Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
第一作者:
Kuentz, Paul
作者:
Kuentz, Paul [1]
;
St-Onge, Judith [2]
;
Duffourd, Yannis [3]
;
Courcet, Jean-Benoit [4]
;
Carmignac, Virginie [5]
;
Jouan, Thibaud [6]
;
Sorlin, Arthur [7]
;
Abasq-Thomas, Claire [8]
;
Albuisson, Juliette [9]
;
Amiel, Jeanne [10]
;
Amram, Daniel [11]
;
Arpin, Stephanie [12]
;
Attie-Bitach, Tania [13]
;
Bahi-Buisson, Nadia [14]
;
Barbarot, Sebastien [15]
;
Baujat, Genevieve [16]
;
Bessis, Didier [17]
;
Boccara, Olivia [18]
;
Bonniere, Maryse [19]
;
Boute, Odile [20]
;
Bursztejn, Anne-Claire [21]
;
Chiaverini, Christine [22]
;
Cormier-Daire, Valerie [23]
;
Coubes, Christine [24]
;
Delobel, Bruno [25]
;
Edery, Patrick [26]
;
El Chehadeh, Salima [27]
;
Francannet, Christine [28]
;
Genevieve, David [29]
;
Goldenberg, Alice [30]
;
Haye, Damien [31]
;
Isidor, Bertrand [32]
;
Jacquemont, Marie-Line [33]
;
Van Kien, Philippe Khau [34]
;
Lacombe, Didier [35]
;
Martin, Ludovic [36]
;
Martinovic, Jelena ;
Maruani, Annabel ;
Mathieu-Dramard, Michele ;
Mazereeuw-Hautier, Juliette ;
Michot, Caroline ;
Mignot, Cyril ;
Miquel, Juliette ;
Morice-Picard, Fanny ;
Petit, Florence ;
Phan, Alice ;
Rossi, Massimiliano ;
Touraine, Renaud ;
Verloes, Alain ;
Vincent, Marie ;
Vincent-Delorme, Catherine ;
Whalen, Sandra ;
Willems, Marjolaine ;
Marle, Nathalie ;
Lehalle, Daphne ;
Thevenon, Julien ;
Thauvin-Robinet, Christel ;
Hadj-Rabia, Smail ;
Faivre, Laurence ;
Vabres, Pierre ;
Riviere, Jean-Baptiste
作者单位:
CHU Nimes, Unite Genet Med & Cytogenet, Nimes, France
[1]
Hop Antoine Beclere, APHP, Unite Foetopathol, Clamart, France
[2]
CHU Rouen, Serv Genet, Rouen, France
[3]
CHU Dijon Bourgogne, Federat Hosp Univ Med Translat & Anomalies Dev, Dijon, France
[4]
CHI Creteil, Unite Genet Clin, Creteil, France
[5]
Univ Paris 05, Hop Univ Necker Enfants Malad, Sorbonne Paris Cite, Dept Dermatol,Inst Imagine
[6]
CHRU Montpellier, Dept Genet Med Malad Rares & Med Personnalisee, Montpellier, France
[7]
Hop Hautepierre, Hop Univ Strasbourg, Serv Genet Med, Strasbourg, France
[8]
CHU Toulouse, Ctr Reference Malad Rares Peau, Toulouse, France
[9]
CHU Nancy, Serv Dermatol, Nancy, France
[10]
CHU Lyon, Serv Dermatol, Lyon, France
[11]
CHU St Etienne, Serv Genet Clin, St Priest En Jarez, France
[12]
CHU Nantes, Serv Dermatol, Nantes, France
[13]
Hop Europeen Georges Pompidou, Ctr Reference Malad Vasc Rares, Paris, France
[14]
CHU Amiens, Ctr Activ Genet Clin & Oncogenet, Amiens, France
[15]
Hosp Civils Lyon, Dept Genet, Lyon, France
[16]
CHU Nantes, Serv Genet Med, Nantes, France
[17]
CHU Lille, Serv Genet Clin, Lille, France
[18]
CHU Clermont Ferrand, Serv Genet Med, Clermont Ferrand, France
[19]
Univ Tours, Serv Dermatol, Unite Dermatol Pediat, CIC,Inserm 1415, Tours, France
[20]
CHU Reunion, Serv Pediat Gen, St Pierre, St Pierre & Miq, France
[21]
CHU Tours, Serv Pediat, Tours, France
[22]
Hop Armand Trousseau, Unite Fonct Genet Clin, Paris, France
[23]
Hop Necker Enfants Malad, Serv Genet Med, Paris, France
[24]
CHU Angers, Serv Dermatol, Angers, France
[25]
CHRU Montpellier, Dept Dermatol, Montpellier, France
[26]
GH La Pitie Salpetriere, APHP,Dept Genet & Cytogenet, Ctr Reference Deficiences Intellectuelles
[27]
Univ Bourgogne Franche Comte, Genet Anomalies Dev, Equipe Accueil 4271, Dijon, France
[28]
CHU Nice, Serv Dermatol, Nice, France
[29]
GH Inst Catholique Lille, Ctr Genet Chromos, Lille, France
[30]
Univ Bordeaux, CHU Bordeaux, Serv Genet Med, INSERM,U1211, Bordeaux, France
[31]
Hop Necker Enfants Malad, Serv Histol Embryol Cytogenet, Paris, France
[32]
CHU Brest Morvan, Dept Pediat & Genet Med, Brest, France
[33]
CHU Reunion, Unite Genet Med, St Pierre, St Pierre & Miq, France
[34]
Hop Robert Debre, Unite Fonct Genet Clin, Paris, France
[35]
CHRU Tours, Serv Genet Clin, Tours, France
[36]
发布时间
2018-05-11
- 浏览3
Genetics in medicine
Genetics in medicine
989-997页
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