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30 results for Diabetes+Insipidus,+Neurogenic+-+genetics

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ArticlesPeer ReviewedFull Text
Letter to the Editor: "Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus."
Author / Creator:Patti, Giuseppa ; Maghnie, Mohamad
Publisher:United States
Journal title:The journal of clinical endocrinology and metabolism, 2020-07, Vol.105 (7), p.e2675-e2676
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Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus
Author / Creator:García-Castaño, Alejandro ; Madariaga, Leire ; Pérez de Nanclares, Gustavo ; Vela, Amaia ; Rica, Itxaso ; Gaztambide, Sonia ; Martínez, Rosa ; Martinez de LaPiscina, Idoia ; Urrutia, Inés ; Aguayo, Anibal ; Velasco, Olaia ; Castaño, Luis
Publisher:United States
Journal title:The journal of clinical endocrinology and metabolism, 2020-07, Vol.105 (7), p.e2687-e2688
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Diabetes Insipidus – Diagnosis and Management
Author / Creator:Di Iorgi, Natascia ; Napoli, Flavia ; Allegri, Anna Elsa Maria ; Olivieri, Irene ; Bertelli, Enrica ; Gallizia, Annalisa ; Rossi, Andrea ; Maghnie, Mohamad
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2012-01, Vol.77 (2), p.69-84
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ArticlesPeer ReviewedFull Text
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus
Author / Creator:García-Castaño, Alejandro ; Madariaga, Leire ; Pérez de Nanclares, Gustavo ; Vela, Amaia ; Rica, Itxaso ; Gaztambide, Sonia ; Martínez, Rosa ; Martinez de LaPiscina, Idoia ; Urrutia, Inés ; Aguayo, Anibal ; Velasco, Olaia ; Castaño, Luis
Publisher:United States: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2020-04, Vol.105 (4), p.1112-1118
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Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus
Author / Creator:Tian, Dan ; Cen, Jing ; Nie, Min ; Gu, Feng
Publisher:Athens: D.A. Spandidos
Journal title:International journal of molecular medicine, 2016-10, Vol.38 (4), p.1243-1249
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A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing
Author / Creator:Kvistgaard, Helene ; Christensen, Jane H. ; Johansson, Jan-Ove ; Gregersen, Niels ; Siggaard Rittig, Charlotte ; Rittig, Søren ; Corydon, Thomas J.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neuroendocrinology, 2018-01, Vol.107 (2), p.167-180
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Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia
Author / Creator:Seo, Boo Kyeong ; Jeong, Seul Ah ; Cho, Jae Young ; Park, Ji Sook ; Seo, Ji-Hyun ; Park, Eun Sil ; Lim, Jae-Young ; Woo, Hyang-Ok ; Youn, Hee-Shang
Publisher:England: BioMed Central Ltd
Journal title:BMC endocrine disorders, 2020-05, Vol.20 (1), p.73-73, Article 73
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AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus
Author / Creator:Turkkahraman, Doga ; Saglar, Emel ; Karaduman, Tugce ; Mergen, Hatice
Publisher:New York: Springer US
Journal title:Pituitary, 2015-12, Vol.18 (6), p.898-904
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Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing
Author / Creator:Hrčková, Gabriela ; Jankó, Viktor ; Kytnarová, Jitka ; Čižmárová, Michaela ; Tesařová, Markéta ; Košťálová, Ľudmila ; Virgová, Daniela ; Dallos, Tomáš ; Hána, Václav ; Lebl, Jan ; Zeman, Jiří ; Kovács, László
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2016-09, Vol.175 (9), p.1199-1207
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A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient
Author / Creator:Sanyoura, May ; Woudstra, Cédric ; Halaby, George ; Baz, Patrick ; Senée, Valérie ; Guillausseau, Pierre-Jean ; Zalloua, Pierre ; Julier, Cécile
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.140-143
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ArticlesPeer ReviewedFull Text
Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism
Author / Creator:Tasdemir, Sener ; Sahin, Ibrahim ; Cayır, Atilla ; Doneray, Hakan ; Solomon, Benjamin D. ; Muenke, Maximilian ; Yuce, Ihsan ; Tatar, Abdulgani
Publisher:Germany: De Gruyter
Journal title:Journal of Pediatric Endocrinology & Metabolism, 2014-07, Vol.27 (7), p.777-781
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ArticlesPeer ReviewedFull Text
Hypoparathyroidism and central diabetes insipidus: in search of the link
Author / Creator:Eyal, Ori ; Oren, Asaf ; Jüppner, Harald ; Somech, Raz ; De Bellis, Annamaria ; Mannstadt, Michael ; Szalat, Auryan ; Bleiberg, Margalit ; Weisman, Yosef ; Weintrob, Naomi
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2014-12, Vol.173 (12), p.1731-1734
