FRAXF in a patient with chromosome 8 duplication.

Author:

Vianna-Morgante A M,Mingroni-Netto R C,Barbosa A C,Otto P A,Rosenberg C

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Instability of a 550 bp DNA segment and abnormal methylation in fragile X syndrome;Oberle, I.; Rousseau, F.; Heitz, D.;Science,1991

2. Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome;Verkerk, A.J.M.H.; Pieretti, M.; Sutcliffe, J.S.;Cell,1991

3. The fragile X genotype characterized by an unstable region of DNA;Yu, S.; Pritchard, M.; Kremer, E.;Science,1991

4. Molecular heterogeneity of the fragile X syndrome;Nakahori, Y.; Knight, S.J.L.; Holland, J.;Nucleic Acids Res,1991

5. Study of a family with a fragile site of the X chromosome at Xq2728 without mental retardation;Voeckel, M.A.; Piquet, P.N.; Pelissier, M.C.;Hum Genet,1989

Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites;Advances in Experimental Medicine and Biology;2017

2. A de novo 8q22.2-24.3 duplication in a patient with mild phenotype;European Journal of Medical Genetics;2012-01

3. Human chromosome fragility;Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms;2008-01

4. The neuroanatomy and neuroendocrinology of fragile X syndrome;Mental Retardation and Developmental Disabilities Research Reviews;2004

5. A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation;European Journal of Human Genetics;2002-10-29

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