相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
Sarah L. Nolin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Clinical implication of FMR1 intermediate alleles in a Spanish population
M. I. Alvarez-Mora et al.
CLINICAL GENETICS (2018)
Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers
Noam Domniz et al.
FRONTIERS IN GENETICS (2018)
Fragile X-Associated Neuropsychiatric Disorders (FXAND)
Randi J. Hagerman et al.
FRONTIERS IN PSYCHIATRY (2018)
Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study
Sonia Merino et al.
GENES (2016)
Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers
Sarah L. Nolin et al.
GENETICS IN MEDICINE (2015)
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
Carolyn M. Yrigollen et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2014)
Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families-Performed in 12 Clinical Laboratories in Spain
Maria-Isabel Tejada et al.
BIOMED RESEARCH INTERNATIONAL (2014)
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles
Sarah L. Nolin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
Carolyn M. Yrigollen et al.
GENETICS IN MEDICINE (2012)
Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes
Irene Madrigal et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
FMR1 and the Continuum of Primary Ovarian Insufficiency
Shannon D. Sullivan et al.
SEMINARS IN REPRODUCTIVE MEDICINE (2011)
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
Laia Rodriguez-Revenga et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations
Isabel Fernandez-Carvajal et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests
Michal Berkenstadt et al.
PRENATAL DIAGNOSIS (2007)
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
J. S. Adams et al.
NEUROLOGY (2007)
The FMR1 premutation and reproduction
Michael D. Wittenberger et al.
FERTILITY AND STERILITY (2007)
Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory
Charles M. Strom et al.
GENETICS IN MEDICINE (2007)
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
S Jacquemont et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
SL Nolin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population:: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
C Dombrowski et al.
HUMAN MOLECULAR GENETICS (2002)
FMR1 and the fragile X syndrome:: Human genome epidemiology review
DC Crawford et al.
GENETICS IN MEDICINE (2001)