共 24 条
[1]
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements
[J].
Allou, Lila
;
Lambert, Laetitia
;
Amsallem, Daniel
;
Bieth, Eric
;
Edery, Patrick
;
Destree, Anne
;
Rivier, Francois
;
Amor, David
;
Thompson, Elizabeth
;
Nicholl, Julian
;
Harbord, Michael
;
Nemos, Christophe
;
Saunier, Aline
;
Moustaine, Aissa
;
Vigouroux, Adeline
;
Jonveaux, Philippe
;
Philippe, Christophe
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2012, 20 (12)
:1216-1223

Allou, Lila
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Lambert, Laetitia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France
Ctr Hosp Reg & Univ, Hop Enfants, Serv Med Infantile 1, Vandoeuvre Les Nancy, France
Maternite Reg Univ, Unite Genet Clin, Nancy, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Amsallem, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Jacques, Serv Neuropediat, F-25030 Besancon, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Bieth, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Purpan, Serv Genet Med, Toulouse, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Edery, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Est, Serv Cytogenet Constitut, Hosp Civils Lyon, Bron, France
INSERM, U102, F-69008 Lyon, France
Univ Lyon 1, CNRS, UMR5292, Lyon Neurosci Res Ctr,TIGER Team, F-69365 Lyon, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Destree, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Genet Humaine, Charleroi, Belgium Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Rivier, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Montpellier, Neuropediat CR Malad Neuromusculaires, Montpellier, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Amor, David
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Thompson, Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Womens & Childrens Hosp, SA Clin Genet Serv, SA Pathol, Adelaide, SA, Australia Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Nicholl, Julian
论文数: 0 引用数: 0
h-index: 0
机构:
Womens & Childrens Hosp, Dept Cytogenet, SA Pathol, Adelaide, SA, Australia Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Harbord, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Flinders Med Ctr, Dept Paediat, Bedford Pk, SA, Australia Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Nemos, Christophe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Saunier, Aline
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ, Lab Genet Med, Vandoeuvre Les Nancy, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Moustaine, Aissa
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ, Lab Genet Med, Vandoeuvre Les Nancy, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Vigouroux, Adeline
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Purpan, Serv Genet Med, Toulouse, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

Jonveaux, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France
Ctr Hosp Reg & Univ, Lab Genet Med, Vandoeuvre Les Nancy, France Univ Lorraine, EA Deficiences Mentales & Anomalies Struct Genome, Fac Med, Vandoeuvre Les Nancy, France

论文数: 引用数:
h-index:
机构:
[2]
FOXG1 is responsible for the congenital variant of Rett syndrome
[J].
Ariani, Francesca
;
Hayek, Giuseppe
;
Rondinella, Dalila
;
Artuso, Rosangela
;
Mencarelli, Maria Antonietta
;
Spanhol-Rosseto, Ariele
;
Pollazzon, Marzia
;
Buoni, Sabrina
;
Spiga, Ottavia
;
Ricciardi, Sara
;
Meloni, Ilaria
;
Longo, Ilaria
;
Mari, Francesca
;
Broccoli, Vania
;
Zappella, Michele
;
Renieri, Alessandra
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2008, 83 (01)
:89-93

Ariani, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Hayek, Giuseppe
论文数: 0 引用数: 0
h-index: 0
机构:
Child Neuropsychiatry Univ Hosp, AOUS, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Rondinella, Dalila
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

论文数: 引用数:
h-index:
机构:

Mencarelli, Maria Antonietta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Spanhol-Rosseto, Ariele
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

论文数: 引用数:
h-index:
机构:

Buoni, Sabrina
论文数: 0 引用数: 0
h-index: 0
机构:
Child Neuropsychiatry Univ Hosp, AOUS, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Spiga, Ottavia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Ricciardi, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Sci San Raffaele, I-20132 Milan, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Meloni, Ilaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

论文数: 引用数:
h-index:
机构:

Mari, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Broccoli, Vania
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Sci San Raffaele, I-20132 Milan, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Zappella, Michele
论文数: 0 引用数: 0
h-index: 0
机构:
Child Neuropsychiatry Univ Hosp, AOUS, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

Renieri, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy
[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]
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
[J].
Bisgaard, Anne-Marie
;
Kirchhoff, Maria
;
Tumer, Zeynep
;
Jepsen, Birgit
;
Brondum-Nielsen, Karen
;
Cohen, Monika
;
Hamborg-Petersen, Bente
;
Bryndorf, Thue
;
Tommerup, Niels
;
Skovby, Flemming
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2006, 140A (20)
:2180-2187

Bisgaard, Anne-Marie
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

Kirchhoff, Maria
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

Tumer, Zeynep
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

Jepsen, Birgit
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

Brondum-Nielsen, Karen
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

Cohen, Monika
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

Hamborg-Petersen, Bente
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

Bryndorf, Thue
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

论文数: 引用数:
h-index:
机构:

