Publications by authors named "Nilay Gunes"

11Publications

Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.

Eur J Med Genet 2020 Apr 25;63(4):103819. Epub 2019 Nov 25.

Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103819DOI Listing
April 2020

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Hum Mutat 2020 01 14;41(1):133-139. Epub 2019 Oct 14.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.23928DOI Listing
January 2020

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://www.nature.com/articles/s10038-019-0602-8
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http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
July 2019

A Novel Mutation of in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.

Mol Syndromol 2019 Jan 20;9(5):266-270. Epub 2018 Jul 20.

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

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http://dx.doi.org/10.1159/000491568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362857PMC
January 2019

Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in .

Mol Syndromol 2018 May 24;9(3):134-140. Epub 2018 Apr 24.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000488438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006654PMC
May 2018

A Novel de novo Mutation in a Patient with Autosomal Dominant Omodysplasia.

Mol Syndromol 2017 Nov 8;8(6):318-324. Epub 2017 Sep 8.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000479721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701278PMC
November 2017

Two novel mutations in XYLT2 cause spondyloocular syndrome.

Am J Med Genet A 2017 Dec 8;173(12):3195-3200. Epub 2017 Sep 8.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38470DOI Listing
December 2017