Literature DB >> 3545058

Fragile X syndrome: a unique mutation in man.

R L Nussbaum, D H Ledbetter.   

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Year:  1986        PMID： 3545058     DOI： 10.1146/annurev.ge.20.120186.000545

Source DB:  PubMed          Journal:  Annu Rev Genet        ISSN： 0066-4197            Impact factor:   16.830


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  29 in total

1.  Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).

Authors:  F Rousseau; A Vincent; S Rivella; D Heitz; C Triboli; E Maestrini; S T Warren; G K Suthers; P Goodfellow; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

2.  Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression.

Authors:  G Sandberg; M Schalling
Journal:  Nucleic Acids Res       Date:  1997-07-15       Impact factor: 16.971

3.  A single lymphocyte culture for fragile X induction and prometaphase chromosome analysis.

Authors:  M J Griffiths; M C Strachan
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

4.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

5.  Physical mapping of DXS134 close to the DXS52 locus.

Authors:  M V Bell; M N Patterson; H R Dorkins; K E Davies
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

6.  The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure.

Authors:  M Fry; L A Loeb
Journal:  Proc Natl Acad Sci U S A       Date:  1994-05-24       Impact factor: 11.205

7.  Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.

Authors:  J Tarleton; S Wong; D Heitz; C Schwartz
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

8.  Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

Authors:  A Poustka; A Dietrich; G Langenstein; D Toniolo; S T Warren; H Lehrach
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

9.  X inactivation of the FMR1 fragile X mental retardation gene.

Authors:  C U Kirchgessner; S T Warren; H F Willard
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

10.  Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes.

Authors:  M Wada; R D Little; F Abidi; G Porta; T Labella; T Cooper; G Della Valle; M D'Urso; D Schlessinger
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025
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