✦ LIBER ✦

P0603 FAMILIAL NEUROHYPOPHYSEAL DIABETES INSIPIDUS: CLINIC AND GENETIC DIAGNOSIS

✍ Scribed by Marta Botas; Francisco Pomares; Luis López-Penabad; Jose Manuel Ruiz; Jose Ramón Dominguez; Jorge Peris; Philip Wikman; Ruth Cañizares; Jaime Merinio

Book ID: 117645904
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 118 KB
Volume: 20
Category: Article
ISSN: 0953-6205
DOI: 10.1016/s0953-6205(09)60622-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Utility of AVP gene testing in familial

Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus

✍ Sridhar Chitturi; Mark Harris; Michael J. Thomsett; Francis Bowling; Ivan McGown 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB

Expression of three different mutations

Expression of three different mutations in the arginine vasopressin gene suggests genotype–phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds : (Genotype–phenotype correlation in familial neurohypophyseal diabetes insipidus)

✍ Charlotte Siggaard; Jane H. Christensen; Thomas J. Corydon; Søren Rittig; Gary L 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 390 KB

Late-onset familial neurohypophyseal dia

Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene

✍ Johan Jendle; Jane H. Christensen; Helene Kvistgaard; Niels Gregersen; Søren Rit 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 278 KB

Diabetes insipidus: diagnosis and treatm

Diabetes insipidus: diagnosis and treatment of a complex disease.

✍ Makaryus, A. N; McFarlane, S. I 📂 Article 📅 2006 🏛 The Cleveland Clinic Foundation 🌐 English ⚖ 389 KB

Polyuria and polydipsia in a young child

Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus

✍ Matthew D. Stephen, Raymond G. Fenwick, Patrick G. Brosnan 📂 Article 📅 2010 🏛 Springer US 🌐 English ⚖ 206 KB

Impaired trafficking of mutated AVP proh

Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus

✍ Jane H. Christensen; Charlotte Siggaard; Thomas J. Corydon; Gary L. Robertson; N 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 274 KB