Bacino CA - Search Results

1

SNP genotyping to screen for a common deletion in CHARGE syndrome.

Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JW. Lalani SR, et al. Among authors: bacino ca. BMC Med Genet. 2005 Feb 14;6:8. doi: 10.1186/1471-2350-6-8. BMC Med Genet. 2005. PMID: 15710038 Free PMC article.

2

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR. Stockton DW, et al. Among authors: bacino ca. Am J Med Genet. 1997 Aug 8;71(2):189-93. doi: 10.1002/(sici)1096-8628(19970808)71:2<189::aid-ajmg13>3.0.co;2-a. Am J Med Genet. 1997. PMID: 9217220

3

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.

Abou-Zahr F, Bejjani B, Kruyt FA, Kurg R, Bacino C, Shapira SK, Youssoufian H. Abou-Zahr F, et al. Am J Med Genet. 1999 Apr 23;83(5):388-91. doi: 10.1002/(sici)1096-8628(19990423)83:5<388::aid-ajmg9>3.0.co;2-1. Am J Med Genet. 1999. PMID: 10232749

4

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.

Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. Zhang W, et al. Among authors: bacino ca. Am J Hum Genet. 2000 Apr;66(4):1461-4. doi: 10.1086/302868. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739772 Free PMC article.

5

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: bacino ca. 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

6

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. Am J Med Genet. 2000 Jun 5;92(4):250-5. Am J Med Genet. 2000. PMID: 10842290

7

Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino CA. Berend SA, et al. Among authors: bacino ca. Am J Med Genet. 2002 May 15;109(4):311-7. doi: 10.1002/ajmg.10334. Am J Med Genet. 2002. PMID: 11992486

8

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.

Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. Lalani SR, et al. Am J Med Genet A. 2003 Apr 30;118A(3):260-6. doi: 10.1002/ajmg.a.20002. Am J Med Genet A. 2003. PMID: 12673657

9

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Heilstedt HA, et al. Among authors: bacino ca. Am J Hum Genet. 2003 May;72(5):1200-12. doi: 10.1086/375179. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687501 Free PMC article.

10

Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome.

Graham BH, Bacino CA. Graham BH, et al. Among authors: bacino ca. Am J Med Genet A. 2003 Jun 1;119A(2):234-7. doi: 10.1002/ajmg.a.10147. Am J Med Genet A. 2003. PMID: 12749072

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