Das S - Search Results

1

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. Liu J, et al. Among authors: das s. Hum Mutat. 2009 Nov;30(11):1535-42. doi: 10.1002/humu.21095. Hum Mutat. 2009. PMID: 19701948 Free PMC article.

2

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Among authors: das s. Hum Mutat. 2002 Jan;19(1):4-15. doi: 10.1002/humu.10028. Hum Mutat. 2002. PMID: 11754098 Review.

3

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Kato M, et al. Among authors: das s. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. Hum Mutat. 2004. PMID: 14722918

4

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.

5

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. Waggoner DJ, et al. Among authors: das s. Genet Med. 2005 Oct;7(8):524-33. doi: 10.1097/01.GIM.0000178503.15559.d3. Genet Med. 2005. PMID: 16247291 Free article.

6

Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.

Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ. Nowaczyk MJ, et al. Among authors: das s. Am J Med Genet A. 2008 Feb 1;146A(3):354-60. doi: 10.1002/ajmg.a.32144. Am J Med Genet A. 2008. PMID: 18203180

7

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.

Nolan DK, Chen P, Das S, Ober C, Waggoner D. Nolan DK, et al. Among authors: das s. Am J Med Genet A. 2008 Jun 1;146A(11):1414-22. doi: 10.1002/ajmg.a.32307. Am J Med Genet A. 2008. PMID: 18446860

8

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.

Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S. Haverfield EV, et al. Among authors: das s. Eur J Hum Genet. 2009 Jul;17(7):911-8. doi: 10.1038/ejhg.2008.213. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050731 Free PMC article.

9

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 …

10

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.

Dempsey MA, Knight Johnson AE, Swope BS, Moldenhauer JS, Sroka H, Chong K, Chitayat D, Briere L, Lyon H, Palmer N, Gopalani S, Siebert JR, Lévesque S, Leblanc J, Menzies D, Haverfield E, Das S. Dempsey MA, et al. Among authors: das s. Prenat Diagn. 2014 Feb;34(2):163-7. doi: 10.1002/pd.4279. Epub 2013 Dec 9. Prenat Diagn. 2014. PMID: 24218399

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