共 11 条
[1]
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
[J].
Amir, RE
;
Van den Veyver, IB
;
Wan, M
;
Tran, CQ
;
Francke, U
;
Zoghbi, HY
.
NATURE GENETICS,
1999, 23 (02)
:185-188

Amir, RE
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

Van den Veyver, IB
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

Wan, M
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

Tran, CQ
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

Francke, U
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

Zoghbi, HY
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[2]
Key clinical features to identify girls with CDKL5 mutations
[J].
Bahi-Buisson, Nadia
;
Nectoux, Juliette
;
Rosas-Vargas, Haydee
;
Milh, Mathieu
;
Boddaert, Nathalie
;
Girard, Benoit
;
Cances, Claude
;
Ville, Dorothee
;
Afenjar, Alexandra
;
Rio, Marlene
;
Heron, Delphine
;
Morel, Marie Ange N'Guyen
;
Arzimanoglou, Alexis
;
Philippe, Christophe
;
Jonveaux, Philippe
;
Chelly, Jamel
;
Bienvenu, Thierry
.
BRAIN,
2008, 131
:2647-2661

Bahi-Buisson, Nadia
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Pediat, Paris, France
Paris Descartes Univ, INSERM, U663, F-75014 Paris, France
Hop Necker Enfants Malad, AP HP, Reference Ctr Epilepsies, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Nectoux, Juliette
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U567, Paris, France
Cochin Hosp, AP HP, Lab Biochem & Mol Genet, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Rosas-Vargas, Haydee
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U567, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Milh, Mathieu
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U29, F-13258 Marseille, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Boddaert, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Pediat, Paris, France
Paris Descartes Univ, INSERM, U663, F-75014 Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Girard, Benoit
论文数: 0 引用数: 0
h-index: 0
机构:
Cochin Hosp, AP HP, Lab Biochem & Mol Genet, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Cances, Claude
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Pediat Neurol Unit, Toulouse, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Ville, Dorothee
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Lyon, Lyon, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Afenjar, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Trousseau Hosp, AP HP, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Rio, Marlene
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Genet, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Heron, Delphine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Dept Genet, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Morel, Marie Ange N'Guyen
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Grenoble, Ctr Language & Learning Disorders, Dept Paediat, F-38043 Grenoble, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Arzimanoglou, Alexis
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Lyon, Lyon, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Philippe, Christophe
论文数: 0 引用数: 0
h-index: 0
机构:
Nancy Brabois Univ, Med Genet Lab, EA 4002, Vandoeuvre Les Nancy, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Jonveaux, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Nancy Brabois Univ, Med Genet Lab, EA 4002, Vandoeuvre Les Nancy, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Chelly, Jamel
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U567, Paris, France
Cochin Hosp, AP HP, Lab Biochem & Mol Genet, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France

Bienvenu, Thierry
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France
INSERM, U567, Paris, France
Cochin Hosp, AP HP, Lab Biochem & Mol Genet, Paris, France Paris Descartes Univ, Cochin Inst, CNRS, Lab Genet & Physiopathol Malad Neurodev,UMR 8104, F-75014 Paris, France
[3]
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant
[J].
Bahi-Buisson, Nadia
;
Nectoux, Juliette
;
Girard, Benoit
;
Van Esch, Hilde
;
De Ravel, Thomy
;
Boddaert, Nathalie
;
Plouin, Perrine
;
Rio, Marlene
;
Fichou, Yann
;
Chelly, Jamel
;
Bienvenu, Thierry
.
NEUROGENETICS,
2010, 11 (02)
:241-249

Bahi-Buisson, Nadia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France
INSERM, U567, Paris, France
Hop Necker Enfants Malad, Serv Neuropediat, AP HP, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Nectoux, Juliette
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France
INSERM, U567, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Girard, Benoit
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Cochin, Lab Biochim & Genet Mol, AP HP, F-75674 Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Van Esch, Hilde
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

De Ravel, Thomy
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Boddaert, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Serv Radiol Pediat, AP HP, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Plouin, Perrine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Serv Electroencephalog, AP HP, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Rio, Marlene
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Serv Genet, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Fichou, Yann
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France
INSERM, U567, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Chelly, Jamel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France
INSERM, U567, Paris, France
Hop Cochin, Lab Biochim & Genet Mol, AP HP, F-75674 Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France

Bienvenu, Thierry
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France
INSERM, U567, Paris, France
Hop Cochin, Lab Biochim & Genet Mol, AP HP, F-75674 Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR8104, Paris, France
[4]
Identification of cis-regulatory elements for MECP2 expression
[J].
Liu, Jinglan
;
Francke, Uta
.
HUMAN MOLECULAR GENETICS,
2006, 15 (11)
:1769-1782

