Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Prevalence of CGG expansions of the FMR1 gene in a US population-based sample

(2012) Marsha Mailick Seltzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses

(2011) Liangjing Chen et al.   GENETICS IN MEDICINE

Reversing the Effects of Fragile X Syndrome

(2011) Marilee P. Ogren et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Fragile X analysis of 1112 prenatal samples from 1991 to 2010

(2011) Sarah L. Nolin et al.   PRENATAL DIAGNOSIS

Co-occurring diagnoses amongFMR1premutation allele carriers

(2010) JE Hunter et al.   CLINICAL GENETICS

A systematic review of population screening for fragile X syndrome

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

Advances in understanding the molecular basis of FXTAS

(2010) D. Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

PGD for fragile X syndrome: ovarian function is the main determinant of success

(2010) A. Tsafrir et al.   HUMAN REPRODUCTION

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

(2010) C. E. Bennett et al.   HUMAN REPRODUCTION

A Simple, High-Throughput Assay for Fragile X Expanded Alleles Using Triple Repeat Primed PCR and Capillary Electrophoresis

(2010) Elaine Lyon et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis

(2010) Liangjing Chen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Prevalence and Instability of Fragile X Alleles

(2010) Amy Cronister et al.   OBSTETRICS AND GYNECOLOGY

Committee Opinion No. 469: Carrier Screening for Fragile X Syndrome

(2010)   OBSTETRICS AND GYNECOLOGY

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

Screening and instability ofFMR1alleles in a prospective sample of 24,449 mother–newborn pairs from the general population

(2009) S Lévesque et al.   CLINICAL GENETICS

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

Expanded clinical phenotype of women with theFMR1 premutation

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

Advances in the Treatment of Fragile X Syndrome

(2008) R. J. Hagerman et al.   PEDIATRICS