Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus
- Auteur
- FAERCH, Mia1 2 ; CORYDON, Thomas J1 ; RITTIG, SØren2 ; CHRISTENSEN, Jane H1 2 ; HERTZ, Jens Michael3 ; JENDLE, Johan4
[1] Department of Human Genetics, Aarhus University, Denmark
[2] Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark
[3] Department of Clinical Genetics, Aarhus University Hospital, Denmark
[4] Faculty of Health Sciences, Örebro University Hospital, Sweden - Source
Scandinavian journal of urology and nephrology. 2010, Vol 44, Num 5, pp 324-330, 7 p ; ref : 25 ref
- CODEN
- SJUNAS
- ISSN
- 0036-5599
- Domaine scientifique
- Urology, nephrology
- Editeur
- Taylor & Francis, Basingstoke
- Pays de publication
- United Kingdom
- Type de document
- Article
- Langue
- English
- Mot clé auteur
- Arginine vasopressin receptor 2 congenital nephrogenic diabetes insipidus phenotype skewed X-chromosome inactivation
- Mot clé (fr)
- Arginine Chromosome X Congénital Diabète insipide néphrogénique Diagnostic Inactivation Néphrologie Phénotype Récepteur biologique Urologie Vasopressine Aminoacide Hormone neurohypophysaire Neuropeptide Pathologie de l'appareil urinaire Pathologie du rein
- Mot clé (en)
- Arginine X-Chromosome Congenital Nephrogenic diabetes insipidus Diagnosis Inactivation Nephrology Phenotype Biological receptor Urology Vasopressin Aminoacid Neurohypophyseal hormone Neuropeptide Urinary system disease Kidney disease
- Mot clé (es)
- Arginina Cromosoma X Congénito Diabetes insípida nefrogenica Diagnóstico Inactivación Nefrología Fenotipo Receptor biológico Urología Vasopresina Aminoácido Hormona neurohipofisaria Neuropéptido Aparato urinario patología Riñón patología
- Classification
- Pascal
- 002 Sciences biologiques et medicales / 002B Sciences medicales / 002B14 Nephrologie. Maladies des voies urinaires / 002B14E Appareil urinaire et pathologie générale. Divers / 002B14E01 Reins
- Discipline
- Nephrology. Urinary tract diseases
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 23328975
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
Accès au Document
Installer sur votre navigateur
DOI
10.3109/00365599.2010.482946 
https://dx.doi.org/10.3109/00365599.2010.482946
"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:28:\"10.3109\/00365599.2010.482946\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:9:\"\u0000*\u0000jtitle\";s:46:\"Scandinavian journal of urology and nephrology\";s:9:\"\u0000*\u0000stitle\";s:23:\"Scand. j. urol. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"2010\";s:9:\"\u0000*\u0000volume\";s:2:\"44\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"324\";s:8:\"\u0000*\u0000epage\";s:3:\"330\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0036-5599\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"FAERCH\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Mia\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"CORYDON, Thomas J\";i:1;s:14:\"RITTIG, S\u00d8ren\";i:2;s:19:\"CHRISTENSEN, Jane H\";i:3;s:19:\"HERTZ, Jens Michael\";i:4;s:13:\"JENDLE, Johan\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"SJUNAS\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:16:\"Taylor & Francis\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par Panist
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.3109\/00365599.2010.482946\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:9:\"\u0000*\u0000jtitle\";s:46:\"Scandinavian journal of urology and nephrology\";s:9:\"\u0000*\u0000stitle\";s:23:\"Scand. j. urol. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"2010\";s:9:\"\u0000*\u0000volume\";s:2:\"44\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"324\";s:8:\"\u0000*\u0000epage\";s:3:\"330\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0036-5599\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"FAERCH\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Mia\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"CORYDON, Thomas J\";i:1;s:14:\"RITTIG, S\u00d8ren\";i:2;s:19:\"CHRISTENSEN, Jane H\";i:3;s:19:\"HERTZ, Jens Michael\";i:4;s:13:\"JENDLE, Johan\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"SJUNAS\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:16:\"Taylor & Francis\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par Istex
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:28:\"10.3109\/00365599.2010.482946\";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;}"
Accès par Unpaywall
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.3109\/00365599.2010.482946\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:9:\"\u0000*\u0000jtitle\";s:46:\"Scandinavian journal of urology and nephrology\";s:9:\"\u0000*\u0000stitle\";s:23:\"Scand. j. urol. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"2010\";s:9:\"\u0000*\u0000volume\";s:2:\"44\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"324\";s:8:\"\u0000*\u0000epage\";s:3:\"330\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0036-5599\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"FAERCH\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Mia\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"CORYDON, Thomas J\";i:1;s:14:\"RITTIG, S\u00d8ren\";i:2;s:19:\"CHRISTENSEN, Jane H\";i:3;s:19:\"HERTZ, Jens Michael\";i:4;s:13:\"JENDLE, Johan\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"SJUNAS\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:16:\"Taylor & Francis\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par Europe PubMed Central
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.3109\/00365599.2010.482946\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:9:\"\u0000*\u0000jtitle\";s:46:\"Scandinavian journal of urology and nephrology\";s:9:\"\u0000*\u0000stitle\";s:23:\"Scand. j. urol. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"2010\";s:9:\"\u0000*\u0000volume\";s:2:\"44\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"324\";s:8:\"\u0000*\u0000epage\";s:3:\"330\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0036-5599\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"FAERCH\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Mia\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"CORYDON, Thomas J\";i:1;s:14:\"RITTIG, S\u00d8ren\";i:2;s:19:\"CHRISTENSEN, Jane H\";i:3;s:19:\"HERTZ, Jens Michael\";i:4;s:13:\"JENDLE, Johan\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"SJUNAS\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:16:\"Taylor & Francis\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par Base Search
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.3109\/00365599.2010.482946\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:9:\"\u0000*\u0000jtitle\";s:46:\"Scandinavian journal of urology and nephrology\";s:9:\"\u0000*\u0000stitle\";s:23:\"Scand. j. urol. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"2010\";s:9:\"\u0000*\u0000volume\";s:2:\"44\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"324\";s:8:\"\u0000*\u0000epage\";s:3:\"330\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0036-5599\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"FAERCH\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Mia\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:5:{i:0;s:17:\"CORYDON, Thomas J\";i:1;s:14:\"RITTIG, S\u00d8ren\";i:2;s:19:\"CHRISTENSEN, Jane H\";i:3;s:19:\"HERTZ, Jens Michael\";i:4;s:13:\"JENDLE, Johan\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"SJUNAS\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:114:\"Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus\";s:8:\"\u0000*\u0000place\";s:11:\"Basingstoke\";s:6:\"\u0000*\u0000pub\";s:16:\"Taylor & Francis\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par arXiv