Skovby, Flemming
论文数: 0 引用数: 0
h-index: 0
机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark
[5]
Corpus Callosum Agenesis, Severe Mental Retardation, Epilepsy, and Dyskinetic Quadriparesis Due To a Novel Mutation in the Homeodomain of ARX
[J].
Conti, Valerio
;
Marini, Carla
;
Gana, Simone
;
Sudi, Jyotsna
;
Dobyns, William B.
;
Guerrini, Renzo
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2011, 155A (04)
:892-897

论文数: 引用数:
h-index:
机构:

Marini, Carla
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florence, Childrens Hosp A Meyer, Paediat Neurol & Neurogenet Unit & Labs, I-50139 Florence, Italy Univ Florence, Childrens Hosp A Meyer, Paediat Neurol & Neurogenet Unit & Labs, I-50139 Florence, Italy

论文数: 引用数:
h-index:
机构:

Sudi, Jyotsna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Florence, Childrens Hosp A Meyer, Paediat Neurol & Neurogenet Unit & Labs, I-50139 Florence, Italy

Dobyns, William B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Ctr Integrat Brain Res, Seattle Childrens Res Inst, Seattle, WA 98195 USA Univ Florence, Childrens Hosp A Meyer, Paediat Neurol & Neurogenet Unit & Labs, I-50139 Florence, Italy

Guerrini, Renzo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florence, Childrens Hosp A Meyer, Paediat Neurol & Neurogenet Unit & Labs, I-50139 Florence, Italy
Res Inst IRCCS Stella Maris Fdn, Pisa, Italy Univ Florence, Childrens Hosp A Meyer, Paediat Neurol & Neurogenet Unit & Labs, I-50139 Florence, Italy
[6]
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics
[J].
De Filippis, R.
;
Pancrazi, L.
;
Bjorgo, K.
;
Rosseto, A.
;
Kleefstra, T.
;
Grillo, E.
;
Panighini, A.
;
Cardarelli, F.
;
Meloni, I.
;
Ariani, F.
;
Mencarelli, M. A.
;
Hayek, J.
;
Renieri, A.
;
Costa, M.
;
Mari, F.
.
CLINICAL GENETICS,
2012, 82 (04)
:395-403

De Filippis, R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Pancrazi, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Italian Natl Res Council CNR, Inst Neurosci, Pisa, Italy
Scuola Normale Super Pisa, Pisa, Italy Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Bjorgo, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Rosseto, A.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Kleefstra, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Grillo, E.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Panighini, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Italian Natl Res Council CNR, Inst Neurosci, Pisa, Italy Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Cardarelli, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Italiano Tecnol, Ctr Nanotechnol Innovat NEST, Pisa, Italy Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Meloni, I.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Ariani, F.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Mencarelli, M. A.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Hayek, J.
论文数: 0 引用数: 0
h-index: 0
机构:
AOUS, Univ Hosp, Siena, Italy Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Renieri, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Costa, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Italian Natl Res Council CNR, Inst Neurosci, Pisa, Italy
Scuola Normale Super Pisa, Pisa, Italy Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy

Mari, F.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Policlin Le Scotte, Dept Biotechnol, I-53100 Siena, Italy
[7]
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
[J].
Deprez, L.
;
Weckhuysen, S.
;
Holmgren, P.
;
Suls, A.
;
Van Dyck, T.
;
Goossens, D.
;
Del-Favero, J.
;
Jansen, A.
;
Verhaert, K.
;
Lagae, L.
;
Jordanova, A.
;
Van Coster, R.
;
Yendle, S.
;
Berkovic, S. F.
;
Scheffer, I.
;
Ceulemans, B.
;
De Jonghe, P.
.
NEUROLOGY,
2010, 75 (13)
:1159-1165

Deprez, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium
Inst Born Bunge, Antwerp, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Weckhuysen, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium
Inst Born Bunge, Antwerp, Belgium
Epilepsy Ctr Kempenhaeghe, Oosterhout, Netherlands Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Holmgren, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium
Inst Born Bunge, Antwerp, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Suls, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium
Inst Born Bunge, Antwerp, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Van Dyck, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium
Inst Born Bunge, Antwerp, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Goossens, D.
论文数: 0 引用数: 0
h-index: 0
机构:
VIB, Dept Mol Genet, Appl Mol Genom Grp, Antwerp, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Del-Favero, J.
论文数: 0 引用数: 0
h-index: 0
机构:
VIB, Dept Mol Genet, Appl Mol Genom Grp, Antwerp, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Jansen, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium
Inst Born Bunge, Antwerp, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Verhaert, K.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Lagae, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Gasthuisberg, Dept Pediat Neurol, B-3000 Louvain, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Jordanova, A.
论文数: 0 引用数: 0
h-index: 0
机构:
UZ Brussel, Pediat Neurol Unit, Dept Pediat, Brussels, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Van Coster, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Dept Pediat, B-9000 Ghent, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Yendle, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Div Pediat Neurol, Dept Med, B-9000 Ghent, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Berkovic, S. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Div Pediat Neurol, Dept Med, B-9000 Ghent, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

