Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: A challenge for molecular analysis and genetic counseling

European Journal of Human Genetics

Volumn 24, Issue 6, 2016, Pages 784-793

  Eggermann, Thomas ^a   Brioude, Frédéric ^b,c,d   Russo, Silvia ^e   Lombardi, Maria P ^f   Bliek, Jet ^f   Maher, Eamonn R ^g   Larizza, Lidia ^e   Prawitt, Dirk ^h   Netchine, Irne ^b,c,d   Gonzales, Marie ^c,d   Grønskov, Karen ⁱ   Tümer, Zeynep ⁱ   Monk, David ^j   Mannens, Marcel ^f   Chrzanowska, Krystyna ^k   Walasek, Malgorzata K ^k   Begemann, Matthias ^a   Soellner, Lukas ^a   Eggermann, Katja ^a   Tenorio, Jair ^l,m   Nevado, Julin ^l,m   Moore, Gudrun E ⁿ   Mackay, Deborah J G ^o   Temple, Karen ^o   Gillessen Kaesbach, Gabriele ^p   Ogata, Tsutomu ^q   Weksberg, Rosanna ^r,s,t   Algar, Elizabeth ^u   Lapunzina, Pablo ^l,m   more..

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^f UNIVERSITY OF AMSTERDAM   (Netherlands)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

ⁱ Mental Health Services CPH   (Denmark)

^j BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^k CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^l HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^m INSTITUTO DE SALUD CARLOS III   (Spain)

ⁿ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^o UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^p UNIVERSITY OF LÜBECK   (Germany)

^q HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^r HOSPITAL FOR SICK CHILDREN   (Canada)

^s UNIVERSITY OF TORONTO   (Canada)

^t UNIVERSITY OF TORONTO   (Canada)

^u SOUTHERN HEALTH   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; MOLECULAR GENETICS; MOSAICISM; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENCE RISK; REVIEW; SILVER RUSSELL SYNDROME; BECKWITH-WIEDEMANN SYNDROME; GENETICS; PROCEDURES; SILVER-RUSSELL SYNDROME; STANDARDS;

BECKWITH-WIEDEMANN SYNDROME; GENETIC COUNSELING; GENETIC TESTING; HUMANS; PRENATAL DIAGNOSIS; SILVER-RUSSELL SYNDROME;

EID: 84945538788     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.224     Document Type: Review

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