Literature DB >> 7723547

Rapid antibody test for fragile X syndrome.

R Willemsen1, S Mohkamsing, B de Vries, D Devys, A van den Ouweland, J L Mandel, H Galjaard, B Oostra.   

Abstract

Fragile X syndrome is the most common known cause of inherited mental retardation. Identification of patients and carriers of fragile X syndrome is usually done with a DNA test system but we have developed a rapid antibody to identify fragile X patients. This non-invasive test requires only 1 or 2 drops of blood and can be used for screening large groups of mentally retarded people and neonates for fragile X syndrome.

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 7723547     DOI： 10.1016/s0140-6736(95)90979-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  41 in total

1.  Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.

Authors:  R Willemsen; F Los; S Mohkamsing; A van den Ouweland; W Deelen; H Galjaard; B Oostra
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

Authors:  B B de Vries; A M van den Ouweland; S Mohkamsing; H J Duivenvoorden; E Mol; K Gelsema; M van Rijn; D J Halley; L A Sandkuijl; B A Oostra; A Tibben; M F Niermeijer
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

3.  Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Authors:  F Tassone; R J Hagerman; A K Taylor; L W Gane; T E Godfrey; P J Hagerman
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

4.  Neuroanatomical abnormalities in fragile X syndrome during the adolescent and young adult years.

Authors:  Gisela M Sandoval; Sehoon Shim; David S Hong; Amy S Garrett; Eve-Marie Quintin; Matthew J Marzelli; Swetapadma Patnaik; Amy A Lightbody; Allan L Reiss
Journal:  J Psychiatr Res       Date:  2018-10-25       Impact factor: 4.791

5.  Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

Authors:  D Wöhrle; U Salat; D Gläser; J Mücke; M Meisel-Stosiek; D Schindler; W Vogel; P Steinbach
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

6.  What do we mean by genetic testing?

Authors:  P S Harper
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

Review 7.  Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

Authors:  B B de Vries; C C Jansen; A A Duits; C Verheij; R Willemsen; J O van Hemel; A M van den Ouweland; M F Niermeijer; B A Oostra; D J Halley
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

8.  FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

Authors:  David E Godler; Howard R Slater; Quang M Bui; Michele Ono; Freya Gehling; David Francis; David J Amor; John L Hopper; Randi Hagerman; Danuta Z Loesch
Journal:  J Mol Diagn       Date:  2011-06-30       Impact factor: 5.568

9.  Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism.

Authors:  Heather Cody Hazlett; Michele D Poe; Amy A Lightbody; Guido Gerig; James R Macfall; Allison K Ross; James Provenzale; Arianna Martin; Allan L Reiss; Joseph Piven
Journal:  J Neurodev Disord       Date:  2009-03       Impact factor: 4.025

10.  A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome.

Authors:  David Hessl; Danh V Nguyen; Cherie Green; Alyssa Chavez; Flora Tassone; Randi J Hagerman; Damla Senturk; Andrea Schneider; Amy Lightbody; Allan L Reiss; Scott Hall
Journal:  J Neurodev Disord       Date:  2009-03       Impact factor: 4.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.