المؤلفون: Kutlay NY; Ankara University School of Medicine, Medical Genetics, Ankara, Turkey. nykutlay@medicine.ankara.edu.tr., Pekpak E; Ankara University School of Medicine, Pediatric Hematology and Oncology, Ankara, Turkey., Altıner S; Ankara University School of Medicine, Medical Genetics, Ankara, Turkey., Ileri T; Ankara University School of Medicine, Pediatric Hematology and Oncology, Ankara, Turkey., Vicdan AN; Ankara University School of Medicine, Medical Genetics, Ankara, Turkey., Dinçaslan H; Ankara University School of Medicine, Pediatric Hematology and Oncology, Ankara, Turkey., Ince EU; Ankara University School of Medicine, Pediatric Hematology and Oncology, Ankara, Turkey., Tukun FA; Ankara University School of Medicine, Medical Genetics, Ankara, Turkey.

المصدر: International journal of hematology [Int J Hematol] 2016 Sep; Vol. 104 (3), pp. 368-77. Date of Electronic Publication: 2016 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-3774 (Electronic) Linking ISSN: 09255710 NLM ISO Abbreviation: Int J Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Diploidy* , Gene Dosage*, Core Binding Factor Alpha 2 Subunit/*genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis , Proto-Oncogene Proteins c-ets/*genetics , Repressor Proteins/*genetics, Child ; Child, Preschool ; Humans ; In Situ Hybridization, Fluorescence ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Prognosis ; ETS Translocation Variant 6 Protein

المؤلفون: Topcu V, Ilgin-Ruhi H, Siklar Z, Karabulut HG, Berberoglu M, Hacihamdioglu B, Savas-Erdeve S, Aycan Z, Peltek-Kendirci HN, Ocal G, Tukun FA

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2015 Nov 01; Vol. 28 (11-12), pp. 1257-63.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Exons* , Mutation* , Phenotype*, Androgen-Insensitivity Syndrome/*genetics , Disorder of Sex Development, 46,XY/*genetics , Receptors, Androgen/*genetics , Sexual Development/*genetics, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Testosterone

المؤلفون: Topcu V, Ilgin-Ruhi H, Yurur-Kutlay N, Ekici C, Vicdan A, Tukun FA

المصدر: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2014; Vol. 25 (1), pp. 1-6.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Edition Medecine Et Hygiene Country of Publication: Switzerland NLM ID: 9015261 Publication Model: Print Cited Medium: Print ISSN: 1015-8146 (Print) Linking ISSN: 10158146 NLM ISO Abbreviation: Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Trisomy*/genetics , Trisomy*/pathology , Trisomy*/physiopathology, Abnormalities, Multiple/*genetics , Developmental Disabilities/*genetics , Language Development Disorders/*genetics , Polydactyly/*genetics, Abnormalities, Multiple/pathology ; Adult ; Child, Preschool ; Chromosomes, Human, Pair 4/genetics ; Chromosomes, Human, Pair 9/genetics ; Developmental Disabilities/pathology ; Developmental Disabilities/physiopathology ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Language Development Disorders/pathology ; Language Development Disorders/physiopathology ; Magnetic Resonance Imaging ; Male ; Polydactyly/pathology

SCR Disease Name: Chromosome 4, trisomy 4q