Literature DB >> 23563977

At what rate do new premutation alleles arise at the fragile X locus?

Diane P Genereux, Charles D Laird.   

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Year:  2013        PMID： 23563977     DOI： 10.1007/s00439-013-1291-6

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  22 in total

1.  Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features.

Authors:  A Cronister; R Schreiner; M Wittenberger; K Amiri; K Harris; R J Hagerman
Journal:  Am J Med Genet       Date:  1991 Feb-Mar

2.  The fragile X prevalence paradox.

Authors:  Paul J Hagerman
Journal:  J Med Genet       Date:  2008-04-15       Impact factor: 6.318

3.  Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome.

Authors:  F Vogel; J Krüger; K B Nielsen; J P Fryns; D Schindler; A Schinzel; A Schmidt; E Schwinger
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  The marker (X) syndrome: a cytogenetic and genetic analysis.

Authors:  S L Sherman; N E Morton; P A Jacobs; G Turner
Journal:  Ann Hum Genet       Date:  1984-01       Impact factor: 1.670

5.  Length of uninterrupted CGG repeats determines instability in the FMR1 gene.

Authors:  E E Eichler; J J Holden; B W Popovich; A L Reiss; K Snow; S N Thibodeau; C S Richards; P A Ward; D L Nelson
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

6.  Population studies of the fragile X: a molecular approach.

Authors:  P A Jacobs; H Bullman; J Macpherson; S Youings; V Rooney; A Watson; N R Dennis
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

7.  Fragile X carrier screening and FMR1 allele distribution in the Japanese population.

Authors:  Susumu Otsuka; Yumiko Sakamoto; Haruhiko Siomi; Mituo Itakura; Kenji Yamamoto; Hideo Matumoto; Tsukasa Sasaki; Nobumasa Kato; Eiji Nanba
Journal:  Brain Dev       Date:  2009-02-10       Impact factor: 1.961

8.  Evidence of founder chromosomes in fragile X syndrome.

Authors:  R I Richards; K Holman; K Friend; E Kremer; D Hillen; A Staples; W T Brown; P Goonewardena; J Tarleton; C Schwartz
Journal:  Nat Genet       Date:  1992-07       Impact factor: 38.330

9.  Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.

Authors:  A E Ashley; S L Sherman
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

10.  Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.

Authors:  Amy Cronister; Jennifer Teicher; Elizabeth M Rohlfs; Alan Donnenfeld; Stephanie Hallam
Journal:  Obstet Gynecol       Date:  2008-03       Impact factor: 7.661
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