Liu, Jinglan
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Beckman Ctr Mol & Genet Med, Dept Genet, Stanford, CA 94305 USA

Francke, Uta
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Beckman Ctr Mol & Genet Med, Dept Genet, Stanford, CA 94305 USA
[5]
Rett Syndrome: Revised Diagnostic Criteria and Nomenclature
[J].
Neul, Jeffrey L.
;
Kaufmann, Walter E.
;
Glaze, Daniel G.
;
Christodoulou, John
;
Clarke, Angus J.
;
Bahi-Buisson, Nadia
;
Leonard, Helen
;
Bailey, Mark E. S.
;
Schanen, N. Carolyn
;
Zappella, Michele
;
Renieri, Alessandra
;
Huppke, Peter
;
Percy, Alan K.
.
ANNALS OF NEUROLOGY,
2010, 68 (06)
:944-950

Neul, Jeffrey L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Kaufmann, Walter E.
论文数: 0 引用数: 0
h-index: 0
机构:
Kennedy Krieger Inst, Ctr Genet Disorders Cognit & Behav, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, Baltimore, MD USA Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Glaze, Daniel G.
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Christodoulou, John
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sydney, Childrens Hosp Westmead, Disciplines Paediat & Child Hlth & Genet Med, Western Sydney Genet Program, Sydney, NSW 2006, Australia Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Clarke, Angus J.
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Med, Inst Med Genet, Cardiff, S Glam, Wales Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Bahi-Buisson, Nadia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, Paris, France Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Leonard, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Bailey, Mark E. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Glasgow, Fac Biomed & Life Sci, Glasgow, Lanark, Scotland Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Schanen, N. Carolyn
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I duPont Hosp Children, Wilmington, DE USA Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Zappella, Michele
论文数: 0 引用数: 0
h-index: 0
机构:
Rett Ctr Versilia Hosp, Viareggio, Italy Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Renieri, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, I-53100 Siena, Italy Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Huppke, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA

Percy, Alan K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Pediat, Birmingham, AL USA Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA
[6]
Rett Syndrome Diagnostic Criteria: Lessons from the Natural History Study
[J].
Percy, Alan K.
;
Neul, Jeffrey L.
;
Glaze, Daniel G.
;
Motil, Kathleen J.
;
Skinner, Steven A.
;
Khwaja, Omar
;
Lee, Hye-Seung
;
Lane, Jane B.
;
Barrish, Judy O.
;
Annese, Fran
;
McNair, Lauren
;
Graham, Joy
;
Barnes, Katherine
.
ANNALS OF NEUROLOGY,
2010, 68 (06)
:951-955

Percy, Alan K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA
Univ Alabama, Civitan Int Res Ctr, Birmingham, AL USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Neul, Jeffrey L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Pediat Neurol, Houston, TX 77030 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Glaze, Daniel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Pediat Neurol, Houston, TX 77030 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Motil, Kathleen J.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Pediat Gastroenterol, Houston, TX 77030 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Skinner, Steven A.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Dept Genet, Greenwood, SC 29646 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Khwaja, Omar
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Dept Neurol, Cambridge, MA 02138 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Lee, Hye-Seung
论文数: 0 引用数: 0
h-index: 0
机构:
Univ S Florida, Dept Pediat Neurol, Tampa, FL USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Lane, Jane B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA
Univ Alabama, Civitan Int Res Ctr, Birmingham, AL USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Barrish, Judy O.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Pediat Neurol, Houston, TX 77030 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Annese, Fran
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Dept Genet, Greenwood, SC 29646 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

McNair, Lauren
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Dept Genet, Greenwood, SC 29646 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Graham, Joy
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Dept Genet, Greenwood, SC 29646 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA

Barnes, Katherine
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Dept Neurol, Cambridge, MA 02138 USA Univ Alabama, Dept Pediat Neurol, Birmingham, AL USA
[7]
Early Infantile Onset "Congenital" Rett Syndrome Variants: Swedish Experience Through Four Decades and Mutation Analysis
[J].
Rajaei, Saideh
;
Erlandson, Anna
;
Kyllerman, Marten
;
Albage, Margareta
;
Lundstrom, Isa
;
Karrstedt, Ewa-Lotta
;
Hagberg, Bengt
.
JOURNAL OF CHILD NEUROLOGY,
2011, 26 (01)
:65-71

Rajaei, Saideh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden

Erlandson, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden

Kyllerman, Marten
论文数: 0 引用数: 0
h-index: 0
机构:
Sahlgrenska Univ Hosp E, Queen Silvia Childrens Hosp, Dept Paediat, Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden

Albage, Margareta
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ, Astrid Lindgren Childrens Hosp, Dept Paediat, Stockholm, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden

