Das S - Search Results

1

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S. Guerrini R, et al. Among authors: das s. Ann Neurol. 2003 Jul;54(1):30-7. doi: 10.1002/ana.10588. Ann Neurol. 2003. PMID: 12838518

2

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R. Sicca F, et al. Among authors: das s. Neurology. 2003 Oct 28;61(8):1042-6. doi: 10.1212/wnl.61.8.1042. Neurology. 2003. PMID: 14581661

3

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E. D'Agostino MD, et al. Among authors: das s. Brain. 2002 Nov;125(Pt 11):2507-22. doi: 10.1093/brain/awf248. Brain. 2002. PMID: 12390976

4

Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.

Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S. Demelas L, et al. Among authors: das s. Neurology. 2001 Jul 24;57(2):327-30. doi: 10.1212/wnl.57.2.327. Neurology. 2001. PMID: 11468322

5

Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.

Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, Dobyns WB. Poolos NP, et al. Among authors: das s. Neurology. 2002 May 28;58(10):1559-62. doi: 10.1212/wnl.58.10.1559. Neurology. 2002. PMID: 12034802

6

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Guerrini R, et al. Among authors: das s. Neurology. 2007 Jul 31;69(5):427-33. doi: 10.1212/01.wnl.0000266594.16202.c1. Neurology. 2007. PMID: 17664401

7

A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.

Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM. Mineyko A, et al. Among authors: das s. J Child Neurol. 2010 Jun;25(6):738-41. doi: 10.1177/0883073809343312. Epub 2009 Oct 6. J Child Neurol. 2010. PMID: 19808989

8

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

9

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.

10

Polyalanine expansion of ARX associated with cryptogenic West syndrome.

Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB. Kato M, et al. Among authors: das s. Neurology. 2003 Jul 22;61(2):267-76. doi: 10.1212/01.wnl.0000068012.69928.92. Neurology. 2003. PMID: 12874418 No abstract available.

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