Chinault AC - Search Results

1

Identification of critical regions for clinical features of distal 10q deletion syndrome.

Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. Yatsenko SA, et al. Among authors: chinault ac. Clin Genet. 2009 Jul;76(1):54-62. doi: 10.1111/j.1399-0004.2008.01115.x. Epub 2009 Jun 22. Clin Genet. 2009. PMID: 19558528 Free 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

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.

4

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.

5

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW. Shao L, et al. Among authors: chinault ac. Am J Med Genet A. 2008 Sep 1;146A(17):2242-51. doi: 10.1002/ajmg.a.32399. Am J Med Genet A. 2008. PMID: 18663743 Free PMC article.

6

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.

Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SW. Brunetti-Pierri N, et al. Among authors: chinault ac. Clin Genet. 2007 Nov;72(5):411-9. doi: 10.1111/j.1399-0004.2007.00896.x. Epub 2007 Oct 3. Clin Genet. 2007. PMID: 17916097

7

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

8

Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.

Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T. Erez A, et al. Among authors: chinault ac. Am J Med Genet A. 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. Am J Med Genet A. 2010. PMID: 20186791 Review.

9

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.

Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Kang SH, et al. Among authors: chinault ac. Clin Genet. 2007 Oct;72(4):329-38. doi: 10.1111/j.1399-0004.2007.00876.x. Clin Genet. 2007. PMID: 17850629

10

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.

Ou Z, Martin DM, Bedoyan JK, Cooper ML, Chinault AC, Stankiewicz P, Cheung SW. Ou Z, et al. Among authors: chinault ac. Am J Med Genet A. 2008 Oct 1;146A(19):2480-9. doi: 10.1002/ajmg.a.32398. Am J Med Genet A. 2008. PMID: 18666230 Free article.

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

112 results

Search Page

Filters