Lundstrom, Isa
论文数: 0 引用数: 0
h-index: 0
机构:
Umea Univ, Umea Childrens Hosp, Dept Paediat, S-90187 Umea, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden

Karrstedt, Ewa-Lotta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden

Hagberg, Bengt
论文数: 0 引用数: 0
h-index: 0
机构:
Sahlgrenska Univ Hosp E, Queen Silvia Childrens Hosp, Dept Paediat, Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Med & Clin Genet, SE-40530 Gothenburg, Sweden
[8]
Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
[J].
Temudo, Teresa
;
Santos, Monica
;
Ramos, Elisabete
;
Dias, Karin
;
Vieira, Jose Pedro
;
Moreira, Ana
;
Calado, Eulalia
;
Carrilho, Ines
;
Oliveira, Guiomar
;
Levy, Antonio
;
Barbot, Clara
;
Fonseca, Maria
;
Cabral, Alexandra
;
Cabral, Pedro
;
Monteiro, Jose
;
Borges, Luis
;
Gomes, Roseli
;
Mira, Graca
;
Pereira, Susana Aires
;
Santos, Manuela
;
Fernandes, Anabela
;
Epplen, Jorg T.
;
Sequeiros, Jorge
;
Maciel, Patricia
.
BRAIN & DEVELOPMENT,
2011, 33 (01)
:69-76

Temudo, Teresa
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Santos, Monica
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Minho, Inst Invest Ciencias Vida & Saude ICVS, Escola Ciencias Saude, Braga, Portugal
Univ Porto, ICBAS, Oporto, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Ramos, Elisabete
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Porto, Serv Higiene & Epidemiol, Fac Med, Oporto, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Dias, Karin
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Da Estefania, Serv Neuropediat, Lisbon, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Vieira, Jose Pedro
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Da Estefania, Serv Neuropediat, Lisbon, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Moreira, Ana
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Da Estefania, Serv Neuropediat, Lisbon, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Calado, Eulalia
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Da Estefania, Serv Neuropediat, Lisbon, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Carrilho, Ines
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Criancas Maria Pia, Serv Neuropediat, Oporto, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Oliveira, Guiomar
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Pediat, Ctr Neuropediat, Cohnbra, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Levy, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Santa Maria, Serv Pediat, Lisbon, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Barbot, Clara
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Criancas Maria Pia, Serv Neuropediat, Oporto, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Fonseca, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Garcia da Horta, Serv Pediat, Almada, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Cabral, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Pediat, Ctr Neuropediat, Cohnbra, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Cabral, Pedro
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Egas Moniz, Serv Neurol, Lisbon, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Monteiro, Jose
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Garcia da Horta, Serv Pediat, Almada, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Borges, Luis
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Pediat, Ctr Neuropediat, Cohnbra, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Gomes, Roseli
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Pedro Hispano, Serv Pediat, Matosinhos, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Mira, Graca
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Espirito Santo, Serv Pediat, Evora, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Pereira, Susana Aires
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Vila Nova de Gaia, Serv Pediat, Vila Nova De Gaia, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Santos, Manuela
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Criancas Maria Pia, Serv Neuropediat, Oporto, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Fernandes, Anabela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Minho, Inst Invest Ciencias Vida & Saude ICVS, Escola Ciencias Saude, Braga, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Epplen, Jorg T.
论文数: 0 引用数: 0
h-index: 0
机构:
Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Sequeiros, Jorge
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Porto, ICBAS, Oporto, Portugal
UnIGENe, IBMC Inst Mol & Cell Biol, Oporto, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal

Maciel, Patricia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Minho, Inst Invest Ciencias Vida & Saude ICVS, Escola Ciencias Saude, Braga, Portugal Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal
[9]
MECP2 mutations in males
[J].
Villard, Laurent
.
JOURNAL OF MEDICAL GENETICS,
2007, 44 (07)
:417-423

Villard, Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med La Timone, INSERM U491, F-13385 Marseille 5, France Fac Med La Timone, INSERM U491, F-13385 Marseille 5, France
[10]
Rett syndrome and beyond:: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
[J].
Wan, MM
;
Lee, SSJ
;
Zhang, XY
;
Houwink-Manville, I
;
Song, HR
;
Amir, RE
;
Budden, S
;
Naidu, S
;
Pereira, JLP
;
Lo, IFM
;
Zoghbi, HY
;
Schanen, NC
;
Francke, U
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1999, 65 (06)
:1520-1529

Wan, MM
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Lee, SSJ
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Zhang, XY
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Houwink-Manville, I
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Song, HR
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Amir, RE
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Budden, S
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

论文数: 引用数:
h-index:
机构:

Pereira, JLP
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Lo, IFM
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Zoghbi, HY
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Schanen, NC
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

Francke, U
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA