The Clinical Spectrum of Homozygous HOXA1 Mutations
- Author
- BOSLEY, Thomas M1 ; ALORAINY, Ibrahim A2 ; SATIN, Mustafa A3 ; ALDHALAAN, Hesham M4 ; ABU-AMERO, Khaled K5 ; OYSTRECK, Darren T1 ; TISCHFIELD, Max A6 ; ENGLE, Elizabeth C6 ; ERICKSON, Robert P7
[1] Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, South Africa
[2] Department of Radiology, King Khalid University Hospital, King Saud University, Riyadh, South Africa
[3] Division of Pediatric Neurology, King Khalid University Hospital, King Saud University, Riyadh, South Africa
[4] Department of Neuroscience, King Faisal Specialist Hospital and Research Centre, Riyadh, South Africa
[5] Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, South Africa
[6] Department of Neurology and Program in Genomics, Children's Hospital Boston, and Program in Neuroscience, Harvard Medical School, Boston, Massachusetts, United States
[7] Department of Pediatrics and Steele Memorial Children's Research Center, University of Arizona College of Medicine, Tucson, Arizona, United States - Source
American journal of medical genetics. Part A. 2008, Vol 146, Num 10, pp 1235-1240, 6 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- ABDS BSAS Duane syndrome HOXA1 cerebrovascular malformation deafness
- Keyword (fr)
- Homozygotie Malformation Mutation Phénotype Surdité Syndrome Pathologie ORL Trouble de l'audition
- Keyword (en)
- Homozygosity Malformation Mutation Phenotype Hearing loss Syndrome ENT disease Auditory disorder
- Keyword (es)
- Homocigosis Malformación Mutación Fenotipo Sordera Síndrome ORL patología Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- Discipline
- Medical genetics Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20320455
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.32262 
https://dx.doi.org/10.1002/ajmg.a.32262
"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:\"10.1002\/ajmg.a.32262\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"146\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1235\";s:8:\"\u0000*\u0000epage\";s:4:\"1240\";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:6:\"BOSLEY\";s:10:\"\u0000*\u0000aufirst\";s:8:\"Thomas M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:19:\"ALORAINY, Ibrahim A\";i:1;s:16:\"SATIN, Mustafa A\";i:2;s:19:\"ALDHALAAN, Hesham M\";i:3;s:19:\"ABU-AMERO, Khaled K\";i:4;s:18:\"OYSTRECK, Darren T\";i:5;s:17:\"TISCHFIELD, Max A\";i:6;s:18:\"ENGLE, Elizabeth C\";i:7;s:18:\"ERICKSON, Robert P\";}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:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"6\";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:\"10.1002\/ajmg.a.32262\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"146\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1235\";s:8:\"\u0000*\u0000epage\";s:4:\"1240\";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:6:\"BOSLEY\";s:10:\"\u0000*\u0000aufirst\";s:8:\"Thomas M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:19:\"ALORAINY, Ibrahim A\";i:1;s:16:\"SATIN, Mustafa A\";i:2;s:19:\"ALDHALAAN, Hesham M\";i:3;s:19:\"ABU-AMERO, Khaled K\";i:4;s:18:\"OYSTRECK, Darren T\";i:5;s:17:\"TISCHFIELD, Max A\";i:6;s:18:\"ENGLE, Elizabeth C\";i:7;s:18:\"ERICKSON, Robert P\";}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:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"6\";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.32262\";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:\"10.1002\/ajmg.a.32262\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"146\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1235\";s:8:\"\u0000*\u0000epage\";s:4:\"1240\";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:6:\"BOSLEY\";s:10:\"\u0000*\u0000aufirst\";s:8:\"Thomas M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:19:\"ALORAINY, Ibrahim A\";i:1;s:16:\"SATIN, Mustafa A\";i:2;s:19:\"ALDHALAAN, Hesham M\";i:3;s:19:\"ABU-AMERO, Khaled K\";i:4;s:18:\"OYSTRECK, Darren T\";i:5;s:17:\"TISCHFIELD, Max A\";i:6;s:18:\"ENGLE, Elizabeth C\";i:7;s:18:\"ERICKSON, Robert P\";}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:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"6\";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:\"10.1002\/ajmg.a.32262\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"146\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1235\";s:8:\"\u0000*\u0000epage\";s:4:\"1240\";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:6:\"BOSLEY\";s:10:\"\u0000*\u0000aufirst\";s:8:\"Thomas M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:19:\"ALORAINY, Ibrahim A\";i:1;s:16:\"SATIN, Mustafa A\";i:2;s:19:\"ALDHALAAN, Hesham M\";i:3;s:19:\"ABU-AMERO, Khaled K\";i:4;s:18:\"OYSTRECK, Darren T\";i:5;s:17:\"TISCHFIELD, Max A\";i:6;s:18:\"ENGLE, Elizabeth C\";i:7;s:18:\"ERICKSON, Robert P\";}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:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"6\";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:\"10.1002\/ajmg.a.32262\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"2008\";s:9:\"\u0000*\u0000volume\";s:3:\"146\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1235\";s:8:\"\u0000*\u0000epage\";s:4:\"1240\";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:6:\"BOSLEY\";s:10:\"\u0000*\u0000aufirst\";s:8:\"Thomas M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:19:\"ALORAINY, Ibrahim A\";i:1;s:16:\"SATIN, Mustafa A\";i:2;s:19:\"ALDHALAAN, Hesham M\";i:3;s:19:\"ABU-AMERO, Khaled K\";i:4;s:18:\"OYSTRECK, Darren T\";i:5;s:17:\"TISCHFIELD, Max A\";i:6;s:18:\"ENGLE, Elizabeth C\";i:7;s:18:\"ERICKSON, Robert P\";}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:51:\"The Clinical Spectrum of Homozygous HOXA1 Mutations\";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:\"6\";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
