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1. Full Text Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing
by Hrčková, Gabriela and Jankó, Viktor and Kytnarová, Jitka and Čižmárová, Michaela and Tesařová, Markéta and Košťálová, Ľudmila and Virgová, Daniela and Dallos, Tomáš and Hána, Václav and Lebl, Jan and Zeman, Jiří and Kovács, László
European Journal of Pediatrics, ISSN 0340-6199, 9/2016, Volume 175, Issue 9, pp. 1199 - 1207
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare hereditary disorder with unknown prevalence characterized by arginine-vasopressin hormone (AVP)... 
Pediatrics | AVP gene | Medicine & Public Health | Water deprivation test | Mutation | Polyuria | FNDI | MANIFESTATION | VASOPRESSIN-NEUROPHYSIN-II | SIGNAL PEPTIDE MUTATION | AVP-NPII GENE | PEDIATRICS | IDENTIFICATION | ONSET | Brain - diagnostic imaging | Prevalence | Humans | Middle Aged | Infant | Male | Diabetes Insipidus, Neurogenic - epidemiology | Genetic Testing - methods | Czech Republic - epidemiology | Young Adult | Base Sequence | Aged, 80 and over | Arginine Vasopressin - genetics | Adult | Female | Polyuria - etiology | Child | Slovakia - epidemiology | Polydipsia - etiology | Magnetic Resonance Imaging | Diabetes Insipidus, Neurogenic - genetics | Adolescent | Age of Onset | Brain - pathology | Family | Heterozygote | Aged | Pituitary hormones | Analysis | Diabetes insipidus | Genetic screening | Prevalence studies (Epidemiology)
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2. Full Text Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations
by Bourdet, Karine and Vallette, Sophie and Deladoëy, Johnny and Van Vliet, Guy
Hormone Research in Paediatrics, ISSN 1663-2818, 05/2016, Volume 85, Issue 4, pp. 283 - 287
Background: Genetic cases of isolated central diabetes insipidus are rare, are mostly due to dominant AVP mutations and have a delayed onset of symptoms. Only... 
Novel Insights from Clinical Practice | Central diabetes insipidus | Compound heterozygosity | Molecular diagnosis | AVP mutations | Magnetic resonance imaging | Diabetes Insipidus - genetics | Point Mutation | Protein Precursors - genetics | RNA Splice Sites | Diabetes Insipidus - pathology | Neurophysins - genetics | Humans | Age of Onset | Vasopressins - genetics | Child, Preschool | Heterozygote | Male
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3. Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus
by Tian, D and Cen, J and Nie, M and Gu, F
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, ISSN 1107-3756, 10/2016, Volume 38, Issue 4, pp. 1243 - 1249
Familial neurohypophyseal diabetes insipidus (FNDI) is a genetic disorder presenting with polyuria and polydipsia and is caused by mutations in the arginine... 
MEDICINE, RESEARCH & EXPERIMENTAL | AVP-NPII | NEUROPHYSIN-II GENE | gene mutation | MISSENSE MUTATION | NEURONS | familial neurohypophyseal diabetes insipidus | CHINESE FAMILY | arginine vasopressin-neurophysin II gene
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4. Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP-NPII gene
by Yang, HB and Yan, KM and Wang, LJ and Gong, FY and Jin, ZM and Zhu, HJ
EXPERIMENTAL AND THERAPEUTIC MEDICINE, ISSN 1792-0981, 08/2019, Volume 18, Issue 2, pp. 1309 - 1314
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare single-gene disorder caused by mutations of the arginine vasopressin-neurophysin II (AVP-NPII)... 
nonsense mutation | MEDICINE, RESEARCH & EXPERIMENTAL | VASOPRESSIN GENE | NEUROPHYSIN-II GENE | AVP-NPII gene | MISSENSE MUTATION | neurohypophyseal diabetes insipidus | SECRETION | IDENTIFICATION | MOLECULAR ANALYSIS
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5. Full Text Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus
by Duzenli, Duygu and Saglar, Emel and Deniz, Ferhat and Azal, Omer and Erdem, Beril and Mergen, Hatice
Endocrine, ISSN 1355-008X, 12/2012, Volume 42, Issue 3, pp. 664 - 669
The aim of this study was to identify mutations in three different genes, the arginine-vasopressin-neurophysin II (AVP-NPII) gene, the arginine-vasopressin... 
