Bacino CA - Search Results

1

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.

Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA; Undiagnosed Diseases Network; Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. Merriweather A, et al. Among authors: bacino ca. Am J Med Genet A. 2022 Jul;188(7):2198-2203. doi: 10.1002/ajmg.a.62747. Epub 2022 Apr 9. Am J Med Genet A. 2022. PMID: 35396900 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

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

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

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.

8

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

9

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Peters SU, et al. Among authors: bacino ca. Am J Med Genet A. 2004 Jul 15;128A(2):110-3. doi: 10.1002/ajmg.a.30065. Am J Med Genet A. 2004. PMID: 15213998

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

296 results

Search Page

Filters