Nursel Elçioğlu

Nursel Elçioğlu

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Nursel Elçioğlu

Nursel Elçioğlu

Publications by authors named "Nursel Elçioğlu"

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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

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

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

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

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Am J Med Genet A 2019 06 21;179(6):908-914. Epub 2019 Mar 21.

Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61119
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http://dx.doi.org/10.1002/ajmg.a.61119DOI Listing
June 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 EYA1 variants causing Branchio-oto-renal syndrome.

Int J Pediatr Otorhinolaryngol 2017 Jul 26;98:59-63. Epub 2017 Apr 26.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.04.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516569PMC
July 2017

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Am J Hum Genet 2017 Jul;101(1):149-156

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501868PMC
July 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

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Hum Mol Genet 2015 Dec 22;24(23):6565-79. Epub 2015 Sep 22.

Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddv345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634368PMC
December 2015

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Orphanet J Rare Dis 2015 Sep 30;10:128. Epub 2015 Sep 30.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA.

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http://dx.doi.org/10.1186/s13023-015-0345-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589207PMC
September 2015

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

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

JIMD Rep 2014 16;14:1-9. Epub 2013 Nov 16.

Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1007/8904_2013_276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213335PMC
October 2014

Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism.

Br J Ophthalmol 2014 Aug 21;98(8):1087-90. Epub 2014 Mar 21.

Department of Ophthalmology, Marmara University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304766DOI Listing
August 2014

Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism.

Br J Ophthalmol 2014 Aug 29;98(8):1135-6. Epub 2014 May 29.

Department of Ophthalmology, Marmara University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1136/bjophthalmol-2014-305512DOI Listing
August 2014

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

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

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

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Hum Mutat 2011 Apr 8;32(4):E2069-78. Epub 2011 Feb 8.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.21457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429868PMC
April 2011

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

A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation.

Turk J Pediatr 2009 Mar-Apr;51(2):174-9

Department of Genetics, Zeynep Kamil Women's and Children's Hospital, Istanbul, Turkey.

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June 2009

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Nat Genet 2007 Jun 29;39(6):727-9. Epub 2007 Apr 29.

Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1038/ng2038DOI Listing
June 2007

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

Tracheobronchial calcification associated with Keutel syndrome.

Turk J Pediatr 2006 Oct-Dec;48(4):357-61

Department of Pediatrics, Marmara University Faculty of Medicine, Istanbul, Turkey.

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April 2007

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Mol Genet Metab 2006 Aug 21;88(4):359-63. Epub 2006 Apr 21.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2006.03.003DOI Listing
August 2006

Short rib-polydactyly syndrome: a case report.

Turk J Pediatr 2003 Oct-Dec;45(4):359-62

Department of Pediatrics, Adnan Menderes University, Faculty of Medicine, Aydin, Turkey.

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February 2004

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

Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree.

Am J Med Genet A 2003 Aug;121A(1):25-30

Department of Ophthalmology, Marmara University, Medical School, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.20083DOI Listing
August 2003

Human piebaldism: six novel mutations of the proto-oncogene KIT.

Hum Mutat 2002 Sep;20(3):234

Medical Genetics Unit, St George's Hospital Medical School, London, United Kingdom.

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http://dx.doi.org/10.1002/humu.9057DOI Listing
September 2002

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