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13,996 results

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Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A. Bayer DK, et al. Among authors: patel a. Clin Exp Immunol. 2014 Dec;178(3):459-69. doi: 10.1111/cei.12421. Clin Exp Immunol. 2014. PMID: 25046553 Free PMC article.
Low factor XII level in an individual with Sotos syndrome.
Shen JJ, Kurotaki N, Patel A, Lupski JR, Brown CW. Shen JJ, et al. Among authors: patel a. Pediatr Blood Cancer. 2005 Feb;44(2):187-9. doi: 10.1002/pbc.20177. Pediatr Blood Cancer. 2005. PMID: 15390361
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: patel a. 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
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR. Probst FJ, et al. Among authors: patel a. Orphanet J Rare Dis. 2015 Jun 14;10:75. doi: 10.1186/s13023-015-0291-0. Orphanet J Rare Dis. 2015. PMID: 26070612 Free PMC article.
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Ben-Shachar S, et al. Among authors: patel a. J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15. J Med Genet. 2009. PMID: 19289393 Free PMC article.
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. Yan J, et al. Among authors: patel a. J Med Genet. 2009 Sep;46(9):626-34. doi: 10.1136/jmg.2008.062471. Epub 2008 Dec 3. J Med Genet. 2009. PMID: 19052029 Free PMC article.
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. Yatsenko SA, et al. Among authors: patel a. J Med Genet. 2005 Apr;42(4):328-35. doi: 10.1136/jmg.2004.028258. J Med Genet. 2005. PMID: 15805160 Free PMC article. No abstract available.
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