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Page 1
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: fang p. 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.
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: fang p. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.
Brown CW, Levy ML, Flaitz CM, Reid BS, Manolidis S, Hebert AA, Bender MM, Heilstedt HA, Plunkett KS, Fang P, Roa BB, Chung P, Tang HY, Richard G, Alford RL. Brown CW, et al. Among authors: fang p. J Invest Dermatol. 2003 Nov;121(5):1221-3. doi: 10.1046/j.1523-1747.2003.12550_4.x. J Invest Dermatol. 2003. PMID: 14708631 Free article. No abstract available.
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: fang p. 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.
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Matsuura T, et al. Among authors: fang p. Am J Hum Genet. 2004 Jun;74(6):1216-24. doi: 10.1086/421526. Epub 2004 May 4. Am J Hum Genet. 2004. PMID: 15127363 Free PMC article.
1,708 results