Literature DB >> 16207218

Expansion of an intermediate allele of the FMR1 gene in only two generations.

A Zuñiga, J Juan, M Mila, A Guerrero.   

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Year:  2005        PMID： 16207218     DOI： 10.1111/j.1399-0004.2005.00514.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  13 in total

1.  Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.

Authors:  Deborah Hall; Flora Tassone; Olga Klepitskaya; Maureen Leehey
Journal:  Mov Disord       Date:  2011-12-11       Impact factor: 10.338

Review 2.  The impact of FMR1 gene mutations on human reproduction and development: a systematic review.

Authors:  Vincenzo Noto; Conor Harrity; David Walsh; Kevin Marron
Journal:  J Assist Reprod Genet       Date:  2016-07-18       Impact factor: 3.412

3.  Expansion of an FMR1 grey-zone allele to a full mutation in two generations.

Authors:  Isabel Fernandez-Carvajal; Blanca Lopez Posadas; Ruiqin Pan; Christopher Raske; Paul J Hagerman; Flora Tassone
Journal:  J Mol Diagn       Date:  2009-06-12       Impact factor: 5.568

4.  Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

Authors:  Irene Madrigal; Mar Xunclà; Maria Isabel Tejada; Francisco Martínez; Isabel Fernández-Carvajal; Luís Alberto Pérez-Jurado; Laia Rodriguez-Revenga; Montserrat Milà
Journal:  Eur J Hum Genet       Date:  2011-03-23       Impact factor: 4.246

5.  Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Authors:  Sebastien Jacquemont; Stefanie Birnbaum; Silke Redler; Peter Steinbach; Valérie Biancalana
Journal:  Eur J Hum Genet       Date:  2011-05-04       Impact factor: 4.246

6.  Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

Authors:  Atefeh Entezari; Mahmoud Shekari Khaniani; Tayyeb Bahrami; Sima Mansoori Derakhshan; Hossein Darvish
Journal:  Neurol Sci       Date:  2016-10-01       Impact factor: 3.307

7.  Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve.

Authors:  Lisa M Pastore; Steven L Young; Valerie L Baker; Logan B Karns; Christopher D Williams; Lawrence M Silverman
Journal:  Reprod Sci       Date:  2012-05-10       Impact factor: 3.060

8.  Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.

Authors:  Deborah A Hall; Joan A O'keefe
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2012-05-11

9.  Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

Authors:  María-Isabel Tejada; Guillermo Glover; Francisco Martínez; Miriam Guitart; Yolanda de Diego-Otero; Isabel Fernández-Carvajal; Feliciano J Ramos; Concepción Hernández-Chico; Elizabet Pintado; Jordi Rosell; María-Teresa Calvo; Carmen Ayuso; María-Antonia Ramos-Arroyo; Hiart Maortua; Montserrat Milà
Journal:  Biomed Res Int       Date:  2014-05-28       Impact factor: 3.411

10.  In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?

Authors:  Deborah A Hall
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2014-06-05
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