Chinault AC - Search Results

1

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC. Wong LJ, et al. Among authors: chinault ac. Clin Chem. 2008 Jul;54(7):1141-8. doi: 10.1373/clinchem.2008.103721. Epub 2008 May 16. Clin Chem. 2008. PMID: 18487280

2

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. Shchelochkov OA, et al. Among authors: chinault ac. Mol Genet Metab. 2009 Mar;96(3):97-105. doi: 10.1016/j.ymgme.2008.11.167. Epub 2009 Jan 12. Mol Genet Metab. 2009. PMID: 19138872

3

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

Chinault AC, Shaw CA, Brundage EK, Tang LY, Wong LJ. Chinault AC, et al. Genet Med. 2009 Jul;11(7):518-26. doi: 10.1097/GIM.0b013e3181abd83c. Genet Med. 2009. PMID: 19546809 Free article.

4

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.

Lee NC, Dimmock D, Hwu WL, Tang LY, Huang WC, Chinault AC, Wong LJ. Lee NC, et al. Among authors: chinault ac. Arch Dis Child. 2009 Jan;94(1):55-8. doi: 10.1136/adc.2008.139584. Arch Dis Child. 2009. PMID: 19103789

5

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

6

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.

7

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.

Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. Lalani SR, et al. Among authors: chinault ac. J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812404 Free PMC article.

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

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.

Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC. Ou Z, et al. Among authors: chinault ac. Genet Med. 2008 Apr;10(4):278-89. doi: 10.1097/GIM.0b013e31816b4420. Genet Med. 2008. PMID: 18414211 Free PMC article.

10

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM. del Gaudio D, et al. Among authors: chinault ac. Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841. Hum Mutat. 2008. PMID: 18752307

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