AVP - NPII | Medicine & Public Health | Diabetes insipidus | AVPR2 | Internal Medicine | Diabetes | Mutation | AQP2 | Endocrinology | Science, general | AVP-NPII | SUBSTITUTION | NEUROPHYSIN-II | ENDOCRINOLOGY & METABOLISM | RECEPTOR | IDENTIFICATION | Humans | Child, Preschool | Diabetes Insipidus - diagnosis | Exons - genetics | Male | DNA - genetics | Diabetes Insipidus - genetics | Urodynamics | Young Adult | Mutation - physiology | Osmolar Concentration | Turkey - epidemiology | Neurophysins - genetics | Polymerase Chain Reaction | Receptors, Vasopressin - genetics | Adult | Heterozygote | Diabetes Insipidus - epidemiology | Water Deprivation | Aquaporin 2 - genetics
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6. Full Text AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus
by Turkkahraman, Doga and Saglar, Emel and Karaduman, Tugce and Mergen, Hatice
Pituitary, ISSN 1386-341X, 12/2015, Volume 18, Issue 6, pp. 898 - 904
Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin-neurophysin II (AVP-NPII) gene... 
Familial central diabetes insipidus | Diabetes | Mutation | Medicine & Public Health | Human Physiology | AVP-NPII gene | SWISS-MODEL | ARGININE-VASOPRESSIN | NEUROPHYSIN-II GENE | MUTANT VASOPRESSIN PRECURSORS | ENDOCRINOLOGY & METABOLISM | SECRETION | IDENTIFICATION | Diabetes Insipidus, Neurogenic - diagnosis | Protein Precursors - genetics | Diabetes Insipidus, Neurogenic - genetics | Neurophysins - genetics | Humans | Vasopressins - genetics | Adult | Female | Male | Mutation - genetics | Child | Anopheles | Gene mutations | Diabetes insipidus | Genes | Genetic research | Family | Genetic aspects | Genetic screening | Vasopressin | Neurophysiology
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7. Full Text Chemical chaperone 4-phenylbutylate reduces mutant protein accumulation in the endoplasmic reticulum of arginine vasopressin neurons in a mouse model for familial neurohypophysial diabetes insipidus
by Tochiya, Masayoshi and Hagiwara, Daisuke and Azuma, Yoshinori and Miyata, Takashi and Morishita, Yoshiaki and Suga, Hidetaka and Onoue, Takeshi and Tsunekawa, Taku and Takagi, Hiroshi and Ito, Yoshihiro and Iwama, Shintaro and Goto, Motomitsu and Banno, Ryoichi and Arima, Hiroshi
Neuroscience Letters, ISSN 0304-3940, 08/2018, Volume 682, pp. 50 - 55
Familial neurohypophysial diabetes insipidus (FNDI), characterized by progressive polyuria and loss of arginine vasopressin (AVP) neurons, is an autosomal... 
Familial neurohypophysial diabetes insipidus (FNDI) | Endoplasmic reticulum (ER) stress | 4-Phenylbutylate (4-PBA) | Endoplasmic reticulum-associated compartment (ERAC) | Arginine vasopressin (AVP) | VIVO | ER STRESS | NEUROSCIENCES | CELL-DEATH | IN-VITRO | TRANSPORT | DISEASES | GENE | DEHYDRATION | MICE | SODIUM 4-PHENYLBUTYRATE | Endoplasmic Reticulum - genetics | Mice, Inbred C57BL | Butylamines - pharmacology | Diabetes Insipidus, Neurogenic - metabolism | Endoplasmic Reticulum - metabolism | Male | Butylamines - therapeutic use | Mutation - physiology | Animals | Mutation - drug effects | Arginine Vasopressin - metabolism | Diabetes Insipidus, Neurogenic - genetics | Endoplasmic Reticulum - drug effects | Arginine Vasopressin - genetics | Mice | Neurons - metabolism | Diabetes Insipidus, Neurogenic - drug therapy | Neurons - drug effects | Disease Models, Animal | Proteins | Medical colleges | Arginine | Gene mutations | Neurons | Analysis | Diabetes insipidus | Neuropeptides | Genetic aspects | Vasopressin | Protein binding | Neurophysiology
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8. Full Text A missense mutation in the arginine‐vasopressin neurophysin‐II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family
by Ye, Dan and Dong, FengQin and Lu, WeiQin and Zhang, Zhe and Lu, XunLiang and Li, ChengJiang and Liu, YanNing
Clinical Endocrinology, ISSN 0300-0664, 06/2013, Volume 78, Issue 6, pp. 920 - 925
Summary Background Familial neurohypophyseal diabetes insipidus, an autosomal dominant disorder, is mostly caused by mutations in the genes that encode AVP or... 
