Literature DB >> 26141473

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

N McIntosh1, L W Gane, A McConkie-Rosell, R L Bennett.   

Abstract

The National Society of Genetic Counselors' (NSGC) recommendations for fragile X syndrome (FXS) genetic counseling are intended to assist health care professionals who provide genetic counseling for individuals and families in whom the diagnosis of FXS is strongly suspected or has been made. The recommendations are the opinions of genetic counselors with expertise in FXS counseling and are based on clinical experience, a review of pertinent English language medical articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a particular client.

Entities:  

Year:  2000        PMID: 26141473     DOI: 10.1023/A:1009454112907

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  83 in total

Review 1.  MZ female twins discordant for X-linked diseases: a review.

Authors:  G Tiberio
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1994

2.  The fragile X mental retardation protein is associated with ribosomes.

Authors:  E W Khandjian; F Corbin; S Woerly; F Rousseau
Journal:  Nat Genet       Date:  1996-01       Impact factor: 38.330

3.  Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Authors:  B C Hamel; A P Smits; E de Graaff; D F Smeets; F Schoute; B H Eussen; S J Knight; K E Davies; C F Assman-Hulsmans; B A Oostra
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

4.  Length of uninterrupted CGG repeats determines instability in the FMR1 gene.

Authors:  E E Eichler; J J Holden; B W Popovich; A L Reiss; K Snow; S N Thibodeau; C S Richards; P A Ward; D L Nelson
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

5.  Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.

Authors:  M L Uzielli; S Guarducci; E Lapi; A Cecconi; U Ricci; G Ricotti; C Biondi; B Scarselli; F Vieri; P Scarnato; F Gori; A Sereni
Journal:  Am J Med Genet       Date:  1999-05-28

6.  Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes.

Authors:  N Zhong; W Ju; J Pietrofesa; D Wang; C Dobkin; W T Brown
Journal:  Am J Med Genet       Date:  1996-08-09

7.  The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

Authors:  E Reyniers; L Vits; K De Boulle; B Van Roy; D Van Velzen; E de Graaff; A J Verkerk; H Z Jorens; J K Darby; B Oostra
Journal:  Nat Genet       Date:  1993-06       Impact factor: 38.330

8.  Rapid antibody test for fragile X syndrome.

Authors:  R Willemsen; S Mohkamsing; B de Vries; D Devys; A van den Ouweland; J L Mandel; H Galjaard; B Oostra
Journal:  Lancet       Date:  1995-05-06       Impact factor: 79.321

9.  Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

Authors:  C B Kunst; S T Warren
Journal:  Cell       Date:  1994-06-17       Impact factor: 41.582

10.  Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.

Authors:  A E Ashley; S L Sherman
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

View more
  5 in total

1.  Developing Standard Recommendations (Guidelines) for Genetic Counseling Practice: A Process of the National Society of Genetic Counselors.

Authors:  Robin L Bennett; Barbara J Pettersen; Kristin B Niendorf; Rebecca Rae Anderson
Journal:  J Genet Couns       Date:  2003-08       Impact factor: 2.537

2.  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

3.  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

4.  Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Authors:  Elinor Langfelder-Schwind; Edward Kloza; Elaine Sugarman; Barbara Pettersen; Trisha Brown; Kim Jensen; Seth Marcus; Joy Redman
Journal:  J Genet Couns       Date:  2005-02       Impact factor: 2.537

5.  Aging in individuals with the FMR1 mutation.

Authors:  S Jacquemont; F Farzin; D Hall; M Leehey; F Tassone; L Gane; L Zhang; J Grigsby; T Jardini; F Lewin; E Berry-Kravis; P J Hagerman; R J Hagerman
Journal:  Am J Ment Retard       Date:  2004-03
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.