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The multiple molecular facets of fragile X-associated tremor/ataxia syndromeMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersAdvanced technologies for the molecular diagnosis of fragile X syndromeDistribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study).FMR1 CGG Repeats: Reference Levels and Race-Ethnic Variation in Women With Normal Fertility (Study of Women's Health Across the Nation).Differential increases of specific FMR1 mRNA isoforms in premutation carriersCNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowthAssociated features in females with an FMR1 premutationLow-normal FMR1 CGG repeat length: phenotypic associations.Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan.Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.Fragile X Syndrome: Scientific Background and Screening Technologies.Identification of a male with fragile X syndrome through newborn screeningSimplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.Developmental profiles of infants with an FMR1 premutation.Executive Functioning Mediates the Effect of Behavioral Problems on Depression in Mothers of Children With Developmental Disabilities.The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).Newborn screening for fragile X syndrome.Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.
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description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 05 June 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
FMR1 CGG expansions: prevalence and sex ratios.
@en
FMR1 CGG expansions: prevalence and sex ratios.
@nl
type
label
FMR1 CGG expansions: prevalence and sex ratios.
@en
FMR1 CGG expansions: prevalence and sex ratios.
@nl
prefLabel
FMR1 CGG expansions: prevalence and sex ratios.
@en
FMR1 CGG expansions: prevalence and sex ratios.
@nl
P2093
P2860
P50
P356
P1476
FMR1 CGG expansions: prevalence and sex ratios.
@en
P2093
Elizabeth McPherson
Janel K Barnes
Jinkuk Hong
Marsha R Mailick
Matthew J Maenner
Mei W Baker
Murray H Brilliant
P2860
P304
P356
10.1002/AJMG.B.32176
P577
2013-06-05T00:00:00Z