Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation-Reference-Cited by-同舟云学术

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Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation

Published:2006-01-03 Issue:1-2 Volume:119 Page:162-168
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Mansouri Mahmoud Reza,Carlsson Birgit,Davey Edward,Nordenskjöld Agneta,Wester Tomas,Annerén Göran,Läckgren Göran,Dahl Niklas

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-0122-9.pdf

Reference46 articles.

1. Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN (2003) Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat 22:229–44

2. Baptista J, Prigmore E, Gribble SM, Jacobs PA, Carter NP, Crolla JA (2005) Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals. Eur J Hum Genet 13:1205–12

3. Bardoni B, Castets M, Huot ME, Schenck A, Adinolfi S, Corbin F, Pastore A, Khandjian EW, Mandel JL (2003) 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Hum Mol Genet 12:1689–98

4. Bartsch O, Kuhnle U, Wu LL, Schwinger E, Hinkel GK (1996) Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34. Am J Med Genet 65:218–21

5. Baskin LS (2000) Hypospadias and urethral development. J Urol 163:951–6

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