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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. del Gaudio D, et al. Among authors: roa bb. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.
Applied molecular genetic techniques for prenatal diagnosis.
Van den Veyver IB, Roa BB. Van den Veyver IB, et al. Among authors: roa bb. Curr Opin Obstet Gynecol. 1998 Apr;10(2):97-103. doi: 10.1097/00001703-199804000-00004. Curr Opin Obstet Gynecol. 1998. PMID: 9551303 Review.
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S, Oghalai JS, Roa BB, Alford RL. Tang HY, et al. Among authors: roa bb. Am J Med Genet A. 2006 Nov 15;140(22):2401-15. doi: 10.1002/ajmg.a.31525. Am J Med Genet A. 2006. PMID: 17041943 Free PMC article.
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Amir RE, et al. Among authors: roa bb. J Med Genet. 2005 Feb;42(2):e15. doi: 10.1136/jmg.2004.026161. J Med Genet. 2005. PMID: 15689438 Free PMC article. No abstract available.
Screening for 185delAG in the Ashkenazim.
Richards CS, Ward PA, Roa BB, Friedman LC, Boyd AA, Kuenzli G, Dunn JK, Plon SE. Richards CS, et al. Among authors: roa bb. Am J Hum Genet. 1997 May;60(5):1085-98. Am J Hum Genet. 1997. PMID: 9150156 Free PMC article.
81 results