Clinical utility gene card for: Silver-Russell syndrome

European Journal of Human Genetics

Volumn 19, Issue 3, 2011, Pages

  Eggermann, Thomas ^a   Buiting, Karin ^b   Temple, I Karen ^c  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CHROMOSOME 11P; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL ASSESSMENT TOOL; CLINICAL UTILITY GENE CARD; DIFFERENTIAL DIAGNOSIS; DISEASE PREDISPOSITION; FAMILIAL DISEASE; FAMILY HISTORY; GENE REARRANGEMENT; GENETIC RISK; GENETIC SCREENING; GENOTYPE; INTRAUTERINE GROWTH RETARDATION; MULIBREY NANISM; MUTATIONAL ANALYSIS; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SILVER RUSSELL SYNDROME; TRISOMY 7; GENETICS; HUMAN; MUTATION;

GENETIC TESTING; HUMANS; MUTATION; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; SILVER-RUSSELL SYNDROME;

EID: 79951814392     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.202     Document Type: Article

References (3)

1. Eggermann T, Eggermann K, Schönherr N: Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet 2008; 24: 195-204.
2. Turner CL, Mackay DM, Callaway JL et al: Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet 2010; 18: 648-655.
3. Azzi S, Rossignol S, Steunou V et al: Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 2009; 18: 4724-4733.