Kurum Yazarı "Aydın, Hatip" Scopus İndeksli Yayınlar Koleksiyonu İçin Listeleme
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22.5 MB deletion of 13q31.1-q34 associated with HPE, DWM, and HSCR: A case report and redefining the smallest deleted regions
Alp, M. Y.; Çebi, A.H.; Seyhan, S.; Cansu, A.; Aydın, Hacı Veli; İkbal, M. (Editions Medecine et Hygiene, 2016)22.5 MB deletion ofliqil. l-qi4 associated with HPE, DWM, and HSCR: A case report and redefining the smallest deleted regions: Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal ... -
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Çoban; Lupski, James R.; Aydın, Hatip (Cell Press, 2015)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. We applied whole exome ... -
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Kouz, K.; Lissewski, C.; Spranger, S.; Mitter, D.; Riess, A.; Lopez-Gonzalez, V.; Zenker, M. (Nature Publishing Group, 2016)Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused ... -
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
Bayram, Yavuz; Karaca, Ender; Akdemir, Zeynep Çoban; Yılmaz, Elif Ozdamar; Tayfun, Gülsen Akay; Aydın, Hatip; Lupski, James R. (Amer Soc Clinical Investigation Inc, 2016)BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described ... -
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
Mutlu, Mehmet Burak; Çetinkaya, Arda; Koç, Nermin; Ceylaner, Gülay; Ergüner, Bekir; Aydın, Hatip; Karaman, Ali (Elsevier Science Bv, 2016)Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus ... -
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine, Ingrid; Posey, Jennifer E.; Grochowski, Christopher M.; Jhangiani, Shalini N.; Rosenheck, Sarah; Kleyner, Robert; Lupski, James R. (Cell Press, 2019)Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for ...