Das S - Search Results

1

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C. Çalışkan M, et al. Among authors: das s. Hum Mol Genet. 2011 Apr 1;20(7):1285-9. doi: 10.1093/hmg/ddq569. Epub 2011 Jan 6. Hum Mol Genet. 2011. PMID: 21212097 Free PMC article.

Previously, we reported a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous family [Nolan, D.K., Chen, P., Das, S., Ober, C. and Waggoner, D. (2008) Fine mapping of a locus for nonsyndromic mental retardation on chromoso …

Previously, we reported a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous family [Nolan, D.K …

2

Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer.

Gao Q, Tomlinson G, Das S, Cummings S, Sveen L, Fackenthal J, Schumm P, Olopade OI. Gao Q, et al. Among authors: das s. Hum Genet. 2000 Aug;107(2):186-91. doi: 10.1007/s004390000290. Hum Genet. 2000. PMID: 11030417

3

Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer.

Gao Q, Adebamowo CA, Fackenthal J, Das S, Sveen L, Falusi AG, Olopade OI. Gao Q, et al. Among authors: das s. Hum Genet. 2000 Aug;107(2):192-4. doi: 10.1007/s004390000342. Hum Genet. 2000. PMID: 11030418 No abstract available.

4

Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.

Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE. Das S, et al. Am J Hum Genet. 2000 Dec;67(6):1586-91. doi: 10.1086/316897. Epub 2000 Oct 18. Am J Hum Genet. 2000. PMID: 11038325 Free PMC article.

5

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Among authors: das s. Hum Mol Genet. 2000 Dec 12;9(20):3019-28. doi: 10.1093/hmg/9.20.3019. Hum Mol Genet. 2000. PMID: 11115846

6

Interethnic difference in the allelic distribution of human epidermal growth factor receptor intron 1 polymorphism.

Liu W, Innocenti F, Chen P, Das S, Cook EH Jr, Ratain MJ. Liu W, et al. Among authors: das s. Clin Cancer Res. 2003 Mar;9(3):1009-12. Clin Cancer Res. 2003. PMID: 12631599

7

Characterization of multiple promoters in the human carboxylesterase 2 gene.

Wu MH, Chen P, Remo BF, Cook EH Jr, Das S, Dolan ME. Wu MH, et al. Among authors: das s. Pharmacogenetics. 2003 Jul;13(7):425-35. doi: 10.1097/00008571-200307000-00008. Pharmacogenetics. 2003. PMID: 12835618

8

Determination and analysis of single nucleotide polymorphisms and haplotype structure of the human carboxylesterase 2 gene.

Wu MH, Chen P, Wu X, Liu W, Strom S, Das S, Cook EH Jr, Rosner GL, Dolan ME. Wu MH, et al. Among authors: das s. Pharmacogenetics. 2004 Sep;14(9):595-605. doi: 10.1097/00008571-200409000-00004. Pharmacogenetics. 2004. PMID: 15475733

9

Haplotypes of variants in the UDP-glucuronosyltransferase1A9 and 1A1 genes.

Innocenti F, Liu W, Chen P, Desai AA, Das S, Ratain MJ. Innocenti F, et al. Among authors: das s. Pharmacogenet Genomics. 2005 May;15(5):295-301. doi: 10.1097/01213011-200505000-00004. Pharmacogenet Genomics. 2005. PMID: 15864130

10

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: das s. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. Am J Hum Genet. 2005. PMID: 15942875 Free PMC article.

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