PROGRESSIVE POLYURIA | SYSTEM | RARE | AVP GENE | MOUSE MODEL | DISEASE | ENDOCRINOLOGY & METABOLISM | ADULTS | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Male | Mutation, Missense | Saline Solution, Hypertonic | Osmolar Concentration | Arginine Vasopressin - metabolism | Diabetes Insipidus, Neurogenic - genetics | Kidney Concentrating Ability | Neurophysins - genetics | Pedigree | Adolescent | Age of Onset | Arginine Vasopressin - genetics | Female | Water Deprivation | Child | Pituitary hormones | Arginine | Invisibility | Diabetes insipidus | Genes | Genetic research | Family | Genetic aspects | Diabetes | Protein binding
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9. Full Text Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: A case report and review of the literature
by Neocleous, Vassos and Skordis, Nicos and Shammas, Christos and Efstathiou, Elisavet and Mastroyiannopoulos, Nikolaos P and Phylactou, Leonidas A
Metabolism, ISSN 0026-0495, 2012, Volume 61, Issue 7, pp. 922 - 930
Abstract X-linked nephrogenic diabetes insipidus (NDI) is a rare disease characterized by a malfunctioning renal response to the antidiuretic hormone arginine... 
Endocrinology & Metabolism | 1-desamino-8-d-arginine vasopressin | arginine vasopressin | NDI | AVP | DDAVP | nephrogenic diabetes insipidus | MUTANTS | RESCUE | GENE | VASOPRESSIN V2 RECEPTOR | TYPE-2 RECEPTOR | PHARMACOLOGICAL CHAPERONES | FAMILIES | ENDOCRINOLOGY & METABOLISM | FUNCTIONAL-CHARACTERIZATION | WATER CHANNEL | AQUAPORIN-2 | Humans | Molecular Sequence Data | Male | Mutation, Missense | Sequence Analysis, DNA | Genetic Diseases, X-Linked - diagnosis | Diabetes Insipidus, Nephrogenic - diagnosis | Deamino Arginine Vasopressin | Base Sequence | Diabetes Insipidus, Nephrogenic - genetics | Adolescent | Receptors, Vasopressin - genetics | Female | Genetic Diseases, X-Linked - genetics | Aged | Pituitary hormones | Diabetes insipidus | Analysis | Genes | Genetic research | Genetic aspects | Diabetes | Vasopressin | Index Medicus
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10. Full Text The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog
by Klein, Noreen and Kümmerer, Nadine and Hobernik, Dominika and Schneider, Dirk
FEBS Open Bio, ISSN 2211-5463, 2015, Volume 5, Issue 1, pp. 640 - 646
Several point mutations have been identified in human aquaporins, but their effects on the function of the respective aquaporins are mostly enigmatic. We... 
