Publications by authors named "Rasim Ozgur Rosti"

25Publications

Homozygous mutation in leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

J Med Genet 2017 06 9;54(6):399-403. Epub 2017 Mar 9.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104237DOI Listing
June 2017

Teratogenicity of Antiepileptic Drugs.

Clin Psychopharmacol Neurosci 2017 Feb;15(1):19-27

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.9758/cpn.2017.15.1.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290711PMC
February 2017

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Am J Med Genet A 2016 06 13;170(6):1391-9. Epub 2016 Apr 13.

Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.37652DOI Listing
June 2016

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

Am J Med Genet A 2015 Nov 24;167A(11):2503-2507. Epub 2015 Jun 24.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.37225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011459PMC
November 2015

Novel STAMBP mutation and additional findings in an Arabic family.

Am J Med Genet A 2015 Apr 18;167A(4):805-9. Epub 2015 Feb 18.

Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.36782DOI Listing
April 2015

Mutations in CSPP1 lead to classical Joubert syndrome.

Am J Hum Genet 2014 Jan 19;94(1):80-6. Epub 2013 Dec 19.

Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882909PMC
January 2014

A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.

Turk J Pediatr 2011 May-Jun;53(3):346-51

Department of Medical Genetics, Gülhane Military Medical Academy, Ankara, Turkey.

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November 2011

Rare chromosomal complement of trisomy 21 in a boy conceived only by IVF.

Reprod Biomed Online 2010 Nov 16;21(5):721-2; author reply 723. Epub 2010 Aug 16.

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http://dx.doi.org/10.1016/j.rbmo.2010.07.013DOI Listing
November 2010

A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.

Turk J Pediatr 2009 Nov-Dec;51(6):613-6

Department of Medical Genetics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.

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March 2010

Kabuki make-up syndrome with unilateral renal agenesis.

Turk J Pediatr 2009 May-Jun;51(3):298-300

Department of Medical Genetics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.

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October 2009

Ataxia with vitamin E deficiency associated with deafness.

Turk J Pediatr 2008 Sep-Oct;50(5):471-5

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

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January 2009

Angelman syndrome: clinical findings and follow-up data of 14 patients.

Turk J Pediatr 2008 Mar-Apr;50(2):137-42

Department of Pediatrics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

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September 2008