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.
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Advances in understanding - genetic basis of intellectual disabilityFragile X syndrome as a rare disease in China - Therapeutic challenges and opportunitiesThe role of AGG interruptions in fragile X repeat expansions: a twenty-year perspectiveThe 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 DisordersIntermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.Standardization of capillary electrophoresis for diagnosis of fragile X syndrome in the Brazilian public health system.Fragile X Syndrome: Scientific Background and Screening Technologies.Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 genePre- and post-test genetic counseling for chromosomal and Mendelian disorders.Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.Recent advances in assays for the fragile X-related disorders.Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis.The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care.
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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.
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2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
@wuu
2013年学术文章
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2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
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2013年學術文章
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2013年學術文章
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name
ACMG Standards and Guidelines ...... Medical Genetics and Genomics.
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ACMG Standards and Guidelines ...... Medical Genetics and Genomics.
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type
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ACMG Standards and Guidelines ...... Medical Genetics and Genomics.
@en
ACMG Standards and Guidelines ...... Medical Genetics and Genomics.
@nl
prefLabel
ACMG Standards and Guidelines ...... Medical Genetics and Genomics.
@en
ACMG Standards and Guidelines ...... Medical Genetics and Genomics.
@nl
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ACMG Standards and Guidelines ...... Medical Genetics and Genomics.
@en
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Elaine B Spector
Elaine Lyon
Kristin G Monaghan
erican College of Medical Genetics and Genomics
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10.1038/GIM.2013.61
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P577
2013-06-13T00:00:00Z