Literature DB >> 8844084

FRAXA premutation associated with premature ovarian failure.

A M Vianna-Morgante1, S S Costa, A S Pares, I T Verreschi.   

Abstract

A family is described in which six females in three generations experienced premature ovarian failure (POF). In three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, because her son had the fragile X syndrome. These findings provide further evidence for a nonrandom association between POF and the FRAXA premutation.

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Year:  1996        PMID： 8844084     DOI： 10.1002/(SICI)1096-8628(19960809)64:2<373::AID-AJMG28>3.0.CO;2-B

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


  8 in total

1.  Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X.

Authors:  A M Vianna-Morgante; S S Costa
Journal:  Am J Hum Genet       Date:  2000-07       Impact factor: 11.025

2.  Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency.

Authors:  Gloria E Hoffman; Wei Wei Le; Ali Entezam; Noriyuki Otsuka; Zhi-Bin Tong; Lawrence Nelson; Jodi A Flaws; John H McDonald; Sanjeeda Jafar; Karen Usdin
Journal:  J Histochem Cytochem       Date:  2012-04-02       Impact factor: 2.479

3.  Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

Authors:  D J Allingham-Hawkins; R Babul-Hirji; D Chitayat; J J Holden; K T Yang; C Lee; R Hudson; H Gorwill; S L Nolin; A Glicksman; E C Jenkins; W T Brown; P N Howard-Peebles; C Becchi; E Cummings; L Fallon; S Seitz; S H Black; A M Vianna-Morgante; S S Costa; P A Otto; R C Mingroni-Netto; A Murray; J Webb; F Vieri
Journal:  Am J Med Genet       Date:  1999-04-02

4.  Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.

Authors:  N McIntosh; L W Gane; A McConkie-Rosell; R L Bennett
Journal:  J Genet Couns       Date:  2000-08       Impact factor: 2.537

5.  Fragile X premutations are not a major cause of early menopause.

Authors:  A Kenneson; D W Cramer; S T Warren
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

6.  Somatic expansion in mouse and human carriers of fragile X premutation alleles.

Authors:  Rachel Adihe Lokanga; Ali Entezam; Daman Kumari; Dmitry Yudkin; Mei Qin; Carolyn Beebe Smith; Karen Usdin
Journal:  Hum Mutat       Date:  2012-10-04       Impact factor: 4.878

7.  The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter.

Authors:  Daman Kumari; Andrei Gabrielian; David Wheeler; Karen Usdin
Journal:  Biochem J       Date:  2005-03-01       Impact factor: 3.857

8.  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
  8 in total

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