Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene
- Author
- KOPP, P1 ; ARSEVEN, O. K1 ; SABACAN, L1 ; KOTLAR, T1 ; DUPUIS, J2 ; CAVALIERE, H3 ; SANTOS, C. L. S3 ; JAMESON, J. L1 ; MEDEIROS-NETO, G3
[1] Division of Endocrinology, Metabolism & Molecular Medicine, Northwestern University, Chicago, United States
[2] Department of Preventive Medicine, Northwestern University, Chicago, United States
[3] Unidade de Tiroide, Hospital das Clinicas, University of Sao Paulo Medical School, Sao Paulo, Brazil - Source
The Journal of clinical endocrinology and metabolism. 1999, Vol 84, Num 1, pp 336-341 ; ref : 32 ref
- CODEN
- JCEMAZ
- ISSN
- 0021-972X
- Scientific domain
- Endocrinology; Nutrition, obesity, metabolic disorders
- Publisher
- Endocrine Society, Bethesda, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déterminisme génétique Etude comparative Etude familiale Gène Génotype Homme Mutation Pendred syndrome Phénocopie Phénotype Brésil Etats Unis Endocrinopathie Maladie héréditaire ORL pathologie Thyroïde pathologie Amérique du Nord Amérique du Sud Amérique
- Keyword (en)
- Genetic determinism Comparative study Family study Gene Genotype Human Mutation Pendred syndrome Phenocopy Phenotype Brazil United States Endocrinopathy Genetic disease ENT disease Thyroid diseases North America South America America
- Keyword (es)
- Determinismo genético Estudio comparativo Estudio familiar Gen Genotipo Hombre Mutación Pendred síndrome Fenocopia Fenotipo Brasil Estados Unidos Endocrinopatía Enfermedad hereditaria ORL patología Tiroides patología America del norte America del sur America
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics Tropical medicine
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1649986
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
Install on your browser
"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:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:9:\"\u0000*\u0000jtitle\";s:52:\"The Journal of clinical endocrinology and metabolism\";s:9:\"\u0000*\u0000stitle\";s:26:\"J. clin. endocrinol. metab\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"84\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"336\";s:8:\"\u0000*\u0000epage\";s:3:\"341\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0021-972X\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"KOPP\";s:10:\"\u0000*\u0000aufirst\";s:1:\"P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"ARSEVEN, O. K\";i:1;s:10:\"SABACAN, L\";i:2;s:9:\"KOTLAR, T\";i:3;s:9:\"DUPUIS, J\";i:4;s:12:\"CAVALIERE, H\";i:5;s:15:\"SANTOS, C. L. S\";i:6;s:13:\"JAMESON, J. L\";i:7;s:16:\"MEDEIROS-NETO, G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JCEMAZ\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:17:\"Endocrine Society\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:9:\"\u0000*\u0000jtitle\";s:52:\"The Journal of clinical endocrinology and metabolism\";s:9:\"\u0000*\u0000stitle\";s:26:\"J. clin. endocrinol. metab\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"84\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"336\";s:8:\"\u0000*\u0000epage\";s:3:\"341\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0021-972X\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"KOPP\";s:10:\"\u0000*\u0000aufirst\";s:1:\"P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"ARSEVEN, O. K\";i:1;s:10:\"SABACAN, L\";i:2;s:9:\"KOTLAR, T\";i:3;s:9:\"DUPUIS, J\";i:4;s:12:\"CAVALIERE, H\";i:5;s:15:\"SANTOS, C. L. S\";i:6;s:13:\"JAMESON, J. L\";i:7;s:16:\"MEDEIROS-NETO, G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JCEMAZ\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:17:\"Endocrine Society\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:9:\"\u0000*\u0000jtitle\";s:52:\"The Journal of clinical endocrinology and metabolism\";s:9:\"\u0000*\u0000stitle\";s:26:\"J. clin. endocrinol. metab\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"84\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"336\";s:8:\"\u0000*\u0000epage\";s:3:\"341\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0021-972X\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"KOPP\";s:10:\"\u0000*\u0000aufirst\";s:1:\"P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"ARSEVEN, O. K\";i:1;s:10:\"SABACAN, L\";i:2;s:9:\"KOTLAR, T\";i:3;s:9:\"DUPUIS, J\";i:4;s:12:\"CAVALIERE, H\";i:5;s:15:\"SANTOS, C. L. S\";i:6;s:13:\"JAMESON, J. L\";i:7;s:16:\"MEDEIROS-NETO, G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JCEMAZ\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:17:\"Endocrine Society\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:9:\"\u0000*\u0000jtitle\";s:52:\"The Journal of clinical endocrinology and metabolism\";s:9:\"\u0000*\u0000stitle\";s:26:\"J. clin. endocrinol. metab\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"84\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"336\";s:8:\"\u0000*\u0000epage\";s:3:\"341\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0021-972X\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"KOPP\";s:10:\"\u0000*\u0000aufirst\";s:1:\"P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"ARSEVEN, O. K\";i:1;s:10:\"SABACAN, L\";i:2;s:9:\"KOTLAR, T\";i:3;s:9:\"DUPUIS, J\";i:4;s:12:\"CAVALIERE, H\";i:5;s:15:\"SANTOS, C. L. S\";i:6;s:13:\"JAMESON, J. L\";i:7;s:16:\"MEDEIROS-NETO, G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JCEMAZ\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:17:\"Endocrine Society\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:9:\"\u0000*\u0000jtitle\";s:52:\"The Journal of clinical endocrinology and metabolism\";s:9:\"\u0000*\u0000stitle\";s:26:\"J. clin. endocrinol. metab\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"84\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"336\";s:8:\"\u0000*\u0000epage\";s:3:\"341\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0021-972X\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"KOPP\";s:10:\"\u0000*\u0000aufirst\";s:1:\"P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"ARSEVEN, O. K\";i:1;s:10:\"SABACAN, L\";i:2;s:9:\"KOTLAR, T\";i:3;s:9:\"DUPUIS, J\";i:4;s:12:\"CAVALIERE, H\";i:5;s:15:\"SANTOS, C. L. S\";i:6;s:13:\"JAMESON, J. L\";i:7;s:16:\"MEDEIROS-NETO, G\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JCEMAZ\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:156:\"Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:17:\"Endocrine Society\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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
