Bacino CA - Search Results

1

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.

Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT. Lu W, et al. Among authors: bacino ca. Am J Med Genet A. 2012 Jul;158A(7):1620-7. doi: 10.1002/ajmg.a.35418. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678995 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

Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart.

Bacino CA, Lee B, Spikes AS, Shaffer LG. Bacino CA, et al. Am J Med Genet. 1999 Jan 15;82(2):128-31. doi: 10.1002/(sici)1096-8628(19990115)82:2<128::aid-ajmg5>3.0.co;2-4. Am J Med Genet. 1999. PMID: 9934975

4

Caution: telomere crossing.

Shaffer LG, Kashork CD, Bacino CA, Benke PJ. Shaffer LG, et al. Among authors: bacino ca. 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.

5

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

6

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

7

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

8

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.

Sahoo T, Naeem R, Pham K, Chheng S, Noblin ST, Bacino CA, Gambello MJ. Sahoo T, et al. Among authors: bacino ca. Am J Med Genet A. 2005 Feb 15;133A(1):93-8. doi: 10.1002/ajmg.a.30535. Am J Med Genet A. 2005. PMID: 15637724 Review.

9

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Sahoo T, et al. Among authors: bacino ca. J Med Genet. 2006 Jun;43(6):512-6. doi: 10.1136/jmg.2005.036913. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183798 Free PMC article.

10

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA. Lennon PA, et al. Among authors: bacino ca. Am J Med Genet A. 2006 Jun 1;140(11):1156-63. doi: 10.1002/ajmg.a.31243. Am J Med Genet A. 2006. PMID: 16688748

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