“It's about having the choice”: Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

(2010) Feras M Hantash et al.   GENETICS IN MEDICINE

A systematic review of population screening for fragile X syndrome

(2010) Melissa K Hill et al.   GENETICS IN MEDICINE

Can We Make Assumptions About the Psychosocial Impact of Living as a Carrier, Based on Studies Assessing the Effects of Carrier Testing?

(2010) Celine Lewis et al.   Journal of Genetic Counseling

“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non-pregnant women

(2009) Alison D. Archibald et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms

(2009) Danuta Z. Loesch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fragile X screening: Attitudes of genetic health professionals

(2009) Kruti Acharya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

(2009) DZ Loesch et al.   CLINICAL GENETICS

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

(2009) Laia Rodriguez-Revenga et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study

(2009) Sylvia Metcalfe et al.   GENETICS IN MEDICINE

Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population

(2009) Isabel Fernandez-Carvajal et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Expanded clinical phenotype of women with theFMR1 premutation

(2008) Sarah M. Coffey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A