Analysis of the Phenotypes in the Rett Networked Database.


Journal

International journal of genomics
ISSN: 2314-436X
Titre abrégé: Int J Genomics
Pays: United States
ID NLM: 101605206

Informations de publication

Date de publication:
2019
Historique:
received: 03 05 2018
revised: 20 08 2018
accepted: 19 12 2018
entrez: 4 5 2019
pubmed: 3 5 2019
medline: 3 5 2019
Statut: epublish

Résumé

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females.

Identifiants

pubmed: 31049350
doi: 10.1155/2019/6956934
pmc: PMC6458890
doi:

Types de publication

Journal Article

Langues

eng

Pagination

6956934

Références

J Pediatr Gastroenterol Nutr. 1999 Jul;29(1):31-7
pubmed: 10400100
Am J Med Genet. 2001 Nov 15;104(1):14-22
pubmed: 11746022
Ment Retard Dev Disabil Res Rev. 2002;8(2):61-5
pubmed: 12112728
J Child Neurol. 2003 Oct;18(10):709-13
pubmed: 14649554
J Med Genet. 2005 Feb;42(2):103-7
pubmed: 15689447
Brain Dev. 1992 Mar;14(2):98-101
pubmed: 1621933
Neurology. 2006 Jul 11;67(1):164-6
pubmed: 16832102
Neurology. 2007 Apr 10;68(15):1183-7
pubmed: 17420401
J Child Neurol. 2007 Dec;22(12):1338-41
pubmed: 18174548
Brain Dev. 2009 Mar;31(3):208-16
pubmed: 18562141
Am J Hum Genet. 2008 Jul;83(1):89-93
pubmed: 18571142
J Pediatr. 2010 Jan;156(1):135-138.e1
pubmed: 19772971
Ann Neurol. 2010 Dec;68(6):951-5
pubmed: 21104896
Ann Neurol. 2010 Dec;68(6):944-50
pubmed: 21154482
Hum Mutat. 2012 Jul;33(7):1031-6
pubmed: 22415763
Mov Disord. 2012 Jul;27(8):1060-2
pubmed: 22711266
Eur J Hum Genet. 2013 Mar;21(3):266-73
pubmed: 22872100
Epilepsia. 2012 Dec;53(12):2067-78
pubmed: 22998673
PLoS One. 2013;8(2):e56599
pubmed: 23468869
Brain Dev. 2018 Aug;40(7):515-529
pubmed: 29657083
Epilepsy Res. 2018 Oct;146:36-40
pubmed: 30071384
Am J Med Genet Suppl. 1986;1:175-81
pubmed: 3087179
Brain Dev. 1985;7(3):290-6
pubmed: 4061760
Brain Dev. 1985;7(3):320-5
pubmed: 4061766
Wien Med Wochenschr. 1966 Sep 10;116(37):723-6
pubmed: 5300597

Auteurs

Elisa Frullanti (E)

Medical Genetics, University of Siena, Italy.

Filomena T Papa (FT)

Medical Genetics, University of Siena, Italy.

Elisa Grillo (E)

Medical Genetics, University of Siena, Italy.

Angus Clarke (A)

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK.

Bruria Ben-Zeev (B)

Pediatric Neurology Unit and Israeli Rett Clinic, Safra Children Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Mercedes Pineda (M)

Neurologia Fundació Sant Joan de Deu, Barcelona, Spain.

Nadia Bahi-Buisson (N)

Pediatric Neurology, Necker-Enfants Malades Hospital, University Paris Descartes, AP-HP, Paris, France.
Imagine Institute, Inserm U1163, Team Genetics and Pathophysiology of the Development of Cerebral Cortex, Paris Descartes University, Paris, France.

Thierry Bienvenu (T)

INSERM, U1016, Paris, France.
Institute Cochin, Université Paris Descartes, CNRS, UMR8104, Paris, France.
Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique, Hôpitaux de Paris, Paris, France.

Judith Armstrong (J)

Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain.
Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.
CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.

Ana Roche Martinez (A)

Neurologia Fundació Sant Joan de Deu, Barcelona, Spain.

Francesca Mari (F)

Medical Genetics, University of Siena, Italy.
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Andreea Nissenkorn (A)

Pediatric Neurology Unit and Israeli Rett Clinic, Safra Children Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Caterina Lo Rizzo (C)

Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Edvige Veneselli (E)

Child Neuropsychiatry, DINOGMI, University of Genova, Genova, Italy.

Silvia Russo (S)

Istituto Auxologico Italiano, IRCCS, Laboratorio di Citogenetica e Genetica Molecolare, Cusano Milanino, Milan, Italy.

Aglaia Vignoli (A)

Epilepsy Center, Childhood and Adolescence Neurology and Psychiatry, ASST Santi Paolo Carlo, Department of Health Sciences, University of Milan, Milan, Italy.

Giorgio Pini (G)

Tuscany Rett Center, Ospedale Versilia, 55043 Lido di Camaiore, Italy.

Milena Djuric (M)

Neurologic Department, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", University of Belgrade, Belgrade, Serbia.

Anne-Marie Bisgaard (AM)

Centre for Rett Syndrome, Department of Paediatrics and Adolescent Medicine, The Kennedy Center, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Kirstine Ravn (K)

Centre for Rett Syndrome, Department of Paediatrics and Adolescent Medicine, The Kennedy Center, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Vlatka Mejaski Bosnjak (VM)

Department of Neuropediatrics, Zagreb Children's Hospital, University of Zagreb, Zagreb, Croatia.

Joussef Hayek (J)

Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy.

Rajni Khajuria (R)

All India Institute of Medical Sciences, Genetics Unit, Department of Pediatrics, New Delhi, India.

Barbara Montomoli (B)

Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Francesca Cogliati (F)

Istituto Auxologico Italiano, IRCCS, Laboratorio di Citogenetica e Genetica Molecolare, Cusano Milanino, Milan, Italy.

Maria Pintaudi (M)

DINOGMI, University of Genova, Genova, Italy.

Kinga Hadzsiev (K)

Department of Medical Genetics, and Szentagothai Research Center, University of Pécs, Medical School, Pécs, Hungary.

Dana Craiu (D)

Carol Davila University of Medicine, Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania.

Victoria Voinova (V)

Ministry of Health, Department of Clinical Genetics, Institute of Pediatrics and Pediatric Surgery, Moscow, Russia.

Aleksandra Djukic (A)

Tri-State Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine, New York City, NY, USA.

Laurent Villard (L)

Aix Marseille University, Inserm, MMG, U1251 Marseille, France.
Department of Medical Genetics, La Timone Children's Hospital, AP-HM, Marseille, France.

Alessandra Renieri (A)

Medical Genetics, University of Siena, Italy.
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Classifications MeSH