Nursel H Elcioglu

Nursel H Elcioglu

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Nursel H Elcioglu

Nursel H Elcioglu

Publications by authors named "Nursel H Elcioglu"

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

J Bone Miner Res 2019 Oct 5;34(10):1873-1879. Epub 2019 Aug 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/jbmr.3805DOI Listing
October 2019

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Am J Hum Genet 2018 07 7;103(1):115-124. Epub 2018 Jun 7.

Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035164PMC
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

Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

J Clin Immunol 2018 05 16;38(4):494-502. Epub 2018 May 16.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Via Ariosto 13, 20145, Milan, Italy.

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http://dx.doi.org/10.1007/s10875-018-0508-9DOI Listing
May 2018

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

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

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

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

Hum Mol Genet 2015 Jul 3;24(13):3708-17. Epub 2015 Apr 3.

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and.

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http://dx.doi.org/10.1093/hmg/ddv115DOI Listing
July 2015

CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Hum Mol Genet 2015 Apr 5;24(8):2267-73. Epub 2015 Jan 5.

Institute of Human Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany,

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http://dx.doi.org/10.1093/hmg/ddu744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380072PMC
April 2015

Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study.

Turk J Pediatr 2012 Nov-Dec;54(6):617-25

Department of Pediatric Genetics, Marmara University Faculty of Medicine, İstanbul.

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July 2014

PAPSS2 mutations cause autosomal recessive brachyolmia.

J Med Genet 2012 Aug 11;49(8):533-8. Epub 2012 Jul 11.

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

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http://dx.doi.org/10.1136/jmedgenet-2012-101039DOI Listing
August 2012

Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.

Am J Med Genet A 2010 Oct;152A(10):2628-33

Dermatology Clinic, Haydarpasa Numune Training and Research Hospital, and Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33649DOI Listing
October 2010

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region.

Am J Med Genet A 2007 Jun;143A(12):1308-12

Genetic Disorders Unit, Department of Pediatrics, Marmara University Medical Faculty, Istanbul, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.31766
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http://dx.doi.org/10.1002/ajmg.a.31766DOI Listing
June 2007

Metatropic dysplasia lethal variants.

Pediatr Radiol 2004 Jan 18;34(1):66-74. Epub 2003 Oct 18.

Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, WCIN 3JH, UK.

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http://dx.doi.org/10.1007/s00247-003-1063-xDOI Listing
January 2004

Recessive omodysplasia: five new cases and review of the literature.

Pediatr Radiol 2004 Jan 18;34(1):75-82. Epub 2003 Oct 18.

Department of Pediatric Genetics, Marmara University Hospital, Tophanelioglu cad 15, Altunizade, 34660 Istanbul, Turkey.

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http://link.springer.com/10.1007/s00247-003-1064-9
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http://dx.doi.org/10.1007/s00247-003-1064-9DOI Listing
January 2004

Diagnostic dilemmas in the short rib-polydactyly syndrome group.

Am J Med Genet 2002 Sep;111(4):392-400

Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey.

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http://doi.wiley.com/10.1002/ajmg.10562
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http://dx.doi.org/10.1002/ajmg.10562DOI Listing
September 2002