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185 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Disease     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000001 Bahnsen et al. (1992) F - Dutch Member of 5-generation family with data on 6 individuals (4 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000002 Yuasa et al. (1993) M - Japanese Member of a 3-generation family with data on 4 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000003 Nagasaki et al. (1995) M - Japanese Member of 3-generation family with data on 2 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000004 Nagasaki et al. (1995) F - Japanese Member of 3-generation family data on 2 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000005 Calvo et al. (1998) M - Spanish Member of 3-generation family with 3 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000006 Calvo et al. (1998) M - Spanish Member of 3-generation family with 4 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000007 Calvo et al. (1999) M - Spanish Member of 3-generation family with data on 3 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000008 Boson et al. (2003) F - - Twin girls adopted at 8 months; data on both twins. NDI-AVP AVP AVP 1 1 LOVD
00000009 Ito et al. (1993), Repaske et al. (1996) F - Japanese Member of 4-generation family with data on 3 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000010 Davies et al. (2005) F - - Member of 5-generation family with data on 2 affected individuals. Live in same region as Family-2/Case-3 but not known to be related. NDI-AVP AVP AVP 1 1 LOVD
00000011 Davies et al. (2005) F - - Member of 5-generation family with data on 1 affected individual. Lives in same region as Family-1/Case-1 but not known to be related. NDI-AVP AVP AVP 1 1 LOVD
00000012 Heppner et al. (1998) F (Germany) - Member of 3-generation family with data on 7 individuals (6 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000013 Heppner et al. (1998) M - German Member of a 3-generation family with data on 7 individuals (3 affected, 4 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000014 Gagliardi et al. (1997) F - Italian - NDI-AVP AVP AVP 1 1 LOVD
00000015 Ito et al. (1991), Repaske et al. (1996) F (Japan) Japanese - NDI-AVP AVP AVP 1 1 LOVD
00000016 Rauch et al. (1996) M - German Member of 3-generation family with data on 8 individuals (6 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000017 Repaske & Browning (1994), Repaske et al. (1996) F (USA) Caucasian Member of 3-generation family with data on 7 individuals (3 affected, 3 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000018 Rittig et al. (1996) - - Danish - NDI-AVP AVP AVP 1 1 LOVD
00000019 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000020 Rittig et al. (1996) - - Israeli - NDI-AVP AVP AVP 1 1 LOVD
00000021 Rittig et al. (1996) - - Austrian - NDI-AVP AVP AVP 1 1 LOVD
00000022 Rittig et al. (1996) - - English - NDI-AVP AVP AVP 1 1 LOVD
00000023 Rittig et al. (1996) - - Danish - NDI-AVP AVP AVP 1 1 LOVD
00000024 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000025 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000026 Rittig et al. (1996) - - Norwegian - NDI-AVP AVP AVP 1 1 LOVD
00000027 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000028 Rittig et al. (1996) - - Danish - NDI-AVP AVP AVP 1 1 LOVD
00000029 Rittig et al. (1996) - - French - NDI-AVP AVP AVP 1 1 LOVD
00000030 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000031 Rittig et al. (2002) F - Turkish Member of 3-generation family with data on 7 individuals (4 affected, 3 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000032 Rutishauser et al. (1996) F (Switzerland) - Member of 4-generation family with data on 9 individuals (7 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000033 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000034 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000035 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000036 Rittig et al. (1996) - - American - NDI-AVP AVP AVP 1 1 LOVD
00000037 Christensen et al. (2004) - Belgium Caucasian No family history of adFNDI reported; data on one affected individual. NDI-AVP AVP AVP 1 1 LOVD
00000038 Christensen et al. (2004) - Czechoslovakia Caucasian Member of 4-generation family with data on 3 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000039 Christensen et al. (2004) - USA Asian Member of 4-generation family with data on 1 affected individual; unusual pattern; proband apparently inherited mutation from his mother although neither maternal grandparent had a history of polyuria; brother of maternal grandmother was affected. NDI-AVP AVP AVP 1 1 LOVD
00000040 Christensen et al. (2004) - Sweden Caucasian Nuclear family with data on 4 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000041 Christensen et al. (2004) - Czechoslovakia Caucasian Member of 5-generation family with data on 3 affected and 3 unaffected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000042 Christensen et al. (2004) - Italy Caucasian Nuclear family with data on 2 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000043 Christensen et al. (2004) - Germany Caucasian No proband; 4-generation family with data on 2 affected and 2 unaffected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000044 Christensen et al. (2004) - New Zealand Caucasian Family history but no pedigree; data on one affected individual. NDI-AVP AVP AVP 1 1 LOVD
00000045 Christensen et al. (2004) - Germany Caucasian No proband; 4-generation family with data on 2 affected and 1 unaffected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000046 Christensen et al. (2004) - USA Caucasian No proband; family history but no pedigree; data on one affected individual. NDI-AVP AVP AVP 1 1 LOVD
00000047 Christensen et al. (2004) - USA Caucasian Family history but no pedigree; data on one affected individual. NDI-AVP AVP AVP 1 1 LOVD
00000048 Christensen et al. (2004) - Austria Caucasian No proband; 5-generation family with data on 4 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000049 Christensen et al. (2004) - Norway Caucasian Member of 4-generation family with data on 1 affected individual. NDI-AVP AVP AVP 1 1 LOVD
00000050 Christensen et al. (2004) - Czechoslovakia Caucasian No proband; nuclear family with data on 2 affected and 2 unaffected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000051 Christensen et al. (2004) - Austria Caucasian Member of 4-generation family with data on 1 individual with no clinical studies. NDI-AVP AVP AVP 1 1 LOVD
