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。The FRAXopathies: Definition, Overview, and Update
Filomena Pirozzi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
FMR1 Gray-Zone Alleles: Association with Parkinson's Disease in Women?
Deborah A. Hall et al.
MOVEMENT DISORDERS (2011)
Selective executive markers of at-risk profiles associated with the fragile X premutation
Kim M. Cornish et al.
NEUROLOGY (2011)
Fragile X carrier screening and FMR1 allele distribution in the Japanese population
Susumu Otsuka et al.
BRAIN & DEVELOPMENT (2010)
Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome
W. Chonchaiya et al.
CLINICAL GENETICS (2010)
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening
Feras M. Hantash et al.
GENETICS IN MEDICINE (2010)
A Simple, High-Throughput Assay for Fragile X Expanded Alleles Using Triple Repeat Primed PCR and Capillary Electrophoresis
Elaine Lyon et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2010)
Mood and Anxiety Disorders in Females With the FMR1 Premutation
Jane E. Roberts et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
Laia Rodriguez-Revenga et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population
Isabel Fernandez-Carvajal et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
No Evidence for a Difference in Neuropsychological Profile among Carriers and Noncarriers of the FMR1 Premutation in Adults under the Age of 50
Jessica Ezzell Hunter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Expanded clinical phenotype of women with the FMR1 premutation
Sarah M. Coffey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Co-occurring conditions associated with FMR1 gene variations:: Findings from a national parent survey
Donald B. Bailey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers
Jessica Ezzell Hunter et al.
BEHAVIOR GENETICS (2008)
Prevalence and instability of fragile X alleles - Implications for offering fragile X prenatal diagnosis
Amy Cronister et al.
OBSTETRICS AND GYNECOLOGY (2008)
Impact of the Fragile X Mental Retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia Syndrome:: A controlled study
Cary S. Kogan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2008)
Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests
Michal Berkenstadt et al.
PRENATAL DIAGNOSIS (2007)
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
Danuta Z. Loesch et al.
JOURNAL OF MEDICAL GENETICS (2007)
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)
Jim Grigsby et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
Quality and quantity of saliva DNA obtained from the self-administrated oragene method -: A pilot study on the cohort of Swedish men
Tove Rylander-Rudqvist et al.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION (2006)
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
KL Bretherick et al.
HUMAN GENETICS (2005)
Fragile X syndrome carrier screening in the prenatal genetic counseling setting
A Cronister et al.
GENETICS IN MEDICINE (2005)
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype
CC Tzeng et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Association of FMR1 repeat size with ovarian dysfunction
AK Sullivan et al.
HUMAN REPRODUCTION (2005)
Haplotype study of intermediate-length alleles at the fragile X (FMR1) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size FMR1 alleles
Y Curlis et al.
HUMAN BIOLOGY (2005)
FMR1 alleles in Tasmania: a screening study of the special educational needs population
RJ Mitchell et al.
CLINICAL GENETICS (2005)
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation
E Berry-Kravis et al.
ANNALS OF NEUROLOGY (2005)
Penetrance of the fragile X - Associated tremor/ataxia syndrome in a premutation carrier population
S Jacquemont et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)
A new insight into fragile X syndrome among Basque population
O Peñagarikano et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Incidence of Fragile X in 5,000 consecutive newborn males
M Rife et al.
GENETIC TESTING (2003)
The fragile X premutation: into the phenotypic fold
RJ Hagerman et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2002)
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)
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
H Toledano-Alhadef et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
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