EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

European Journal of Human Genetics

Volumn 23, Issue 4, 2015, Pages 417-425

  Biancalana, Valérie ^a   Glaeser, Dieter ^b   McQuaid, Shirley ^c   Steinbach, Peter ^d  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b Centre for Human Genetics   (Germany)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^d UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GENOMIC DNA; 5' UNTRANSLATED REGION; FMR1 PROTEIN, HUMAN; MESSENGER RNA;

5' UNTRANSLATED REGION; ALLELE; ARTICLE; CEREBELLAR ATAXIA; CHORION VILLUS; CPG ISLAND; DNA METHYLATION; EARLY MENOPAUSE; EXON; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; INHERITANCE; MICROSATELLITE INSTABILITY; MOLECULAR DIAGNOSIS; MOSAICISM; NULL ALLELE; OVARY INSUFFICIENCY; PENETRANCE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; QUALITY CONTROL; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING; TREMOR; X ASSOCIATED PRIMARY OVARIAN INSUFFICIENCY; X CHROMOSOME INACTIVATION; ATAXIA; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PRIMARY OVARIAN INSUFFICIENCY; STANDARDS;

5' UNTRANSLATED REGIONS; ALLELES; ATAXIA; DNA METHYLATION; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC TESTING; HUMANS; MALE; MUTATION; PHENOTYPE; PRACTICE GUIDELINES AS TOPIC; PRIMARY OVARIAN INSUFFICIENCY; PROMOTER REGIONS, GENETIC; RNA, MESSENGER; TREMOR;

EID: 84924713026     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.185     Document Type: Article

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