EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

European Journal of Human Genetics

Volumn 24, Issue 10, 2016, Pages 1377-1387

  Eggermann, Katja ^a   Bliek, Jet ^b   Brioude, Frédéric ^c,d,e   Algar, Elizabeth ^f   Buiting, Karin ^g   Russo, Silvia ^h   Tümer, Zeynep ⁱ   Monk, David ^j   Moore, Gudrun ^k   Antoniadi, Thalia ^l   MacDonald, Fiona ^l   Netchine, Irène ^c,d,e   Lombardi, Paolo ^b   Soellner, Lukas ^a   Begemann, Matthias ^a   Prawitt, DIrk ^m   Maher, Eamonn R ⁿ   Mannens, Marcel ^b   Riccio, Andrea ^o,p   Weksberg, Rosanna ^q,r,s   Lapunzina, Pablo ^t   Grønskov, Karen ⁱ   MacKay, Deborah Jg ^u,v   Eggermann, Thomas ^a   more..

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f SOUTHERN HEALTH   (Australia)

^g UNIVERSITY OF DUISBURG ESSEN   (Germany)

^h ISTITUTO AUXOLOGICO ITALIANO   (Italy)

ⁱ Mental Health Services CPH   (Denmark)

^j BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

^l BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^m UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

ⁿ UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^o SECOND UNIVERSITY OF NAPLES   (Italy)

^p INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^q HOSPITAL FOR SICK CHILDREN   (Canada)

^r UNIVERSITY OF TORONTO   (Canada)

^s UNIVERSITY OF TORONTO   (Canada)

^t INSTITUTO DE SALUD CARLOS III   (Spain)

^u UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^v PRINCESS ANNE HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; SOMATOMEDIN B;

BECKWITH WIEDEMANN SYNDROME; CHROMOSOME; CHROMOSOME 11P15; CHROMOSOME 7; CONSENSUS; DIFFERENTIAL DIAGNOSIS; GENETIC SCREENING; HUMAN; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MOLECULAR IMPRINTING; OBSERVATIONAL STUDY; PEER REVIEW; PILOT STUDY; PRACTICE GUIDELINE; PRENATAL PERIOD; PRIORITY JOURNAL; QUALITY CONTROL; REVIEW; SILVER RUSSELL SYNDROME; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11; EUROPE; GENETICS; GENOME IMPRINTING; MEDICAL SOCIETY; SILVER-RUSSELL SYNDROME; STANDARDS;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; EUROPE; GENETIC TESTING; GENOMIC IMPRINTING; HUMANS; PRACTICE GUIDELINES AS TOPIC; SILVER-RUSSELL SYNDROME; SOCIETIES, MEDICAL;

EID: 84966473561     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.45     Document Type: Review

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