Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion
- Author
- KANTAPUTRA, Piranit N1 ; LIMWONGSE, Chanin2 ; TOCHAREONTANAPHOL, Chintana3 ; MUTIRANGURA, Apiwat4 ; MEVATEE, Umnat5 ; PRAPHANPHOJ, Verayuth6
[1] Faculty of Dentistry, Department of Pediatric Dentistry, Chiang Mai University, Chiang Mai, Bangkok, Thailand
[2] Facuky of Medicine, Department of Research and Development, Molecular Genetic Unit, Siriraj Hospital, Mahidol University, Bangkok, Thailand
[3] Faculty of Medicine, Research Center, Rama thibodi Hospital, Mahidol University, Bangkok, Thailand
[4] Faculty of Medicine, Division of Genetics, Department of Anatomy, Chulalongkorn University, Bangkok, Thailand
[5] Division of Cytogenetics, Department of Anatomy, Faculty of Medicine, Chiang Mai University, Bangkok, Thailand
[6] Center for Medical Genetics Research, Rajanukul Institute, Bangkok, Thailand - Conference title
- Facial and oral structures: molecular perspectives, October 22-23, 2005
- Conference name
- Annual Robert J. Gorlin Conference on Dysmorphology (13 ; 2005-10-22)
- Author (monograph)
- COHEN, M. Michael (Editor)1
[1] Department of Pediatrics, Dalhousie University, University Avenue, Halifax, Nova Scotia, Canada - Source
American journal of medical genetics. Part A. 2006, Vol 140, Num 23, pp 2598-2602, 5 p ; ref : 7 ref
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Conference Paper
- Language
- English
- Author keyword
- TGIF hypothyroidism longitudinally grooved nails mental retardation poorly developed frontal lobes single maxillary central incisor
- Keyword (fr)
- Arhinencéphalie Arriération mentale Association Délétion Gène contigu syndrome Hypothyroïdie Hypotrichose Lobe frontal Maxillaire Ongle Poil Sol Aberration chromosomique Déficience intellectuelle Encéphale pathologie Endocrinopathie Maladie congénitale Malformation Peau pathologie Système nerveux central pathologie Système nerveux pathologie Thyroïde pathologie Trouble développement
- Keyword (en)
- Arhinencephaly Mental retardation Association Deletion Contiguous gene syndrome Hypothyroidism Hypotrichosis Frontal lobe Maxillary Nail(anatomy) Hair Soils Chromosomal aberration Intellectual deficiency Cerebral disorder Endocrinopathy Congenital disease Malformation Skin disease Central nervous system disease Nervous system diseases Thyroid diseases Developmental disorder
- Keyword (es)
- Arrinoencefalia Retraso mental Asociación Deleción Síndrome de genes contiguos Hipotiroidismo Hipotricosis Lóbulo frontal Maxilar Uña Pelo Suelo Aberración cromosómica Deficiencia intelectual Encéfalo patología Endocrinopatía Enfermedad congénita Malformación Piel patología Sistema nervosio central patología Sistema nervioso patología Tiroides patología Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08H Hair and nails disorders
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C12 Intellectual deficiency
- Discipline
- Dermatology Medical genetics Neurology Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 18368032
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
10.1002/ajmg.a.31386 
https://dx.doi.org/10.1002/ajmg.a.31386
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31386\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"140\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2598\";s:8:\"\u0000*\u0000epage\";s:4:\"2602\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:10:\"KANTAPUTRA\";s:10:\"\u0000*\u0000aufirst\";s:9:\"Piranit N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"LIMWONGSE, Chanin\";i:1;s:27:\"TOCHAREONTANAPHOL, Chintana\";i:2;s:19:\"MUTIRANGURA, Apiwat\";i:3;s:14:\"MEVATEE, Umnat\";i:4;s:21:\"PRAPHANPHOJ, Verayuth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:71:\"Facial and oral structures: molecular perspectives, October 22-23, 2005\";s:8:\"\u0000*\u0000title\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";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:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31386\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"140\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2598\";s:8:\"\u0000*\u0000epage\";s:4:\"2602\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:10:\"KANTAPUTRA\";s:10:\"\u0000*\u0000aufirst\";s:9:\"Piranit N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"LIMWONGSE, Chanin\";i:1;s:27:\"TOCHAREONTANAPHOL, Chintana\";i:2;s:19:\"MUTIRANGURA, Apiwat\";i:3;s:14:\"MEVATEE, Umnat\";i:4;s:21:\"PRAPHANPHOJ, Verayuth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:71:\"Facial and oral structures: molecular perspectives, October 22-23, 2005\";s:8:\"\u0000*\u0000title\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";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:\"10.1002\/ajmg.a.31386\";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:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31386\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"140\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2598\";s:8:\"\u0000*\u0000epage\";s:4:\"2602\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:10:\"KANTAPUTRA\";s:10:\"\u0000*\u0000aufirst\";s:9:\"Piranit N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"LIMWONGSE, Chanin\";i:1;s:27:\"TOCHAREONTANAPHOL, Chintana\";i:2;s:19:\"MUTIRANGURA, Apiwat\";i:3;s:14:\"MEVATEE, Umnat\";i:4;s:21:\"PRAPHANPHOJ, Verayuth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:71:\"Facial and oral structures: molecular perspectives, October 22-23, 2005\";s:8:\"\u0000*\u0000title\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";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:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31386\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"140\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2598\";s:8:\"\u0000*\u0000epage\";s:4:\"2602\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:10:\"KANTAPUTRA\";s:10:\"\u0000*\u0000aufirst\";s:9:\"Piranit N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"LIMWONGSE, Chanin\";i:1;s:27:\"TOCHAREONTANAPHOL, Chintana\";i:2;s:19:\"MUTIRANGURA, Apiwat\";i:3;s:14:\"MEVATEE, Umnat\";i:4;s:21:\"PRAPHANPHOJ, Verayuth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:71:\"Facial and oral structures: molecular perspectives, October 22-23, 2005\";s:8:\"\u0000*\u0000title\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";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:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31386\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"140\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2598\";s:8:\"\u0000*\u0000epage\";s:4:\"2602\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:10:\"KANTAPUTRA\";s:10:\"\u0000*\u0000aufirst\";s:9:\"Piranit N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"LIMWONGSE, Chanin\";i:1;s:27:\"TOCHAREONTANAPHOL, Chintana\";i:2;s:19:\"MUTIRANGURA, Apiwat\";i:3;s:14:\"MEVATEE, Umnat\";i:4;s:21:\"PRAPHANPHOJ, Verayuth\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:71:\"Facial and oral structures: molecular perspectives, October 22-23, 2005\";s:8:\"\u0000*\u0000title\";s:112:\"Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletion\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";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
