| 1 |
A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing. ( 29949799
)
|
Kvistgaard H...Corydon TJ
|
2018 |
| 2 |
The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants. ( 28494452
)
|
Toustrup LB...Christensen JH
|
2018 |
| 3 |
Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene. ( 28413003
)
|
Toustrup LB...Christensen JH
|
2017 |
| 4 |
Genetic forms of neurohypophyseal diabetes insipidus. ( 27156762
)
|
Rutishauser J...Kopp P
|
2016 |
| 5 |
A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus. ( 26208472
)
|
Ilhan M...Tasan E
|
2016 |
| 6 |
Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing. ( 27539621
)
|
Hr?kov? G...Kov?cs L
|
2016 |
| 7 |
Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus. ( 27513365
)
|
Tian D...Gu F
|
2016 |
| 8 |
Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature. ( 26233932
)
|
Koufaris C...Skordis N
|
2015 |
| 9 |
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family. ( 25654069
)
|
Kim MJ...Yoo JH
|
2014 |
| 10 |
Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus. ( 24825090
)
|
Brugnara M...Zaffanello M
|
2014 |
| 11 |
A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family. ( 23252994
)
|
Ye D...Liu Y
|
2013 |
| 12 |
A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. ( 22695750
)
|
Birkegaard C...Rittig S
|
2013 |
| 13 |
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus. ( 22168581
)
|
Christensen JH...Rittig S
|
2013 |
| 14 |
Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene. ( 24158882
)
|
Lindenthal V...M?ller HL
|
2013 |
| 15 |
Clinical review: Treatment of neurohypophyseal diabetes insipidus. ( 23884783
)
|
Oiso Y...Juul KV
|
2013 |
| 16 |
Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus. ( 20401697
)
|
Stephen MD...Brosnan PG
|
2012 |
| 17 |
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene. ( 22524462
)
|
Jendle J...Rittig S
|
2012 |
| 18 |
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. ( 22307687
)
|
Luo Y...Ma X
|
2012 |
| 19 |
Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene. ( 21498630
)
|
de Fost M...Fliers E
|
2011 |
| 20 |
Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene. ( 21088058
)
|
Brachet C...Rutishauser J
|
2011 |
| 21 |
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. ( 19897608
)
|
Abu Libdeh A...Zangen DH
|
2010 |
| 22 |
Autosomal dominant neurohypophyseal diabetes insipidus in two families. Molecular analysis of the vasopressin-neurophysin II gene and functional studies of three missense mutations. ( 19129716
)
|
Hedrich CM...Huebner A
|
2009 |
| 23 |
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. ( 19169480
)
|
Melo ME...Knoepfelmacher M
|
2008 |
| 24 |
Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal. ( 20960625
)
|
Bruggeman EJ
|
2008 |
| 25 |
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. ( 18494865
)
|
Chitturi S...Cotterill AM
|
2008 |
| 26 |
Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus. ( 18316776
)
|
Lee YW...Kim CH
|
2008 |
| 27 |
[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients]. ( 18807739
)
|
Peralta-Leal V...Leal-Ugarte E
|
2008 |
| 28 |
A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus. ( 16682840
)
|
Kobayashi H...Ogawa Y
|
2006 |
| 29 |
Familial neurohypophyseal diabetes insipidus--an update. ( 16713494
)
|
Christensen JH...Rittig S
|
2006 |
| 30 |
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561. ( 17297717
)
|
Abbes AP...Bruggeman EJ
|
2006 |
| 31 |
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560. ( 17297716
)
|
Abbes AP...Gregory JW
|
2006 |
| 32 |
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559. ( 17297715
)
|
Abbes AP...Franken AA
|
2006 |
| 33 |
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558. ( 17297714
)
|
Abbes AP...Franken AA
|
2006 |
| 34 |
A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus. ( 16006166
)
|
Tae HJ...Kang SK
|
2005 |
| 35 |
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. ( 16060916
)
|
Siggaard C...Pedersen EB
|
2005 |
| 36 |
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. ( 15811933
)
|
Ye L...Ning G
|
2005 |
| 37 |
Autophagy is a prosurvival mechanism in cells expressing an autosomal dominant familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. ( 15781609
)
|
Castino R...Murphy D
|
2005 |
| 38 |
Autophagy-dependent cell survival and cell death in an autosomal dominant familial neurohypophyseal diabetes insipidus in vitro model. ( 15781608
)
|
Castino R...Murphy D
|
2005 |
| 39 |
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. ( 14673472
)
|
Christensen JH...Rittig S
|
2004 |
| 40 |
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. ( 14678298
)
|
Christensen JH...Rittig S
|
2004 |
| 41 |
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. ( 15070970
)
|
Wahlstrom JT...Kovacs WJ
|
2004 |
| 42 |
Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus. ( 15644573
)
|
Miyakoshi M...Oiso Y
|
2004 |
| 43 |
Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. ( 15356057
)
|
Christensen JH...Rittig S
|
2004 |
| 44 |
Autosomal dominant familial neurohypophyseal diabetes insipidus. ( 12874957
)
|
Christensen JH...Rittig S
|
2003 |
| 45 |
A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. ( 12931042
)
|
Wolf MT...Rascher W
|
2003 |
| 46 |
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. ( 14510916
)
|
Elias PC...Castro M
|
2003 |
| 47 |
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. ( 14660745
)
|
Russell TA...Jameson JL
|
2003 |
| 48 |
Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene. ( 11980620
)
|
Rutishauser J...Robertson GL
|
2002 |
| 49 |
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor. ( 12107248
)
|
Rittig S...Robertson GL
|
2002 |
| 50 |
Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. ( 11836335
)
|
Mahoney CP...Ito M
|
2002 |
