Publications by authors named "Joshi Stephen"

25Publications

Diagnosis of Chediak Higashi disease in a 67-year old woman.

Am J Med Genet A 2020 Dec 29;182(12):3007-3013. Epub 2020 Sep 29.

Section of the Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.61886DOI Listing
December 2020

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.

Am J Med Genet A 2018 12 4;176(12):2930-2933. Epub 2018 Dec 4.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.40658DOI Listing
December 2018

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

BMC Med Genet 2018 05 16;19(1):80. Epub 2018 May 16.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12881-018-0597-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956920PMC
May 2018

Unusual skin manifestations in a patient with menkes disease.

Am J Med Genet A 2016 11;170(11):3039-3040

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.37696DOI Listing
November 2016

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Hum Mutat 2016 11 21;37(11):1144-1148. Epub 2016 Aug 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/humu.23054DOI Listing
November 2016

Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta.

Indian Pediatr 2016 Mar;53(3):250-2

Departments of Medical Genetics and *Orthopaedics, Nizams Institute of Medical Sciences, Hyderabad, Telangana; and Department of Medical Genetics, SGPGIMS, Lucknow, Uttar Pradesh; India. Correspondence to: Dr Prajnya Ranganath, Department of Medical Genetics, Nizams Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana 500 082, India.

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http://dx.doi.org/10.1007/s13312-016-0830-3DOI Listing
March 2016

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.

Indian J Pediatr 2016 Sep 1;83(9):1003-5. Epub 2016 Feb 1.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-015-1947-4DOI Listing
September 2016

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

J Med Genet 2015 Dec 18;52(12):830-9. Epub 2015 Sep 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517294PMC
December 2015

Consanguinity as an Adjunct Diagnostic Tool.

Indian J Pediatr 2016 Mar 4;83(3):258-60. Epub 2015 Jul 4.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India.

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http://link.springer.com/content/pdf/10.1007%2Fs12098-015-17
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http://link.springer.com/10.1007/s12098-015-1764-9
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http://dx.doi.org/10.1007/s12098-015-1764-9DOI Listing
March 2016

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Eur J Med Genet 2015 Jan 24;58(1):21-7. Epub 2014 Oct 24.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.10.001DOI Listing
January 2015

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Am J Med Genet A 2014 Jun 25;164A(6):1482-9. Epub 2014 Mar 25.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.36481DOI Listing
June 2014

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.

Indian J Pediatr 2014 Jun 6;81(6):617-9. Epub 2013 Aug 6.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Rae Bareilly Road, Lucknow, 226 014, India.

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http://dx.doi.org/10.1007/s12098-013-1117-5DOI Listing
June 2014