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Pure trisomy 10p involving an isochromosome 10p.
Berend SA, Shaffer LG, Bejjani BA. Berend SA, et al. Among authors: bejjani ba. Clin Genet. 1999 May;55(5):367-71. doi: 10.1034/j.1399-0004.1999.550512.x. Clin Genet. 1999. PMID: 10422809
Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. McCormack WM Jr, et al. Among authors: bejjani ba. Am J Med Genet. 2002 Nov 1;112(4):384-9. doi: 10.1002/ajmg.10659. Am J Med Genet. 2002. Corrected and republished in: Am J Med Genet A. 2003 Apr 15;118A(2):384-9. PMID: 12376941 Corrected and republished.
Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory.
Atkins KE, Gregg A, Spikes AS, Bacino CA, Bejjani BA, Kirkland J, Shaffer LG. Atkins KE, et al. Among authors: bejjani ba. Am J Med Genet. 2000 Apr 24;91(5):377-82. doi: 10.1002/(sici)1096-8628(20000424)91:5<377::aid-ajmg11>3.0.co;2-8. Am J Med Genet. 2000. PMID: 10767002
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Stankiewicz P, et al. Among authors: bejjani ba. Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Am J Hum Genet. 2009. PMID: 19500772 Free PMC article.
94 results