Literature DB >> 8826475

Prevalence of fragile X syndrome.

G Turner1, T Webb, S Wake, H Robinson.   

Abstract

The much-quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed ethnic population. A reexamination of the individuals from whom those data were derived using molecular diagnostic techniques demonstrates a more realistic figure of 1:4,000 males.

Entities:  

Mesh：

Year:  1996        PMID： 8826475     DOI： 10.1002/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G

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


  153 in total

1.  Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

Authors:  D C Crawford; C E Schwartz; K L Meadows; J L Newman; L F Taft; C Gunter; W T Brown; N J Carpenter; P N Howard-Peebles; K G Monaghan; S L Nolin; A L Reiss; G L Feldman; E M Rohlfs; S T Warren; S L Sherman
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

Review 2.  Investigation of children with "developmental delay".

Authors:  Louise Hartley; Alison Salt; Jon Dorling; Paul Gringras
Journal:  West J Med       Date:  2002-01

3.  Duty to re-contact: a study of families at risk for Fragile X.

Authors:  Lynn E Bernard; Barbara McGillivray; Margot I Van Allen; J M Friedman; Sylvie Langlois
Journal:  J Genet Couns       Date:  1999-02       Impact factor: 2.537

4.  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

Review 5.  MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction.

Authors:  Bin Xu; Pei-Ken Hsu; Maria Karayiorgou; Joseph A Gogos
Journal:  Neurobiol Dis       Date:  2012-03-03       Impact factor: 5.996

6.  Discrimination learning and attentional set formation in a mouse model of Fragile X.

Authors:  Kimberly S Casten; Annette C Gray; Rebecca D Burwell
Journal:  Behav Neurosci       Date:  2011-06       Impact factor: 1.912

Review 7.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

8.  Diagnosis of fragile X syndrome: a qualitative study of African American families.

Authors:  Jeannie Visootsak; Krista Charen; Julia Rohr; Emily Allen; Stephanie Sherman
Journal:  J Genet Couns       Date:  2011-12-02       Impact factor: 2.537

Review 9.  Epigenetics in nucleotide repeat expansion disorders.

Authors:  Fang He; Peter K Todd
Journal:  Semin Neurol       Date:  2012-01-21       Impact factor: 3.420

10.  Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.

Authors:  Tri Indah Winarni; Agustini Utari; Farmaditya E P Mundhofir; Tzuhan Tong; Blythe Durbin-Johnson; Sultana M H Faradz; Flora Tassone
Journal:  Genet Test Mol Biomarkers       Date:  2011-10-11
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.