Activity | GlpF | Nephrogenic diabetes insipidus | Aquaporin | Protein oligomerization | PROTEIN | STABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | WATER CHANNELS | GLYCOSYLATION | AQUAGLYCEROPORIN GLPF | CONDUCTION | AQUAPORIN-2 | OLIGOMERIZATION | SELECTIVITY | MOLECULAR-MECHANISMS | Membranes | Oligomerization | Aquaporins | Diabetes insipidus | Glycerol | Kinases | Cell adhesion & migration | Proteins | Conserved sequence | Mutagenesis | Plasmids | Physiology | Diabetes | Mutation | Aquaporin 2
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11. Full Text Dilatative Uropathy as a Manifestation of Neurohypophyseal Diabetes Insipidus due to a Novel Mutation in the Arginine Vasopressin-Neurophysin-II Gene
by Lindenthal, V and Mainberger, A and Morris-Rosendahl, D. J and Löning, L and Mayer, W and Müller, H. L
Klinische Pädiatrie, ISSN 0300-8630, 12/2013, Volume 225, Issue 7, pp. 407 - 412
Abstract Background Polydypsia and polyuria are frequent symptoms in patients with sellar masses caused by neurohypophyseal diabetes insipidus. Autosomal... 
Case Report | AVP neurophysin-II gene mutation | clinical history | AVP gene testing | diabetes insipidus | hydronephrosis | pediatric neurooncology | SIGNAL | DIAGNOSIS | NONOBSTRUCTIVE HYDRONEPHROSIS | HEREDITARY | POSTERIOR PITUITARY | PEDIATRICS | ENDOPLASMIC-RETICULUM
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12. Full Text Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis
by Christensen, Jane H and Siggaard, Charlotte and Corydon, Thomas J and deSanctis, Luisa and Kovacs, Laszlo and Robertson, Gary L and Gregersen, Niels and Rittig, SØren
European Journal of Human Genetics, ISSN 1018-4813, 01/2004, Volume 12, Issue 1, pp. 44 - 51
Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by postnatal arginine vasopressin (AVP) deficiency resulting from mutations... 
Autosomal dominant | AVP gene | Neurohypophyseal | Mutation | Diabetes insipidus | Neurophysin II | diabetes insipidus | NEUROPHYSIN-II GENE | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | RECURRENT MUTATIONS | SINGLE-BASE SUBSTITUTION | neurohypophyseal | SECRETORY PATHWAY | mutation | SIGNAL PEPTIDE MUTATION | CODING REGION | GENETICS & HEREDITY | MISSENSE MUTATION | ENDOPLASMIC-RETICULUM | autosomal dominant | neurophysin II | HYPOTHALAMIC NEURONS | Diabetes Insipidus, Neurogenic - etiology | Genes, Dominant | Diabetes Insipidus, Neurogenic - genetics | Pedigree | Humans | Arginine Vasopressin - genetics | Child, Preschool | Female | Male | Sequence Analysis, DNA | Pediatrics | Translation | Disease | Peptides | Pituitary (posterior) | Argipressin | Diabetes mellitus | Translation initiation | Families & family life | Heredity | Neurophysin | Family medical history | Vasopressin | Proteins | Hospitals | Diabetes | Dimerization
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13. 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
by Rutishauser, Jonas and Kopp, Peter and Gaskill, Mary Beth and Kotlar, Thomas J and Robertson, Gary L
European Journal of Endocrinology, ISSN 0804-4643, 2002, Volume 146, Issue 5, pp. 649 - 656
Objective: To test further the hypothesis that autosomal dominant neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the... 
SIGNAL | ASYMPTOMATIC CARRIER | HEREDITARY | CODING REGION | ENDOCRINOLOGY & METABOLISM | ENDOPLASMIC-RETICULUM | AVP-NP-II | KINDREDS | IDENTIFICATION | PRECURSORS | CELL-LINE | Diabetes Insipidus - physiopathology | Base Sequence - genetics | Humans | Middle Aged | Diabetes Insipidus - diagnosis | Male | Mutation - genetics | Diabetes Insipidus - genetics | Pituitary Gland, Posterior - physiopathology | Magnetic Resonance Imaging | Genes, Dominant | Neurophysins - genetics | Pedigree | Adult | Heterozygote | Pituitary Gland, Posterior - pathology | Child | Amino Acid Substitution
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14. Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients
by Peralta-Leal, V and Duran-Gonzalez, J and Leal-Ugarte, E
REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, ISSN 0034-8376, 05/2008, Volume 60, Issue 3, pp. 255 - 262
Neurogenic diabetes insipidus (NDI) is a rare condition characterized by polyuria and polydipsia caused by deficient arginine vasopressin hormone production.... 
