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Literature DB >> 18413371

The fragile X prevalence paradox.

Paul J Hagerman¹.

Abstract

Mesh：

Substances：

Year: 2008 PMID： 18413371 PMCID： PMC2728763 DOI： 10.1136/jmg.2008.059055

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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13 in total

1. Screening for fragile X syndrome in women of reproductive age.

Authors: R Pesso; M Berkenstadt; H Cuckle; E Gak; L Peleg; M Frydman; G Barkai
Journal: Prenat Diagn Date: 2000-08 Impact factor: 3.050

Review 2. Screening for fragile X syndrome: a literature review and modelling study.

Authors: F J Song; P Barton; V Sleightholme; G L Yao; A Fry-Smith
Journal: Health Technol Assess Date: 2003 Impact factor: 4.014

3. Size bias of fragile X premutation alleles in late-onset movement disorders.

Authors: Sebastien Jacquemont; Maureen A Leehey; Randi J Hagerman; Laurel A Beckett; Paul J Hagerman
Journal: J Med Genet Date: 2006-05-24 Impact factor: 6.318

4. Mental status of females with an FMR1 gene full mutation.

Authors: B B de Vries; A M Wiegers; A P Smits; S Mohkamsing; H J Duivenvoorden; J P Fryns; L M Curfs; D J Halley; B A Oostra; A M van den Ouweland; M F Niermeijer
Journal: Am J Hum Genet Date: 1996-05 Impact factor: 11.025

5. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles.

Authors: C Dombrowski; S Lévesque; M L Morel; P Rouillard; K Morgan; F Rousseau
Journal: Hum Mol Genet Date: 2002-02-15 Impact factor: 6.150

6. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

Authors: H Toledano-Alhadef; L Basel-Vanagaite; N Magal; B Davidov; S Ehrlich; V Drasinover; E Taub; G J Halpern; N Ginott; M Shohat
Journal: Am J Hum Genet Date: 2001-07-06 Impact factor: 11.025

Review 7. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration.

Authors: Randi J Hagerman
Journal: J Dev Behav Pediatr Date: 2006-02 Impact factor: 2.225

8. Prevalence of the fragile X syndrome in African-Americans.

Authors: Dana C Crawford; Kellen L Meadows; James L Newman; Lisa F Taft; Elizabeth Scott; Mary Leslie; Lisa Shubek; Patricia Holmgreen; Marshalyn Yeargin-Allsopp; Coleen Boyle; Stephanie L Sherman
Journal: Am J Med Genet Date: 2002-07-01

9. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Authors: Sarah L Nolin; W Ted Brown; Anne Glicksman; George E Houck; Alice D Gargano; Amy Sullivan; Valérie Biancalana; Karen Bröndum-Nielsen; Helle Hjalgrim; Elke Holinski-Feder; Frank Kooy; John Longshore; James Macpherson; Jean-Louis Mandel; Gert Matthijs; Francois Rousseau; Peter Steinbach; Marja-Leena Väisänen; Harriet von Koskull; Stephanie L Sherman
Journal: Am J Hum Genet Date: 2003-01-14 Impact factor: 11.025

10. Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

Authors: F Rousseau; P Rouillard; M L Morel; E W Khandjian; K Morgan
Journal: Am J Hum Genet Date: 1995-11 Impact factor: 11.025

168 in total

1. 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

2. 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

3. Signaling defects in iPSC-derived fragile X premutation neurons.

Authors: Jing Liu; Katarzyna A Koscielska; Zhengyu Cao; Susan Hulsizer; Natalie Grace; Gaela Mitchell; Catherine Nacey; Jackline Githinji; Jeannine McGee; Dolores Garcia-Arocena; Randi J Hagerman; Jan Nolta; Isaac N Pessah; Paul J Hagerman
Journal: Hum Mol Genet Date: 2012-05-28 Impact factor: 6.150

Review 4. Fragile X: leading the way for targeted treatments in autism.

Authors: Lulu W Wang; Elizabeth Berry-Kravis; Randi J Hagerman
Journal: Neurotherapeutics Date: 2010-07 Impact factor: 7.620

5. Pharmacological reversal of synaptic plasticity deficits in the mouse model of fragile X syndrome by group II mGluR antagonist or lithium treatment.

Authors: Catherine H Choi; Brian P Schoenfeld; Aaron J Bell; Paul Hinchey; Maria Kollaros; Michael J Gertner; Newton H Woo; Michael R Tranfaglia; Mark F Bear; R Suzanne Zukin; Thomas V McDonald; Thomas A Jongens; Sean M J McBride
Journal: Brain Res Date: 2010-11-12 Impact factor: 3.252

6. "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.

Authors: Alison D Archibald; Chriselle L Hickerton; Samantha A Wake; Alice M Jaques; Jonathan Cohen; Sylvia A Metcalfe
Journal: J Community Genet Date: 2016-02-03