Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests.
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Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsFMR1 CGG Repeats: Reference Levels and Race-Ethnic Variation in Women With Normal Fertility (Study of Women's Health Across the Nation).Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene.Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.FMR1 CGG allele size and prevalence ascertained through newborn screening in the United StatesIntermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.The FMR1 gene and fragile X-associated tremor/ataxia syndrome.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 repeatsPrenatal Screening Using Maternal MarkersPrevalence of CGG expansions of the FMR1 gene in a US population-based sample.Carrier screening in preconception consultation in primary care.The clinical content of preconception care: genetics and genomics.Offering 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.A systematic review of population screening for fragile X syndrome.Genetic counseling services and training of genetic counselors in Israel: an overview.A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.Population screening for reproductive risk for single gene disorders in Australia: now and the future.The Israeli national population program of genetic carrier screening for reproductive purposes.Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.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 insufficiFragile X carrier screening in Korean women of reproductive age.Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.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.FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.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.Fragile X analysis of 1112 prenatal samples from 1991 to 2010.Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel
P2860
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P2860
Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Preconceptional and prenatal s ...... experience with 40,000 tests.
@en
Preconceptional and prenatal s ...... experience with 40,000 tests.
@nl
type
label
Preconceptional and prenatal s ...... experience with 40,000 tests.
@en
Preconceptional and prenatal s ...... experience with 40,000 tests.
@nl
prefLabel
Preconceptional and prenatal s ...... experience with 40,000 tests.
@en
Preconceptional and prenatal s ...... experience with 40,000 tests.
@nl
P2093
P356
P1433
P1476
Preconceptional and prenatal s ...... experience with 40,000 tests.
@en
P2093
Gad Barkai
Howard Cuckle
Leah Peleg
Liat Ries-Levavi
Michal Berkenstadt
P304
P356
10.1002/PD.1815
P577
2007-11-01T00:00:00Z