Scheffer, I.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Div Pediat Neurol, Dept Med, B-9000 Ghent, Belgium
Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Melbourne, Vic, Australia
Univ Melbourne, Dept Pediat, Royal Childrens Hosp, Melbourne, Vic, Australia Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium

论文数: 引用数:
h-index:
机构:

De Jonghe, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium
Inst Born Bunge, Antwerp, Belgium
Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium Univ Antwerp, Neurogenet Res Grp, Antwerp, Belgium
[8]
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
[J].
Ellaway, Carolyn J.
;
Ho, Gladys
;
Bettella, Elisa
;
Knapman, Alisa
;
Collins, Felicity
;
Hackett, Anna
;
McKenzie, Fiona
;
Darmanian, Artur
;
Peters, Gregory B.
;
Fagan, Kerry
;
Christodoulou, John
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2013, 21 (05)
:522-527

Ellaway, Carolyn J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia
Univ Sydney, Sydney Med Sch, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
Univ Sydney, Sydney Med Sch, Discipline Genet Med, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

论文数: 引用数:
h-index:
机构:

Bettella, Elisa
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, NSW Ctr Rett Syndrome Res, Sydney, NSW, Australia
Univ Padua, Dept Pediat, Padua, Italy Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

Knapman, Alisa
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, NSW Ctr Rett Syndrome Res, Sydney, NSW, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

Collins, Felicity
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia
Univ Sydney, Sydney Med Sch, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
Univ Sydney, Sydney Med Sch, Discipline Genet Med, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

Hackett, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Hunter Genet, Newcastle, NSW, Australia
Genet Serv Western Australia, Perth, WA, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

McKenzie, Fiona
论文数: 0 引用数: 0
h-index: 0
机构:
Hunter Genet, Newcastle, NSW, Australia
Genet Serv Western Australia, Perth, WA, Australia
Univ Newcastle, Sch Biomed Sci, Callaghan, NSW 2308, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

Darmanian, Artur
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

Peters, Gregory B.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia
Univ Sydney, Sydney Med Sch, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
Univ Sydney, Sydney Med Sch, Discipline Genet Med, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

Fagan, Kerry
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle, Sch Biomed Sci, Callaghan, NSW 2308, Australia
John Hunter Hosp, Pathol North Hunter Genet Unit, Newcastle, NSW, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

论文数: 引用数:
h-index:
机构:
[9]
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
[J].
Guerrini, R.
;
Moro, F.
;
Kato, M.
;
Barkovich, A. J.
;
Shiihara, T.
;
McShane, M. A.
;
Hurst, J.
;
Loi, M.
;
Tohyama, J.
;
Norci, V.
;
Hayasaka, K.
;
Kang, U. J.
;
Das, S.
;
Dobyns, W. B.
.
NEUROLOGY,
2007, 69 (05)
:427-433

Guerrini, R.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Moro, F.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Kato, M.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Barkovich, A. J.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Shiihara, T.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

McShane, M. A.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Hurst, J.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Loi, M.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Tohyama, J.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Norci, V.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Hayasaka, K.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Kang, U. J.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Das, S.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy

Dobyns, W. B.
论文数: 0 引用数: 0
h-index: 0
机构: Pediat Hosp A Meyer, I-50132 Florence, Italy
[10]
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature
[J].
Jacob, Francois Dominique
;
Ramaswamy, Vijay
;
Andersen, John
;
Bolduc, Francois V.
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2009, 17 (12)
:1577-1581

Jacob, Francois Dominique
论文数: 0 引用数: 0
h-index: 0
机构: Univ Alberta, Dept Pediat, Div Pediat Neurol, Edmonton, AB T6G 2J3, Canada

论文数: 引用数:
h-index:
机构:

Andersen, John
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Div Neurodev & Neuromotor Pediat, Edmonton, AB T6G 2J3, Canada Univ Alberta, Dept Pediat, Div Pediat Neurol, Edmonton, AB T6G 2J3, Canada

Bolduc, Francois V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Pediat, Div Pediat Neurol, Edmonton, AB T6G 2J3, Canada
Univ Alberta, Ctr Neurosci, Edmonton, AB T6G 2J3, Canada Univ Alberta, Dept Pediat, Div Pediat Neurol, Edmonton, AB T6G 2J3, Canada