Lalani SR - Search Results

1

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Nagamani SC, et al. Among authors: lalani sr. Eur J Hum Genet. 2011 Mar;19(3):280-6. doi: 10.1038/ejhg.2010.184. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150890 Free PMC article.

2

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG. Sutton VR, et al. Among authors: lalani sr. Am J Med Genet. 2002 Sep 15;112(1):23-7. doi: 10.1002/ajmg.10703. Am J Med Genet. 2002. PMID: 12239715

3

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Lalani SR, et al. Arch Neurol. 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. Arch Neurol. 2005. PMID: 15710863

4

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Lalani SR, et al. Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16400610 Free PMC article.

5

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Lalani SR, Sahoo T, Sanders ME, Peters SU, Bejjani BA. Lalani SR, et al. BMC Med Genet. 2006 Feb 10;7:8. doi: 10.1186/1471-2350-7-8. BMC Med Genet. 2006. PMID: 16472378 Free PMC article.

6

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.

Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Sahoo T, et al. Among authors: lalani sr. Genet Med. 2006 Nov;8(11):719-27. doi: 10.1097/01.gim.0000245576.47154.63. Genet Med. 2006. PMID: 17108764 Free article.

7

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: lalani sr. Clin Genet. 2007 Oct;72(4):329-38. doi: 10.1111/j.1399-0004.2007.00876.x. Clin Genet. 2007. PMID: 17850629

8

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: lalani sr. 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

9

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: lalani sr. 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.

10

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: lalani sr. 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.

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