

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http://dx.doi.org/10.1007/s00247-015-3329-5DOI Listing
September 2015

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

Pediatr Radiol 2015 Jul 3;45(8):1239-43. Epub 2015 Apr 3.

Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchuu-shi, Tokyo, 183-8561, Japan,

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http://dx.doi.org/10.1007/s00247-015-3292-1DOI Listing
July 2015

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

Am J Med Genet A 2015 Jul 9;167(7):1627-31. Epub 2015 Apr 9.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37051DOI Listing
July 2015

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

J Med Genet 2015 Jul 1;52(7):476-83. Epub 2015 Jun 1.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103108DOI Listing
July 2015

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

Clin Pediatr Endocrinol 2015 Jul 18;24(3):139-41. Epub 2015 Jul 18.

Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan ; Department of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1297/cpe.24.139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639534PMC
July 2015

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

Pediatr Int 2015 Jun;57(3):507-8

Institute of Rheumatology, Tokyo Women's Medical University.

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June 2015

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

Hum Mol Genet 2015 Jan 3;24(2):299-313. Epub 2014 Sep 3.

Cell Induction and Regulation Field, Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Japan Japan Science and Technology Agency, CREST, Tokyo, Japan

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January 2015

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Am J Med Genet A 2014 Oct 10;164A(10):2529-34. Epub 2014 Jul 10.

Department of Pediatrics, School of Medicine, Keio University, Tokyo, Japan.

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October 2014

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

Am J Med Genet A 2014 Sep 16;164A(9):2398-402. Epub 2014 Jun 16.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36648DOI Listing
September 2014

Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias.

Pediatr Radiol 2014 Aug 16;44(8):971-9. Epub 2014 Apr 16.

Department of Radiology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan,

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August 2014

Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

Pediatr Int 2014 Aug;56(4):e26-9

Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan; Division of Neonatology, Center for Maternal, Fetal and Neonatal Medicine, Fukuoka University Hospital, Fukuoka, Japan.

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August 2014

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

Congenit Anom (Kyoto) 2013 Dec;53(4):160-2

Department of Obstetrics and Gynecology, Saitama City Hospital, Saitama-shi, Saitama, Japan.

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December 2013