about
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesTechnical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee ofFragile X syndrome: the FMR1 CGG repeat distribution among world populationsUnstable mutations in the FMR1 gene and the phenotypesThe role of AGG interruptions in fragile X repeat expansions: a twenty-year perspectiveRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersThe FMR1 gene, infertility, and reproductive decision-making: a reviewStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersModeling Fragile X Syndrome Using Human Pluripotent Stem CellsLongitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.CpG and Non-CpG Methylation in Epigenetic Gene Regulation and Brain FunctionFragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.Maternal well-being and child behavior in families with fragile X syndromeFMR1 and the fragile X syndrome: human genome epidemiology reviewPrevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cellsDNA repair/replication transcripts are down regulated in patients with Fragile X Syndrome.AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats.The FMR1 gene and fragile X-associated tremor/ataxia syndrome.Carrier screening in preconception consultation in primary care.Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms.CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general populationPaternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.FMR1 CGG expansions: prevalence and sex ratios.AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.AGG interruptions in (CGG)(n) DNA repeat tracts modulate the structure and thermodynamics of non-B conformations in vitro.Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages.FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.Of Men and Mice: Modeling the Fragile X Syndrome.Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.
P2860
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P2860
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Familial transmission of the FMR1 CGG repeat.
@ast
Familial transmission of the FMR1 CGG repeat.
@en
type
label
Familial transmission of the FMR1 CGG repeat.
@ast
Familial transmission of the FMR1 CGG repeat.
@en
prefLabel
Familial transmission of the FMR1 CGG repeat.
@ast
Familial transmission of the FMR1 CGG repeat.
@en
P2093
P2860
P1476
Familial transmission of the FMR1 CGG repeat
@en
P2093
A E Ashley
A E Glicksman
E Feingold
S L Sherman
P2860
P304
P407
P577
1996-12-01T00:00:00Z