A systematic review of population screening for fragile X syndrome.
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Fragile X syndrome: the FMR1 CGG repeat distribution among world populationsDeveloping Medications Targeting Glutamatergic Dysfunction in Autism: Progress to DateStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersParents' decisions to screen newborns for FMR1 gene expansions in a pilot research project.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.A novel assay for evaluating fragile X locus repeatsA mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophyCaregiver opinions about fragile X population screening.Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making.Carrier screening in preconception consultation in primary care.Fragile X Syndrome: Scientific Background and Screening Technologies.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersDo the data really support ordering fragile X testing as a first-tier test without clinical features?"It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.Moving Toward Integrative, Multidimensional Research in Modern Psychiatry: Lessons Learned From Fragile X SyndromeOffering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general populationDevelopment of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for GovernmentsDistribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.Family Communication and Cascade Testing for Fragile X Syndrome.Assessing the Fragile X Syndrome Newborn Screening LandscapeFMR1 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 insufficiFragile X carrier screening in Korean women of reproductive age.FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably high FMR1 premutation prevalence in the Balearic Islands.Current controversies in prenatal diagnosis 1: screening for fragile X syndrome.ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study.Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR.Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel
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P2860
A systematic review of population screening for fragile X syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2010
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
A systematic review of population screening for fragile X syndrome.
@en
A systematic review of population screening for fragile X syndrome.
@nl
type
label
A systematic review of population screening for fragile X syndrome.
@en
A systematic review of population screening for fragile X syndrome.
@nl
prefLabel
A systematic review of population screening for fragile X syndrome.
@en
A systematic review of population screening for fragile X syndrome.
@nl
P2093
P2860
P1433
P1476
A systematic review of population screening for fragile X syndrome.
@en
P2093
Alison D Archibald
Jonathan Cohen
Melissa K Hill
Sylvia A Metcalfe
P2860
P2888
P304
P356
10.1097/GIM.0B013E3181E38FB6
P407
P577
2010-07-01T00:00:00Z
P6179
1015887104