Kurum Yazarı "Aydın, Hatip" Tıp Fakültesi Koleksiyonu İçin Listeleme
-
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.; Cebi, A. H.; Seyhan, S.; Cansu, A.; Aydın, Hacı Veli; İkbal, M. (Medecine Et Hygiene, 2016)22.5 MB deletion of 13q31.1-q34 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 ... -
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 ... -
Geç Tanili Rubinstein-Taybi Sendromlu Bir Olgu
Rubinstein-Taybi Sendromu (RSTS) karakteristik yüz bulgulari, kisa boy, orta-ağir entelektüel yetersizlik, geniş el ve ayak başparmaklari ile seyreden nadir bir genetik hastaliktir. Hastalarin yaşamlarinin ilk yillarinda ... -
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 ... -
Trizomi 8 mosaisizmi: Bir Olgu Sunumu
Çetinkaya, Arda; Mutlu, Mehmet Burak; Karaman, Selin; Aydın, Hatip; Kızıldeli, Cem Murat; Karaman, Ali (2018)Warkany sendromu 2 veya Trizomi 8 mosaisizmi iyi tanımlanmış,ancak çok nadir, kromozomal anomalidir. Fenotip normalile şiddetli malformasyon sendromu arasında son derece değişkenlikgösterir. Geniş klinik bulgular yelpazesi ...