Literature DB >> 10331589

Frequencies of "grey-zone" and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada.

P C Patsalis, C Sismani, J A Hettinger, J J Holden, J S Lawson, M Chalifoux, M Wing, M Walker, J Leggo.   

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Year:  1999        PMID： 10331589

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  10 in total

1.  The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.

Authors:  François Rousseau; Yves Labelle; Johanne Bussières; Carmen Lindsay
Journal:  Clin Biochem Rev       Date:  2011-08

2.  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

3.  Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

Authors:  Danuta Z Loesch; Quang M Bui; Richard M Huggins; Robert J Mitchell; Randi J Hagerman; Flora Tassone
Journal:  J Med Genet       Date:  2006-08-11       Impact factor: 6.318

4.  FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.

Authors:  Karla L Bretherick; Margo R Fluker; Wendy P Robinson
Journal:  Hum Genet       Date:  2005-06-02       Impact factor: 4.132

Review 5.  Unstable mutations in the FMR1 gene and the phenotypes.

Authors:  Danuta Loesch; Randi Hagerman
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

6.  Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.

Authors:  Sarah M Debrey; Maureen A Leehey; Olga Klepitskaya; Christopher M Filley; Raj C Shah; Benzi Kluger; Elizabeth Berry-Kravis; Elaine Spector; Flora Tassone; Deborah A Hall
Journal:  Cerebellum       Date:  2016-10       Impact factor: 3.847

7.  FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Authors:  Ana I Seixas; José Vale; Paula Jorge; Isabel Marques; Rosário Santos; Isabel Alonso; Ana M Fortuna; Jorge Pinto-Basto; Paula Coutinho; Russell L Margolis; Jorge Sequeiros; Isabel Silveira
Journal:  Behav Brain Funct       Date:  2011-06-03       Impact factor: 3.759

Review 8.  Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene.

Authors:  Maitane Barasoain; Gorka Barrenetxea; Iratxe Huerta; Mercedes Télez; Begoña Criado; Isabel Arrieta
Journal:  Genes (Basel)       Date:  2016-12-13       Impact factor: 4.096

9.  Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder.

Authors:  Areerat Hnoonual; Charunee Jankittunpaiboon; Pornprot Limprasert
Journal:  Biomed Res Int       Date:  2021-12-08       Impact factor: 3.411

10.  Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene.

Authors:  Eleonora Napoli; Yingratana Amabel McLennan; Andrea Schneider; Flora Tassone; Randi J Hagerman; Cecilia Giulivi
Journal:  Front Mol Biosci       Date:  2020-10-22
  10 in total

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