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Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development 期刊论文
发表期刊: REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY. 出版年: 2017, 卷号: 6, 期号: 1, 页码: 58-65
作者:  Shojaei, Azadeh;  Ebrahimzadeh-Vesal, Reza;  Ali, Ahani;  Razzaghy-Azar, Maryam;  Khakpour, Golnaz;  Ghazi, Farideh;  Tavakkoly-Bazzaz, Javad
收藏  |  浏览/下载：21/0  |  提交时间：2021/01/08
Array-Comparative Genomic Hybridization  (Array-CGH)  Disorders of sex development (DSDs)  Mutation  
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion 期刊论文
发表期刊: MOLECULAR CYTOGENETICS. 出版年: 2015, 卷号: 8
作者:  Tassano, Elisa;  Mirabelli-Badenier, Marisol;  Veneselli, Edvige;  Puliti, Aldamaria;  Lerone, Margherita;  Vaccari, Carlotta Maria;  Morana, Giovanni;  Porta, Simona;  Gimelli, Giorgio;  Cuoco, Cristina
收藏  |  浏览/下载：13/0  |  提交时间：2019/11/29
Interstitial deletion  6q21q22.1  Array-CGH  Karyotype/phenotype correlation  Poland syndrome  
Comprehensive Genetic Analysis of OEIS Complex Reveals No Evidence for a Recurrent Microdeletion or Duplication 期刊论文
发表期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 出版年: 2011, 卷号: 155A, 期号: 1, 页码: 38-49
作者:  Vlangos, Christopher N.;  Siuniak, Amanda;  Ackley, Todd;  van Bokhoven, Hans;  Veltman, Joris;  Iyer, Ram;  Park, John M.;  Keppler-Noreuil, Kim;  Keegan, Catherine E.
收藏  |  浏览/下载：22/0  |  提交时间：2019/11/29
omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex  cloacal exstrophy  candidate gene analysis  array CGH  
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci 期刊论文
发表期刊: HUMAN REPRODUCTION. 出版年: 2010, 卷号: 25, 期号: 10, 页码: 2637-2646
作者:  Ledig, S.;  Hiort, O.;  Scherer, G.;  Hoffmann, M.;  Wolff, G.;  Morlot, S.;  Kuechler, A.;  Wieacker, P.
收藏  |  浏览/下载：25/0  |  提交时间：2019/11/29
XY gonadal dysgenesis  array CGH  diagnostic  candidate loci  
Private inherited microdeletion/microduplications: Implications in clinical practice 期刊论文
发表期刊: EUROPEAN JOURNAL OF MEDICAL GENETICS. 出版年: 2008, 卷号: 51, 期号: 5, 页码: 409-416
作者:  Mencarelli, Maria Antonietta;  Katzaki, Eleni;  Papa, Filomena Tiziana;  Sampieri, Katia;  Caselli, Rossella;  Uliana, Vera;  Pollazzon, Marzia;  Canitano, Roberto;  Mostardini, Rosa;  Grosso, Salvatore;  Longo, Ilaria;  Ariani, Francesca;  Meloni, Ilaria;  Hayek, Josef;  Balestri, Paolo;  Mari, Francesca;  Renieri, Alessandra
收藏  |  浏览/下载：8/0  |  提交时间：2019/11/28
Oligo array-CGH  Inherited rearrangements  Mental retardation