换一批Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
第一作者：
Brioude, Frederic
作者：
Brioude, Frederic [1]
;
Kalish, Jennifer M. [2]
;
Mussa, Alessandro [3]
;
Foster, Alison C. [4]
;
Bliek, Jet [5]
;
Ferrero, Giovanni Battista [6]
;
Boonen, Susanne E. [7]
;
Cole, Trevor [8]
;
Baker, Robert [9]
;
Bertoletti, Monica [10]
;
Cocchi, Guido [11]
;
Coze, Carole [12]
;
De Pellegrin, Maurizio [13]
;
Hussain, Khalid [14]
;
Ibrahim, Abdulla [15]
;
Kilby, Mark D. [16]
;
Krajewska-Walasek, Malgorzata [17]
;
Kratz, Christian P. [18]
;
Ladusans, Edmund J. [19]
;
Lapunzina, Pablo [20]
;
Le Bouc, Yves [21]
;
Maas, Saskia M. [22]
;
Macdonald, Fiona [23]
;
Ounap, Katrin [24]
;
Peruzzi, Licia [25]
;
Rossignol, Sylvie [26]
;
Russo, Silvia [27]
;
Shipster, Caroleen [28]
;
Skorka, Agata [29]
;
Tatton-Brown, Katrina [30]
;
Tenorio, Jair [31]
;
Tortora, Chiara [32]
;
Gronskov, Karen [33]
;
Netchine, Irene ;
Hennekam, Raoul C. ;
Prawitt, Dirk ;
Tumer, Zeynep ;
Eggermann, Thomas ;
Mackay, Deborah J. G. ;
Riccio, Andrea ;
Maher, Eamonn R.
作者单位：
Hosp Univ La Paz UAM, Inst Genet Med & Mol INGEMM IdiPAZ, Paseo Castellana 261, Madrid 28046, Spain
[1]
Hop Univ Strasbourg, Lab Genet Med, INSERM, Serv Pediat,U1112, Ave Moliere, F-67098 Strasbourg
[2]
IRCCS Osped San Raffaele, Pediat Orthopaed Unit, Via Olgettina Milano 60, I-20132 Milano Mi, Italy
[3]
Sidra Med & Res Ctr, Div Endocrinol, Dept Paediat Med, Al Gharrafa St, Doha, Qatar
[4]
Birmingham Womens & Childrens Natl Hlth Serv NHS, West Midlands Reg Genet Lab, Birmingham B15 2TG
[5]
Aix Marseille Univ, 264 Rue St Pierre, F-13385 Marseille, France
[6]
Childrens Mem Hlth Inst, Dept Med Genet, PL-04730 Warsaw, Poland
[7]
Italian Assoc Beckwith Wiedemann Syndrome AIBWS, Piazza Turati 3, I-21029 Vergiate, VA, Italy
[8]
Southmead Hosp, North Bristol Natl Hlth Serv NHS Trust, Dept Plast & Reconstruct Surg, Bristol BS10
[9]
Beckwith Wiedemann Support Grp UK, Drum & Monkey, Sturminster Newton DT10 2EE, Dorset, England
[10]
San Paolo Univ Hosp, Reg Ctr CLP, Smile House,Via Antonio di Rudini 8, I-20142 Milan, Italy
[11]
Univ Cambridge, Dept Med Genet, Cambridge Biomed Campus, Cambridge CB2 0QQ, England
[12]
Univ Campania Luigi Vanvitelli, Dept Environm Biol & Pharmaceut Sci & Technol DiS, Caserta, Italy
[13]
Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, POB 7057, NL-1007 MB Amsterdam, Netherlands
[14]
Natl Hlth Serv NHS Fdn Trust, Great Ormond St Hosp Children, London WC1N 3JH, England
[15]
South West Thames Reg Genet Serv, London SW17 0RE, England
[16]
Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Kennedy Ctr, Blegdamsvej 9, DK-2100 Copenhagen
[17]
Pierre & Marie Curie Paris VI Univ UPMC Univ Pari, Explorat Fonct Endocriniennes, Sorbonne Univ
[18]
Bologna Univ, Dept Paediat, Neonatol Unit, Alma Mater Studiorum, Via Massarenti 11, I-40138 Bologna
[19]
Univ Tartu, Tartu Univ Hosp, United Labs, Dept Clin Genet, L Puusepa 2, EE-51014 Tartu, Estonia
[20]
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat, Meibergdreef 9, NL-1105 AZ
[21]
Birmingham Womens & Childrens Natl Hlth Serv NHS, West Midlands Reg Genet Serv, Birmingham Hlth
[22]
Hannover Med Sch, Pediat Hematol & Oncol, Carl Neuberg Str 1, D-30625 Hannover, Germany
[23]
Univ Torino, Dept Publ Hlth & Pediat Sci, Piazza Polonia 94, I-10126 Turin, Italy
[24]
Univ Southampton, Fac Med, Human Dev & Hlth, Southampton SO17 1BJ, Hants, England
[25]
Tech Univ Aachen, Univ Hosp, Inst Human Genet, Templergraben 55, D-52062 Aachen, Germany
[26]
Royal Manchester Childrens Hosp, Dept Paediat Cardiol, Manchester M13 8WL, Lancs, England
[27]
Univ Birmingham, Coll Med & Dent Sci, Inst Metab & Syst Res, Birmingham B15 2TT, W Midlands, England
[28]
Johannes Gutenberg Univ Mainz, Med Ctr, Ctr Pediat & Adolescent Med, Langenbeckstr 1, D-55101 Mainz
[29]
European Soc Paediat Nephrol ESPN, Inherited Kidney Disorders Working Grp, London, England
[30]
Zealand Univ Hosp, Dept Pediat, Clin Genet Unit, Sygehusvej 10, DK-4000 Roskilde, Denmark
[31]
Univ Penn, Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
[32]
Ist Auxol Italiano, Ctr Ric & Tecnol Biomed IRCCS, Med Cytogenet & Mol Genet Lab, Via Zucchi 18, I
[33]
发布时间
2018-06-23
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Nature reviews. Endocrinology
Nature reviews. Endocrinology
229-249页
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