Literature DB >> 10466426

Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain.

J M Millán, F Martínez, A Cadroy, J Gandía, M Casquero, M Beneyto, L Badía, F Prieto.   

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Year:  1999        PMID： 10466426     DOI： 10.1034/j.1399-0004.1999.560116.x

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


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  4 in total

1.  Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.

Authors:  Yasser Vega; Sergio Arias; Irene Paradisi
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

Review 2.  Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.

Authors:  Emmanuel Peprah
Journal:  Ann Hum Genet       Date:  2011-12-21       Impact factor: 1.670

Review 3.  FMR1 and the fragile X syndrome: human genome epidemiology review.

Authors:  D C Crawford; J M Acuña; S L Sherman
Journal:  Genet Med       Date:  2001 Sep-Oct       Impact factor: 8.822

4.  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
  4 in total

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