ASYMPTOMATIC CARRIER | diabetes insipidus | RECURRENT MUTATIONS | SINGLE-BASE SUBSTITUTION | AVP hormone | MOLECULAR ANALYSIS | mutation | MEDICINE, GENERAL & INTERNAL | SIGNAL PEPTIDE MUTATION | AVP-NPII gene | CODING REGION | MISSENSE MUTATION | AUTOSOMAL-DOMINANT | ENDOPLASMIC-RETICULUM | autosomal dominant | BRATTLEBORO RATS | Diabetes Insipidus, Neurogenic - etiology | Diabetes Insipidus, Neurogenic - diagnosis | Protein Precursors - genetics | Diabetes Insipidus, Neurogenic - genetics | Diabetes Insipidus, Neurogenic - physiopathology | Neurophysins - genetics | Humans | Vasopressins - genetics | Mutation
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15. Full Text A novel splice site mutation of the arginine vasopressin–neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus
by Tae, Hyun-Jung and Baek, Ki-Hyun and Shim, Sun-Mi and Yoo, Soon-Jib and Kang, Moo-Il and Kang, Sung-Koo and Cha, Bong-Yun and Lee, Kwang-Woo and Son, Ho-Young
Molecular Genetics and Metabolism, ISSN 1096-7192, 2005, Volume 86, Issue 1, pp. 307 - 313
Autosomal dominant familial neurohypophyseal diabetes insipidus is an inherited deficiency of arginine vasopressin (AVP), and this is caused by mutations in... 
Autosomal dominant | Neurohypophyseal diabetes insipidus | AVP–NP II gene | Splice site mutation | Intron | AVP-NP II gene | MEDICINE, RESEARCH & EXPERIMENTAL | amosomal dominant | DEFECTS | MOIETY | MECHANISM | BIOCHEMISTRY & MOLECULAR BIOLOGY | CHINESE FAMILY | SINGLE-BASE SUBSTITUTION | intron | SIGNAL PEPTIDE MUTATION | CODING REGION | GENETICS & HEREDITY | neurohypophyseal diabetes insipidus | POSTERIOR PITUITARY | ENDOPLASMIC-RETICULUM | splice site mutation | PRECURSORS | Amino Acid Sequence | Humans | Male | Pituitary Diseases - genetics | DNA Primers | Reverse Transcriptase Polymerase Chain Reaction | Diabetes Insipidus - genetics | RNA Splicing | Genes, Dominant | Electrophoresis, Agar Gel | Neurophysins - genetics | Pedigree | Base Sequence | Arginine Vasopressin - genetics | Female | Mutation | Medical colleges | Anopheles | Messenger RNA | Peptides | Arginine | Gene mutations | Analysis | Diabetes insipidus | Genetic research | Genetic aspects | Diabetes | Vasopressin
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16. Genetics of Diabetes Insipidus
by Schernthaner-Reiter, Marie Helene and Stratakis, Constantine A and Luger, Anton
Endocrinology and Metabolism Clinics of North America, ISSN 0889-8529, 06/2017, Volume 46, Issue 2, pp. 305 - 334
Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland... 
Arginine vasopressin receptor type 2 | Wolfram syndrome | Familial neurohypophyseal diabetes insipidus | Arginine vasopressin | Aquaporin 2 | Familial nephrogenic diabetes insipidus | SKEWED X-INACTIVATION | AVP-NPII GENE | AQUAPORIN-2 WATER-CHANNEL | SINGLE-BASE SUBSTITUTION | V2 RECEPTOR | ARGININE-VASOPRESSIN | VASOPRESSIN-NEUROPHYSIN-II | ENDOCRINOLOGY & METABOLISM | WILD-TYPE AQUAPORIN-2 | SPLICE-SITE MUTATION | MISSENSE MUTATION | Diabetes Insipidus - genetics | Pituitary Gland, Posterior - physiopathology | Arginine Vasopressin | Humans | Diabetes Insipidus - diagnosis | Diabetes Insipidus - therapy | Diabetes Insipidus, Nephrogenic
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17. Full Text Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus
by Lee, Yong-Wha and Kyung, Wook Lee and Ji, Won Ryu and Ji, Oh Mok and Ki, Chang-Seok and Hyeong, Kyu Park and Yeo, Joo Kim and Sang, Jin Kim and Dong, Won Byun and Kyo, Ill Suh and Myung, Hi Yoo and Hee, Bong Shin and You, Kyoung Lee and Kim, Chul-Hee
Annals of Clinical and Laboratory Science, ISSN 0091-7370, 12/2008, Volume 38, Issue 1, pp. 12 - 14
Familial neurohypophyseal diabetes insipidus (FNDI; OMIM 192340) is a rare inherited disorder with an autosomal dominant inheritance pattern. It is... 
Neurophysin | Arginine vasopressin | Diabetes insipidus | AVP-NPII gene | II GENE | arginine vasopressin | MEDICAL LABORATORY TECHNOLOGY | diabetes insipidus | neurophysin | Amino Acid Sequence | Glutamic Acid - genetics | Humans | Molecular Sequence Data | Male | Mutation - genetics | Carrier Proteins - metabolism | DNA Mutational Analysis | Diabetes Insipidus, Neurogenic - genetics | Neurophysins - genetics | Pedigree | Base Sequence | Adolescent | Arginine Vasopressin - genetics | Arginine Vasopressin - chemistry | Family | Female | Water Deprivation
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18. Full Text A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus
by Kobayashi, Hiromasa and Fujisawa, I and Ikeda, K and Son, C and Iwakura, T and Yoshimoto, A and Kasahara, M and Ishihara, T and Ogawa, Y
Journal of Endocrinological Investigation, ISSN 0391-4097, 03/2006, Volume 29, Issue 3, pp. 252 - 256
The autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by diverse mutations in one allele of the gene that encodes the arginine... 
AVP | Mutation | Neurophysin | Diabetes insipidus | Vasopressin | NEUROPHYSIN-II GENE | PRECURSOR | ENDOCRINOLOGY & METABOLISM | Amino Acid Sequence | Protein Precursors - genetics | Diabetes Insipidus, Neurogenic - pathology | Pituitary Gland - pathology | Humans | Japan | Vasopressins - genetics | Male | Hypothalamus - pathology | Mutation, Missense | Magnetic Resonance Imaging | Diabetes Insipidus, Neurogenic - genetics | Neurophysins - genetics | Pedigree | Base Sequence | Aged, 80 and over | Arginine Vasopressin - genetics | Arginine Vasopressin - chemistry | Heterozygote
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19. Full Text A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early‐onset neurohypophyseal diabetes insipidus
by Christensen, JH and Kvistgaard, H and Knudsen, J and Shaikh, G and Tolmie, J and Cooke, S and Pedersen, S and Corydon, TJ and Gregersen, N and Rittig, S
Clinical Genetics, ISSN 0009-9163, 01/2013, Volume 83, Issue 1, pp. 44 - 52
Christensen JH, Kvistgaard H, Knudsen J, Shaikh G, Tolmie J, Cooke S, Pedersen S, Corydon TJ, Gregersen N, Rittig S. A novel deletion partly removing the AVP... 
molecular genetics | sequence deletion | AVP gene | diabetes insipidus | autosomal recessive | neurohypophyseal | Neurohypophyseal | Autosomal recessive | Molecular genetics | Sequence deletion | Diabetes insipidus | GENETICS & HEREDITY | OXYTOCIN | DOMINANT | MUTATIONS | Protein Precursors - genetics | Humans | Vasopressins - genetics | Infant | Male | Genes, Recessive | Pregnancy | Diabetes Insipidus, Neurogenic - genetics | Diabetes Insipidus, Neurogenic - physiopathology | Neurophysins - genetics | Pedigree | Age of Onset | Alleles | Female | Heterozygote | Mutation | Infant, Newborn | Sequence Deletion - genetics | Anopheles | Analysis | Children's hospitals | Genes | Genetic research | Genetic transcription | Diabetes | Vasopressin
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