Literature DB >> 1302018

Fragile X founder effect?

A Chakravarti.   

Abstract

Entities:  

Mesh:

Year:  1992        PMID: 1302018     DOI: 10.1038/ng0792-237

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  13 in total

1.  FMR1 haplotype analyses among Indians: a weak founder effect and other findings.

Authors:  Deepti Sharma; Meena Gupta; B K Thelma
Journal:  Hum Genet       Date:  2002-12-14       Impact factor: 4.132

2.  Instability versus predictability: the molecular diagnosis of myotonic dystrophy.

Authors:  G K Suthers; S M Huson; K E Davies
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

3.  FMR1 in global populations.

Authors:  C B Kunst; C Zerylnick; L Karickhoff; E Eichler; J Bullard; M Chalifoux; J J Holden; A Torroni; D L Nelson; S T Warren
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

4.  Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.

Authors:  T C Falik-Zaccai; E Shachak; M Yalon; Z Lis; Z Borochowitz; J N Macpherson; D L Nelson; E E Eichler
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

5.  Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.

Authors:  Emmanuel K Peprah; Emily G Allen; Scott M Williams; Laresa M Woodard; Stephanie L Sherman
Journal:  Ann Hum Genet       Date:  2010-07       Impact factor: 1.670

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.  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

8.  Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

Authors:  D G Bichet; M Birnbaumer; M Lonergan; M F Arthus; W Rosenthal; P Goodyer; H Nivet; S Benoit; P Giampietro; S Simonetti
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

9.  Founder effect in a Belgian-Dutch fragile X population.

Authors:  S Buyle; E Reyniers; L Vits; K De Boulle; I Handig; F L Wuyts; W Deelen; D J Halley; B A Oostra; P J Willems
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

10.  Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.

Authors:  C Oudet; E Mornet; J L Serre; F Thomas; S Lentes-Zengerling; C Kretz; C Deluchat; I Tejada; J Boué; A Boué
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.