A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review

Autor: Paul Coucke, Emre Kirat, Alper Gezdirici, Erkan Koparir, Anne De Paepe, Mehmet Seven, Bert Callewaert, Mehmet Bugrahan Duz

Publikováno v: Clinical Dysmorphology. 26:142-147

Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecfb6f1bf6b9ed49a3905351b0b552f5
https://doi.org/10.1097/mcd.0000000000000179

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve–Melchior–Clausen syndrome

Autor: Asuman Koparir, Mustafa Ozen, Omer Faruk Karatas, Heyko Skladny, Hatip Aydin, Erkan Koparir, Elif Fenercioglu, Gülgün S. Güven, Alper Gezdirici, Mehmet Seven, Hakan Ulucan

Publikováno v: Clinical Dysmorphology. 23:1-7

Dyggve-Melchior-Clausen syndrome (DMC) (MIM #223800) is a rare autosomal-recessive type of skeletal dysplasia accompanied by variable degrees of intellectual disability (ID). It is characterized by progressive spondyloepimetaphyseal dysplasia leading

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https://doi.org/10.1097/mcd.0000000000000020

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Autor: Mala Isrie, K Doonanco, Stéphanie Moortgat, Andi H. Hansen, Valeria Marton, Norma Leonard, Erica E. Davis, Faten Tinsa, Jasmin Morandell, Ender Karaca, Nicholas Katsanis, Hilde Van Esch, Elena Porta Dapena, Alejandro Sifrim, Francesca Cristofoli, David A. Keays, Zachari A. Kupchinsky, Nicholas J. Cowan, Joris Vermeesch, Martin W. Breuss, Celia Maria Rodriguez-Rodriguez, Erkan Koparir, Guoling Tian, Hakan Ulucan

Publikováno v: American journal of human genetics, 97(6), 790-800. Cell Press
Isrie, M, Breuss, M, Tian, G, Hansen, A H, Cristofoli, F, Morandell, J, Kupchinsky, Z A, Sifrim, A, Rodriguez-Rodriguez, C M, Dapena, E P, Doonanco, K, Leonard, N, Tinsa, F, Moortgat, S, Ulucan, H, Koparir, E, Karaca, E, Katsanis, N, Marton, V, Vermeesch, J R, Davis, E E, Cowan, N J, Keays, D A & Van Esch, H 2015, ' Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type ', American journal of human genetics, vol. 97, no. 6, pp. 790-800 . https://doi.org/10.1016/j.ajhg.2015.10.014

Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65841a4351a6d4ebb0981c7151205a44
https://research.vumc.nl/en/publications/49610c3c-b8df-42c7-9a8f-0fa39eeefd81

A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia

Autor: Alper Gezdirici, Mehmet Seven, Hakan Ulucan, Alper Yenigun, Mustafa Ozen, Elif Yosunkaya, Erkan Koparir, Adnan Yuksel

Manuscript Number: CD-D-12-00025R1 Full Title: A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia Article Type: Short Case Report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae3a7d57ad295c9e0033f254edd1842
http://hdl.handle.net/20.500.12645/26103

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

Autor: Asuman Koparir, Ender Karaca, Tulay Guran, Nursel Elcioglu, Salih Coşkun, Özlem Sezer, Sevcan Tug Bozdogan, Alper Han Cebi, Jill V. Hunter, James R. Lupski, Shalini N. Jhangiani, Sedat Işıkay, Hatip Aydin, Erkan Koparir, Dilek Aktas, Adnan Yuksel, Davut Gul, Mehmed M. Atik, Burak Durmaz, Mehmet Ture, Ian M. Campbell, Wendy K. Chung, Tamar Harel, Emre Kirat, Mahmut Selman Yildirim, Ayse Aksoy, Mehmet Bugrahan Duz, John D. Overton, Tulay Tos, Claudia Gonzaga-Jauregui, Darryl C. De Vivo, Yavuz Bayram, Kadri Karaer, Gozde Yesil, Wojciech Wiszniewski, Davut Pehlivan, Eric Boerwinkle, Huseyin Aslan, Hakan Ulucan, Ozgur Cogulu, Fatma Ekici, Vehap Topcu, Elif Fenercioglu, Mehmet Seven, Alper Gezdirici, Salih Cicek, Tomasz Gambin, Tahsin Yakut, Mustafa Ozen, Mevlit Ikbal, Donna M. Muzny, Zeynep Coban Akdemir, Elif Yilmaz Gulec, Preti Jain, Bilge Geckinli, Sukru Candan, Richard A. Gibbs, Serkan Erdin, Mehmet Alikasifoglu, Ozge Ozalp Yuregir, Ferda Ozkinay, Hilde Van Esch, David R. Adams, Bo Yuan

Publikováno v: Neuron. (3):499-513

WOS: 000365765400011
PubMed ID: 26539891
Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7df9188aa3820587dc35c943acbba8c9