Shaffer LG - 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: shaffer lg. Am J Med Genet. 2002 Feb 15;108(1):69-74. doi: 10.1002/ajmg.10222. Am J Med Genet. 2002. PMID: 11857553

2

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG. Sutton VR, et al. Among authors: shaffer lg. Am J Med Genet. 2002 Sep 15;112(1):23-7. doi: 10.1002/ajmg.10703. Am J Med Genet. 2002. PMID: 12239715

3

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.

Bacino CA, Kashork CD, Davino NA, Shaffer LG. Bacino CA, et al. Among authors: shaffer lg. Am J Med Genet. 2000 Jun 5;92(4):250-5. Am J Med Genet. 2000. PMID: 10842290

4

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. Among authors: shaffer lg. 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

5

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: shaffer lg. 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

6

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: shaffer lg. Am J Med Genet. 2002 Sep 1;111(4):362-5. doi: 10.1002/ajmg.10566. Am J Med Genet. 2002. PMID: 12210293

7

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.

Mutchinick OM, Shaffer LG, Kashork CD, Cervantes EI. Mutchinick OM, et al. Among authors: shaffer lg. Am J Med Genet. 1999 Jul 16;85(2):99-104. doi: 10.1002/(sici)1096-8628(19990716)85:2<99::aid-ajmg1>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10406660

8

Pure trisomy 10p involving an isochromosome 10p.

Berend SA, Shaffer LG, Bejjani BA. Berend SA, et al. Among authors: shaffer lg. Clin Genet. 1999 May;55(5):367-71. doi: 10.1034/j.1399-0004.1999.550512.x. Clin Genet. 1999. PMID: 10422809

9

Caution: telomere crossing.

Shaffer LG, Kashork CD, Bacino CA, Benke PJ. Shaffer LG, et al. Am J Med Genet. 1999 Nov 26;87(3):278-80. doi: 10.1002/(sici)1096-8628(19991126)87:3<278::aid-ajmg19>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10564888 No abstract available.

10

Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.

Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG. Berend SA, et al. Among authors: shaffer lg. Am J Med Genet. 2000 Apr 10;91(4):313-7. Am J Med Genet. 2000. PMID: 10766989

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