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A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons
Author / Creator:Russell, Theron A ; Ito, Masafumi ; Ito, Mika ; Yu, Richard N ; Martinson, Fred A ; Weiss, Jeffrey ; Jameson, J Larry
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2003-12, Vol.112 (11), p.1697-1706
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Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
Author / Creator:Brugnara, Milena ; Gaudino, Rossella ; Tedeschi, Silvana ; Syrèn, Marie-Louise ; Perrotta, Silverio ; Maines, Evelina ; Zaffanello, Marco
Publisher:Germany: De Gruyter
Journal title:Journal of Pediatric Endocrinology & Metabolism, 2014-09, Vol.27 (9), p.971-975
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A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred
Author / Creator:Birkegaard, Camilla ; Christensen, Jane H. ; Falorni, Alberto ; Marzotti, Stefania ; Minarelli, Viviana ; Gregersen, Niels ; Rittig, Søren
Publisher:Boston: Springer US
Journal title:Pituitary, 2013-06, Vol.16 (2), p.152-157
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Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
Author / Creator:Ghirardello, Stefano ; Dusi, Elisa ; Castiglione, Bianca ; Fumagalli, Monica ; Mosca, Fabio
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2014-09, Vol.40 (1), p.76-76, Article 76
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Hypothalamic pituitary complications in Kabuki syndrome
Author / Creator:Ito, Naoko ; Ihara, Kenji ; Tsutsumi, Yasushi ; Miyake, Noriko ; Matsumoto, Naomichi ; Hara, Toshiro
Publisher:Boston: Springer US
Journal title:Pituitary, 2013-06, Vol.16 (2), p.133-138
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Renal tubular disorders
Author / Creator:Walsh, Stephen B ; Unwin, Robert J
Publisher:London: Elsevier Ltd
Journal title:Clinical medicine (London, England), 2012-10, Vol.12 (5), p.476-479
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Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus
Author / Creator:Stephen, Matthew D. ; Fenwick, Raymond G. ; Brosnan, Patrick G.
Publisher:Boston: Springer US
Journal title:Pituitary, 2012-12, Vol.15 (Suppl 1), p.1-5
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Clinicopathological features and BRAF V600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis
Author / Creator:Huo, Zhen ; Lu, Tao ; Liang, Zhiyong ; Ping, Fan ; Shen, Jie ; Lu, Jingjing ; Ma, Wenbing ; Zhao, Dachun ; Zhong, Dingrong
Publisher:England
Journal title:Diagnostic pathology, 2016-10, Vol.11 (1), p.100
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Letter to the Editor: "Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus."

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Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

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Diabetes Insipidus – Diagnosis and Management

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Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus

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Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus

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A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing

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Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia

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AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus

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Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing

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A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

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Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism

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Hypoparathyroidism and central diabetes insipidus: in search of the link

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A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons

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Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus

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A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred

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Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

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Hypothalamic pituitary complications in Kabuki syndrome

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Renal tubular disorders

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

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Clinicopathological features and BRAF V600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis

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