Literature DB >> 7943006

Obstetrical and gynecological complications in fragile X carriers: a multicenter study.

C E Schwartz1, J Dean, P N Howard-Peebles, M Bugge, M Mikkelsen, N Tommerup, C Hull, R Hagerman, J J Holden, R E Stevenson.   

Abstract

We have conducted a multicenter obstetrical and gynecological survey of women in fragile X families. Included in the study were 131 gene carriers (39 with a full mutation and 92 with a premutation) and 109 noncarriers. Analysis indicated that higher numbers of fragile X gene carriers reported having irregular menses and other gynecological complications. As a group they also experienced cessation of menses prior to age 40 years at a significantly higher rate. The data appear to indicate that the FMR1 gene may play a role in the development and proliferation of oogonia.

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Year:  1994        PMID: 7943006     DOI: 10.1002/ajmg.1320510419

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


  41 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.  Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?

Authors:  S L Sherman
Journal:  Am J Hum Genet       Date:  2000-06-12       Impact factor: 11.025

3.  FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.

Authors:  Lorena Santa María; Solange Aliaga; Víctor Faundes; Paulina Morales; Ángela Pugin; Bianca Curotto; Paula Soto; M Ignacia Peña; Isabel Salas; M Angélica Alliende
Journal:  Genet Res (Camb)       Date:  2016-06-28       Impact factor: 1.588

4.  Studies of FRAXA and FRAXE in women with premature ovarian failure.

Authors:  A Murray; J Webb; S Grimley; G Conway; P Jacobs
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

5.  Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.

Authors:  Lillian M Zwemer; Sarah L Nolin; Patricia M Okamoto; Marcia Eisenberg; Heather C Wick; Diana W Bianchi
Journal:  Prenat Diagn       Date:  2016-10-25       Impact factor: 3.050

6.  Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.

Authors:  Allyn McConkie-Rosell; Brenda Finucane; Amy Cronister; Liane Abrams; Robin L Bennett; Barbara J Pettersen
Journal:  J Genet Couns       Date:  2005-08       Impact factor: 2.537

7.  Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.

Authors:  Emily Graves Allen; Jessica E Hunter; Michele Rusin; Jorge Juncos; Gloria Novak; Debra Hamilton; Lisa Shubeck; Krista Charen; Stephanie L Sherman
Journal:  Neuropsychology       Date:  2011-05       Impact factor: 3.295

8.  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

9.  CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.

Authors:  Anna Lisa Ludwig; Glenda M Espinal; Dalyir I Pretto; Amanda L Jamal; Gloria Arque; Flora Tassone; Robert F Berman; Paul J Hagerman
Journal:  Hum Mol Genet       Date:  2014-01-23       Impact factor: 6.150

10.  Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.

Authors:  D C Crawford; K L Meadows; J L Newman; L F Taft; D L Pettay; L B Gold; S J Hersey; E F Hinkle; M L Stanfield; P Holmgreen; M Yeargin-Allsopp; C Boyle; S L Sherman
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

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