Chinault AC - Search Results

1

A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR. Anderson KL, et al. Among authors: chinault ac. Am J Hum Genet. 1995 Dec;57(6):1351-63. Am J Hum Genet. 1995. PMID: 8533764 Free PMC article.

2

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR. Yatsenko SA, et al. Among authors: chinault ac. Hum Mol Genet. 2009 Jun 1;18(11):1924-36. doi: 10.1093/hmg/ddp114. Epub 2009 Mar 17. Hum Mol Genet. 2009. PMID: 19293338 Free PMC article.

3

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.

Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Pentao L, et al. Among authors: chinault ac. Nat Genet. 1992 Dec;2(4):292-300. doi: 10.1038/ng1292-292. Nat Genet. 1992. PMID: 1303282

4

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

Kang SH, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, Sahoo T, Bacino CA, Chinault AC, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Kang SH, et al. Among authors: chinault ac. Am J Med Genet A. 2010 May;152A(5):1111-26. doi: 10.1002/ajmg.a.33278. Am J Med Genet A. 2010. PMID: 20340098 Free PMC article.

5

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Ou Z, Jarmuz M, Sparagana SP, Michaud J, Décarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P. Ou Z, et al. Among authors: chinault ac. Hum Genet. 2006 Sep;120(2):227-37. doi: 10.1007/s00439-006-0200-7. Epub 2006 Jun 22. Hum Genet. 2006. PMID: 16791615

6

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. Ben-Shachar S, et al. Among authors: chinault ac. Am J Hum Genet. 2008 Jan;82(1):214-21. doi: 10.1016/j.ajhg.2007.09.014. Am J Hum Genet. 2008. PMID: 18179902 Free PMC article.

7

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.

Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI. Guzzetta V, et al. Among authors: chinault ac. Genomics. 1992 Jul;13(3):551-9. doi: 10.1016/0888-7543(92)90124-b. Genomics. 1992. PMID: 1639385

8

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. Chen KS, et al. Among authors: chinault ac. Nat Genet. 1997 Oct;17(2):154-63. doi: 10.1038/ng1097-154. Nat Genet. 1997. PMID: 9326934

9

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Nagamani SC, et al. Among authors: chinault ac. J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6. J Med Genet. 2009. PMID: 19584063

10

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Cheung SW, et al. Among authors: chinault ac. Genet Med. 2005 Jul-Aug;7(6):422-32. doi: 10.1097/01.gim.0000170992.63691.32. Genet Med. 2005. PMID: 16024975 Free article.

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