Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
- Author
- MANSOUR, Sahar1 ; SWINKELS, Marielle2 ; TERHAL, Paulien A2 ; WILSON, Louise C3 ; RICH, Philip4 ; VAN MALDERGEM, Lionel5 ; ZWIJNENBURG, Petra Jg6 ; HALL, Christine M7 ; ROBERTSON, Stephen P8 ; NEWBURY-ECOB, Ruth9
[1] South West Thames Regional Genetics Service, London, United Kingdom
[2] Department of Medical Genetics, University Medical Center, Utrecht, Netherlands
[3] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
[4] Department of Neuroradiology, St George's Hospital NHS Trust, London, United Kingdom
[5] Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France
[6] Department of Clinical Genetics VUMC, Amsterdam, Netherlands
[7] Institute of Child Health, London, United Kingdom
[8] Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
[9] Department of Clinical Genetics, St Michael's Hospital, Bristol, United Kingdom - Source
European journal of human genetics. 2012, Vol 20, Num 10, pp 1024-1031, 8 p ; ref : 13 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- autosomal recessive bilateral periventricular nodular heterotopia blepharo-naso-facial malformation camptodactyly choanal atresia migration abnormalities
- Keyword (fr)
- Bilatéral Camptodactylie Caractère autosomique Caractère récessif Doigt Face Génétique Héritage Maladie héréditaire Malformation Membre supérieur Migration Atrésie choane Dysostose Pathologie ORL Pathologie de la main Pathologie du nez Pathologie du système ostéoarticulaire
- Keyword (en)
- Bilateral Camptodactyly Autosomal character Recessive character Finger Face Genetics Inheritance Genetic disease Malformation Upper limb Migration Dysostosis ENT disease Disease of the hand Nose disease Diseases of the osteoarticular system
- Keyword (es)
- Bilateral Camptodactilia Carácter autosómico Carácter recesivo Dedo Cara Genética Herencia Enfermedad hereditaria Malformación Miembro superior Migración Disostosis ORL patología Mano patología Nariz patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26389467
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1038/ejhg.2012.57 
https://dx.doi.org/10.1038/ejhg.2012.57
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1038\/ejhg.2012.57\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2012\";s:9:\"\u0000*\u0000volume\";s:2:\"20\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1024\";s:8:\"\u0000*\u0000epage\";s:4:\"1031\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"MANSOUR\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Sahar\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:18:\"SWINKELS, Marielle\";i:1;s:17:\"TERHAL, Paulien A\";i:2;s:16:\"WILSON, Louise C\";i:3;s:12:\"RICH, Philip\";i:4;s:21:\"VAN MALDERGEM, Lionel\";i:5;s:21:\"ZWIJNENBURG, Petra Jg\";i:6;s:17:\"HALL, Christine M\";i:7;s:20:\"ROBERTSON, Stephen P\";i:8;s:18:\"NEWBURY-ECOB, Ruth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1038\/ejhg.2012.57\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2012\";s:9:\"\u0000*\u0000volume\";s:2:\"20\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1024\";s:8:\"\u0000*\u0000epage\";s:4:\"1031\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"MANSOUR\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Sahar\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:18:\"SWINKELS, Marielle\";i:1;s:17:\"TERHAL, Paulien A\";i:2;s:16:\"WILSON, Louise C\";i:3;s:12:\"RICH, Philip\";i:4;s:21:\"VAN MALDERGEM, Lionel\";i:5;s:21:\"ZWIJNENBURG, Petra Jg\";i:6;s:17:\"HALL, Christine M\";i:7;s:20:\"ROBERTSON, Stephen P\";i:8;s:18:\"NEWBURY-ECOB, Ruth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:20:\"10.1038\/ejhg.2012.57\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1038\/ejhg.2012.57\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2012\";s:9:\"\u0000*\u0000volume\";s:2:\"20\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1024\";s:8:\"\u0000*\u0000epage\";s:4:\"1031\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"MANSOUR\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Sahar\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:18:\"SWINKELS, Marielle\";i:1;s:17:\"TERHAL, Paulien A\";i:2;s:16:\"WILSON, Louise C\";i:3;s:12:\"RICH, Philip\";i:4;s:21:\"VAN MALDERGEM, Lionel\";i:5;s:21:\"ZWIJNENBURG, Petra Jg\";i:6;s:17:\"HALL, Christine M\";i:7;s:20:\"ROBERTSON, Stephen P\";i:8;s:18:\"NEWBURY-ECOB, Ruth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1038\/ejhg.2012.57\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2012\";s:9:\"\u0000*\u0000volume\";s:2:\"20\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1024\";s:8:\"\u0000*\u0000epage\";s:4:\"1031\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"MANSOUR\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Sahar\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:18:\"SWINKELS, Marielle\";i:1;s:17:\"TERHAL, Paulien A\";i:2;s:16:\"WILSON, Louise C\";i:3;s:12:\"RICH, Philip\";i:4;s:21:\"VAN MALDERGEM, Lionel\";i:5;s:21:\"ZWIJNENBURG, Petra Jg\";i:6;s:17:\"HALL, Christine M\";i:7;s:20:\"ROBERTSON, Stephen P\";i:8;s:18:\"NEWBURY-ECOB, Ruth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1038\/ejhg.2012.57\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2012\";s:9:\"\u0000*\u0000volume\";s:2:\"20\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1024\";s:8:\"\u0000*\u0000epage\";s:4:\"1031\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"MANSOUR\";s:10:\"\u0000*\u0000aufirst\";s:5:\"Sahar\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:18:\"SWINKELS, Marielle\";i:1;s:17:\"TERHAL, Paulien A\";i:2;s:16:\"WILSON, Louise C\";i:3;s:12:\"RICH, Philip\";i:4;s:21:\"VAN MALDERGEM, Lionel\";i:5;s:21:\"ZWIJNENBURG, Petra Jg\";i:6;s:17:\"HALL, Christine M\";i:7;s:20:\"ROBERTSON, Stephen P\";i:8;s:18:\"NEWBURY-ECOB, Ruth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:134:\"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
