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6. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Klopocki E; Graul-Neumann LM; Grieben U; Tönnies H; Ropers HH; Horn D; Mundlos S; Ullmann R Eur J Pediatr; 2008 Aug; 167(8):903-8. PubMed ID: 17932688 [TBL] [Abstract][Full Text] [Related]
7. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia. Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028 [TBL] [Abstract][Full Text] [Related]
8. Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Van Esch H; Backx L; Pijkels E; Fryns JP Eur J Med Genet; 2009; 52(2-3):153-6. PubMed ID: 19233321 [TBL] [Abstract][Full Text] [Related]
9. An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature. L Ng IS; Chin WH; P Lim EC; Tan EC Twin Res Hum Genet; 2011 Aug; 14(4):333-9. PubMed ID: 21787116 [TBL] [Abstract][Full Text] [Related]
10. A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. McInnes LA; Nakamine A; Pilorge M; Brandt T; Jiménez González P; Fallas M; Manghi ER; Edelmann L; Glessner J; Hakonarson H; Betancur C; Buxbaum JD Mol Autism; 2010 Mar; 1(1):5. PubMed ID: 20678247 [TBL] [Abstract][Full Text] [Related]
12. Refining critical regions in 15q24 microdeletion syndrome pertaining to autism. Liu Y; Zhang Y; Zarrei M; Dong R; Yang X; Zhao D; Scherer SW; Gai Z Am J Med Genet B Neuropsychiatr Genet; 2020 Jun; 183(4):217-226. PubMed ID: 31953991 [TBL] [Abstract][Full Text] [Related]
13. Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q. Calounova G; Hedvicakova P; Silhanova E; Kreckova G; Sedlacek Z Am J Med Genet A; 2008 Aug; 146A(15):1955-62. PubMed ID: 18627056 [TBL] [Abstract][Full Text] [Related]
14. The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature. Torgyekes E; Shanske AL; Anyane-Yeboa K; Nahum O; Pirzadeh S; Blumfield E; Jobanputra V; Warburton D; Levy B Am J Med Genet A; 2011 Aug; 155A(8):1884-96. PubMed ID: 21744488 [TBL] [Abstract][Full Text] [Related]
15. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Edelmann L; Pandita RK; Morrow BE Am J Hum Genet; 1999 Apr; 64(4):1076-86. PubMed ID: 10090893 [TBL] [Abstract][Full Text] [Related]
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19. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Sahoo T; Bacino CA; German JR; Shaw CA; Bird LM; Kimonis V; Anselm I; Waisbren S; Beaudet AL; Peters SU Eur J Hum Genet; 2007 Sep; 15(9):943-9. PubMed ID: 17522620 [TBL] [Abstract][Full Text] [Related]
20. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG Am J Hum Genet; 2010 Mar; 86(3):454-61. PubMed ID: 20206336 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]