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Items: 1 to 20 of 127

1.

Late onset of familial neurogenic diabetes insipidus in monozygotic twins.

Cizmarova M, Nagyova G, Janko V, Pribilincova Z, Virgova D, Ilencikova D, Kovacs L.

Endocr Regul. 2013 Oct;47(4):211-6.

PMID:
24156710
2.

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

Birkegaard C, Christensen JH, Falorni A, Marzotti S, Minarelli V, Gregersen N, Rittig S.

Pituitary. 2013 Jun;16(2):152-7. doi: 10.1007/s11102-012-0392-x.

PMID:
22695750
3.

Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus.

Miyakoshi M, Kamoi K, Murase T, Sugimura Y, Oiso Y.

Endocr J. 2004 Dec;51(6):551-6.

4.

A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family.

Ye D, Dong F, Lu W, Zhang Z, Lu X, Li C, Liu Y.

Clin Endocrinol (Oxf). 2013 Jun;78(6):920-5. doi: 10.1111/cen.12129.

PMID:
23252994
6.

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

Turkkahraman D, Saglar E, Karaduman T, Mergen H.

Pituitary. 2015 Dec;18(6):898-904. doi: 10.1007/s11102-015-0668-z.

PMID:
26134705
7.

A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus.

Christensen JH, Kvistgaard H, Knudsen J, Shaikh G, Tolmie J, Cooke S, Pedersen S, Corydon TJ, Gregersen N, Rittig S.

Clin Genet. 2013 Jan;83(1):44-52. doi: 10.1111/j.1399-0004.2011.01833.x. Epub 2012 Jan 17.

PMID:
22168581
8.

Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature.

Koufaris C, Alexandrou A, Sismani C, Skordis N.

Hormones (Athens). 2015 Jul-Sep;14(3):442-6. doi: 10.14310/horm.2002.1604. Review.

9.

[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients].

Peralta-Leal V, Durán-González J, Leal-Ugarte E.

Rev Invest Clin. 2008 May-Jun;60(3):255-62. Review. Spanish.

PMID:
18807739
10.

Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene.

Elias PC, Elias LL, Torres N, Moreira AC, Antunes-Rodrigues J, Castro M.

Clin Endocrinol (Oxf). 2003 Oct;59(4):511-8.

PMID:
14510916
11.

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

Jendle J, Christensen JH, Kvistgaard H, Gregersen N, Rittig S.

Clin Endocrinol (Oxf). 2012 Oct;77(4):586-92. doi: 10.1111/j.1365-2265.2012.04417.x.

PMID:
22524462
12.

A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus.

Kobayashi H, Fujisawa I, Ikeda K, Son C, Iwakura T, Yoshimoto A, Kasahara M, Ishihara T, Ogawa Y.

J Endocrinol Invest. 2006 Mar;29(3):252-6.

PMID:
16682840
13.

Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.

Rittig S, Siggaard C, Ozata M, Yetkin I, Gregersen N, Pedersen EB, Robertson GL.

J Clin Endocrinol Metab. 2002 Jul;87(7):3351-5.

PMID:
12107248
14.

Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus.

Lee YW, Lee KW, Ryu JW, Mok JO, Ki CS, Park HK, Kim YJ, Kim SJ, Byun DW, Suh KI, Yoo MH, Shin HB, Lee YK, Kim CH.

Ann Clin Lab Sci. 2008 Winter;38(1):12-4.

PMID:
18316776
15.

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.

Perrotta S, Di Iorgi N, Ragione FD, Scianguetta S, Borriello A, Allegri AE, Ferraro M, Santoro C, Napoli F, Calcagno A, Giaccardi M, Cappa M, Salerno MC, Cozzolino D, Maghnie M.

Eur J Endocrinol. 2015 Apr;172(4):461-72. doi: 10.1530/EJE-14-0942.

16.

Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy.

Abu Libdeh A, Levy-Khademi F, Abdulhadi-Atwan M, Bosin E, Korner M, White PC, Zangen DH.

Eur J Endocrinol. 2010 Feb;162(2):221-6. doi: 10.1530/EJE-09-0772. Epub 2009 Nov 6.

17.

Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene.

Brachet C, Birk J, Christophe C, Tenoutasse S, Velkeniers B, Heinrichs C, Rutishauser J.

Eur J Endocrinol. 2011 Feb;164(2):179-87. doi: 10.1530/EJE-10-0823. Epub 2010 Nov 18.

18.

Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene.

Ye L, Li X, Chen Y, Sun H, Wang W, Su T, Jiang L, Cui B, Ning G.

J Clin Endocrinol Metab. 2005 Jul;90(7):4388-93. Epub 2005 Apr 5.

PMID:
15811933
19.
20.

Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene.

Luo Y, Wang B, Qiu Y, Zhang C, Jin C, Zhao Y, Zhu Q, Ma X.

Endocrine. 2012 Aug;42(1):208-13. doi: 10.1007/s12020-012-9606-2. Epub 2012 Feb 4.

PMID:
22307687
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