Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
作者:
den Hoed, Joery [1]
;
de Boer, Elke [2]
;
Voisin, Norine [3]
;
Dingemans, Alexander J. M. [4]
;
Guex, Nicolas [5]
;
Wiel, Laurens [6]
;
Nellaker, Christoffer [7]
;
Amudhavalli, Shivarajan M. [8]
;
Banka, Siddharth [9]
;
Bena, Frederique S. [10]
;
Ben-Zeev, Bruria [11]
;
Bonagura, Vincent R. [12]
;
Bruel, Ange-Line [13]
;
Brunet, Theresa [14]
;
Brunner, Han G. [15]
;
Chew, Hui B. [16]
;
Chrast, Jacqueline [17]
;
Cimbalistiene, Loreta [18]
;
Coon, Hilary [19]
;
Delot, Emmanuelle C. [20]
;
Demurger, Florence [21]
;
Denomme-Pichon, Anne-Sophie [22]
;
Depienne, Christel [23]
;
Donnai, Dian [24]
;
Dyment, David A. [25]
;
Elpeleg, Orly [26]
;
Faivre, Laurence [27]
;
Gilissen, Christian [28]
;
Granger, Leslie [29]
;
Haber, Benjamin [30]
;
Hachiya, Yasuo [31]
;
Abedi, Yasmin Hamzavi [32]
;
Hanebeck, Jennifer [33]
;
Hehir-Kwa, Jayne Y. [34]
;
Horist, Brooke [35]
;
Itai, Toshiyuki [36]
;
Jackson, Adam [37]
;
Jewell, Rosalyn [38]
;
Jones, Kelly L. [39]
;
Joss, Shelagh [40]
;
Kashii, Hirofumi [41]
;
Kato, Mitsuhiro [42]
;
Kattentidt-Mouravieva, Anja A. [43]
;
Kok, Fernando [44]
;
Kotzaeridou, Urania [45]
;
Krishnamurthy, Vidya [46]
;
Kucinskas, Vaidutis [47]
;
Kuechler, Alma [48]
;
Lavillaureix, Alinoe [49]
;
Liu, Pengfei [50]
;
Manwaring, Linda ;
Matsumoto, Naomichi ;
Mazel, Benoit ;
McWalter, Kirsty ;
Meiner, Vardiella ;
Mikati, Mohamad A. ;
Miyatake, Satoko ;
Mizuguchi, Takeshi ;
Moey, Lip H. ;
Mohammed, Shehla ;
Mor-Shaked, Hagar ;
Mountford, Hayley ;
Newbury-Ecob, Ruth ;
Odent, Sylvie ;
Orec, Laura ;
Osmond, Matthew ;
Palculict, Timothy B. ;
Parker, Michael ;
Petersen, Andrea K. ;
Pfundt, Rolph ;
Preiksaitiene, Egle ;
Radtke, Kelly ;
Ranza, Emmanuelle ;
Rosenfeld, Jill A. ;
Santiago-Sim, Teresa ;
Schwager, Caitlin ;
Sinnema, Margje ;
Blok, Lot Snijders ;
Spillmann, Rebecca C. ;
Stegmann, Alexander P. A. ;
Thiffault, Isabelle ;
Linh Tran ;
Vaknin-Dembinsky, Adi ;
Vedovato-dos-Santos, Juliana H. ;
Vergano, Samantha A. Schrier ;
Vilain, Eric ;
Vitobello, Antonio ;
Wagner, Matias ;
Waheeb, Androu ;
Willing, Marcia ;
Zuccarelli, Britton ;
Kini, Usha ;
Newbury, Dianne F. ;
Kleefstra, Tjitske ;
Reymond, Alexandre ;
Fisher, Simon E. ;
Vissers, Lisenka E. L. M. ;
DDD Study
作者单位:
Sch Med,Univ Kansas
[1]
Oxford Ctr Genom Med,Oxford Univ Hosp NHS Fdn Trust
[2]
Dept Biol & Med Sci,Oxford Brookes Univ
[3]
Dept Human Genet,Radboudumc
[4]
Ctr Integrat Genom,Univ Lausanne
[5]
Language & Genet Dept,Max Planck Inst Psycholinguist
[6]
Wellcome Sanger Inst
[7]
John Radcliffe Hosp,Univ Oxford
[8]
Sch Med,Univ Missouri
[9]
Fac Biol Med & Hlth,Univ Manchester
[10]
Serv Genet Med,Univ Hosp Geneva
[11]
Edmomd & Lilly Safra Pediat Hosp,Tel Aviv Univ
[12]
Inst Mol Med,Feinstein Inst Med Res
[13]
Genet Anomalies Dev,Univ Bourgogne Franche Comte
[14]
Inst Human Genet,Tech Univ Munich
[15]
Dept Genet,Kuala Lumpur Hosp
[16]
Fac Med,Vilnius Univ
[17]
Dept Psychiat,Univ Utah
[18]
Childrens Natl Hosp,George Washington Univ
[19]
Dept Clin Genet,Vannes Hosp
[20]
Univ Hosp Essen,Univ Duisburg Essen
[21]
Childrens Hosp Eastern Ontario Res Inst
[22]
Hadassah Med Ctr,Hebrew Univ Med Ctr
[23]
Randall Childrens Hosp,Legacy Emanuel Med Ctr
[24]
Ctr Paediat & Adolescent Med,Univ Hosp Heidelberg
[25]
Dept Neuropediat,Tokyo Metropolitan Neurol Hosp
[26]
Div Allergy & Immunol,Northwell Hlth
[27]
Princess Maxima Ctr Pediat Oncol
[28]
Pediat & Genet
[29]
Dept Human Genet,Yokohama City Univ
[30]
Yorkshire Reg Genet Serv,Chapel Allerton Hosp
[31]
Div Med Genet & Metab,Kings Daughters
[32]
West Scotland Ctr Genom Med,Queen Elizabeth Univ Hosp
[33]
Dept Pediat,Showa Univ
[34]
Zuidwester
[35]
Mendelics Genom Anal
[36]
Ctr Reference Malad Rares CLAD Ouest,Univ Rennes
[37]
GeneDx
[38]
Sheffield Clin Genet Serv,Sheffield Childrens Hosp
[39]
Clin Genom Dept,Ambry Genet
[40]
Dept Mol & Human Genet,Baylor Coll Med
[41]
Dept Clin Genet,Maastricht Univ Med Ctr AzM
[42]
Dept Pediat,Duke Univ
[43]
Div Pediat Neurol,Duke Univ
[44]
Fac Med,Hebrew Univ Jerusalem
[45]
Dept Genet,Penang Gen Hosp
[46]
Clin Genet,Guys Hosp
[47]
Dept Pediat,Washington Univ
[48]
Ctr Genet,Ctr Hosp Univ Dijon
[49]
St Michaels Hosp Bristol,Univ Hosp Bristol NHS Fdn Trust
[50]
发布时间
2022-12-22
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