Bejjani BA - Search Results

1

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

Mégarbané A, Bejjani BA, Shaffer LG, Jambart S, Souraty N, Kashork CD, Le Merrer M. Mégarbané A, et al. Among authors: bejjani ba. Am J Med Genet. 2002 Feb 15;108(1):69-74. doi: 10.1002/ajmg.10222. Am J Med Genet. 2002. PMID: 11857553

2

Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

Berend SA, Bejjani BA, McCaskill C, Shaffer LG. Berend SA, et al. Among authors: bejjani ba. Am J Med Genet. 2002 Sep 1;111(4):362-5. doi: 10.1002/ajmg.10566. Am J Med Genet. 2002. PMID: 12210293

3

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG. Bejjani BA, et al. Am J Med Genet A. 2005 Apr 30;134(3):259-67. doi: 10.1002/ajmg.a.30621. Am J Med Genet A. 2005. PMID: 15723295

4

Detection of low-level mosaicism by array CGH in routine diagnostic specimens.

Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA. Ballif BC, et al. Among authors: bejjani ba. Am J Med Genet A. 2006 Dec 15;140(24):2757-67. doi: 10.1002/ajmg.a.31539. Am J Med Genet A. 2006. PMID: 17103431

5

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

6

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.

7

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Yu W, et al. Among authors: bejjani ba. Hum Mol Genet. 2003 Sep 1;12(17):2145-52. doi: 10.1093/hmg/ddg230. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915473

8

Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.

Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: bejjani ba. Genet Med. 2007 Mar;9(3):150-62. doi: 10.1097/gim.0b013e3180312087. Genet Med. 2007. PMID: 17413419 Free article.

9

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. Shaffer LG, et al. Among authors: bejjani ba. Genet Med. 2007 Sep;9(9):607-16. doi: 10.1097/gim.0b013e3181484b49. Genet Med. 2007. PMID: 17873649 Free article. Review.

10

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.

Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC. Shaffer LG, et al. Among authors: bejjani ba. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):335-45. doi: 10.1002/ajmg.c.30152. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910076 Review.

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