00000052 Tae et al. (2005) F - Korean Member of 3-generation family with data on 3 affected individuals. NDI-AVP - AVP 1 1 LOVD
00000053 DiMeglio et al. (2001) F - - Member of 3-generation family with data on 5 individuals (3 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000054 Elias et al. (2003) M - Brazilian Member of 3-generation family with data on 5 individuals (4 affected, 1 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000055 Flück et al. (2001) F - Swiss Member of 4-generation family with data on 5 individuals (3 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000056 Fujii et al. (200) M (Japan) - Member of 3-generation family with data on 5 individuals (3 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000057 Goking et al. (2001): J of Endocrine Genetics 2:105-113 F USA Caucasian Member of 4-generation family with data on 9 individuals (6 affected, 3 unaffected. NDI-AVP AVP AVP 1 1 LOVD
00000058 Grant et al. (1998) M (USA) - Member of 6-generation family with data on 9 individuals (5 affected, 4 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000059 Grant et al. (1998) M (USA) - Member of 3-generation family with data on 5 individuals (3 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000060 Hansen et al. (1997): Trends Endocrinol Metab 8:363-372 - - - - NDI-AVP AVP AVP 1 1 LOVD
00000061 Kanemitsu et al. (2002) M (Japan) - Member of 4-generation family with data on 6 individuals (3 affected,1 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000062 McLeod et al. (1992), Krishnamani et al. (1993}, Repaske et al. (1996 F USA Caucasian Lab ID also FIII-8 or P. Member of 4-generation family with data on 35 individuals (12 affected, 19 unaffected, 4 unknown). NDI-AVP AVP AVP 1 1 LOVD
00000063 Abu Libdeh et al. (2010) - Palestine - 5-generation pedigree with 3 affected cousins. Assumed to be related to Arab family in Willcutts et al. (1999) based on haplotype analysis. NDI-AVP AVP AVP 2 1 LOVD
00000064 Mundschenk et al. (2001) M - - Member of 3-generation family with data on 6 individuals (4 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000065 Repaske et al. (1996) - Argentina European 3-generation family with data on 6 individuals (4 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000066 Repaske et al. (1990), Repaske et al. (1996) F (USA) Caucasian 1.III-2 is a member of a 4-generation family which includes subset in Family-H which is 3-generation family with data on 5 individuals (4 affected, 1 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000067 Repaske et al. (1990), Repaske et al. (1996) M USA Caucasian 2.II-2 is a member of a 3-generation family which includes the nuclear Family-M with data on 2 individuals (1 affected, 1 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000068 Repaske et al. (1997) F USA - Member of 4-generation family with data on 9 individuals (5 affected, 4 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000069 Repaske et al. (1997) - Lebanon - Member of 4-generation family with data on 14 individuals (8 affected, 6 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000070 Birkegaard et al. (2013) - - - - NDI-AVP AVP AVP 1 1 LOVD
00000071 Rutishauser et al. (1999) F - Caucasian Member of 5-generation family with data on 3 individuals (1 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000072 Rutishauser et al. (2002) M (USA) - Nuclear family with de novo mutation NDI-AVP AVP AVP 1 1 LOVD
00000073 Rutishauser et al. (2002) M (USA) - Member of 4-generation family with data on 14 individuals (6 affected, 8 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000074 Rutishauser et al. (2002) F (USA) - Member of 4-generation family with data on 6 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000075 Skordis et al. (2000) F - Cypriot Member of 4-generation family with data on 25 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000076 Ueta et al. (1996) M - Japanese Member of 3-generation family with data on 3 individuals (2 affected, 1 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000077 Ilhan et al. (2016) M - Turkish Member of 4-generation family with data on 14 individuals (4 affected, 10 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000078 Wahlstrom et al. (2004) M - American Member of 5-generation family with data on 4 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000079 Willcutts et al. (1999) M Palestine Arab Member of a nuclear family with first-cousin parents with data on 3 affected siblings and their unaffected parents. Assumed to be related to Palestinian family in Abu Libdeh et al. (2010) based on haplotype analysis. NDI-AVP AVP AVP 2 1 LOVD
00000080 Wolf et al. (2003) - - German Member of 4-generation family with data on 9 individuals (7 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000081 Santiprabhob et al. (2002) F - Caucasian Member of 5-generation family with data on 2 individuals (1 affected, 1 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000082 Miyakoshi et al. (2004) F (Japan) - Member of 5-generation family with data on 2 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000083 Abbes et al. (2000), van den Akker et al. (2000), Nijenhuis et al. (2001) M - Dutch IV-21, considered as proband, is a member of a 4-generation family with 105 individuals (59 affected, 46 unaffected). Family-2 in Abbes et al. considered to be part of the same pedigree. NDI-AVP AVP AVP 1 1 LOVD
00000085 Abbes et al. (2000) - - Dutch One of two unrelated families with a total of 105 individuals (59 affected, 46 unaffected). Family-2 considered to be part of the same pedigree. Healthy/Control AVP AVP 1 1 LOVD
00000087 Mahoney et al. (2002) - (USA) American 5-generation familly with data on 26 individuals (17 affected, 9 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000088 Ye et al. (2005) M - Chinese Member of 4-generation family with data on 15 individuals (4 affected, 11 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000089 Ye et al. (2005) M - Chinese Member of 3-generation family with data on 10 individuals (5 affected, 5 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000090 Siggaard et al. (1999) - - Danish Member of 5-generation family with data on 45 individuals (16 affected, 27 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000091 Koufaris et al. (2015) M - Cypriot Member of 3-generation family with data on 4 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
00000092 Kobayashi et al. (2006) M - Japanese Member of a 3-generation family with data on 2 individuals (1 affected, 1 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000093 Toustrup et al. (2018) F - Danish Member of 6-generation family with data on 8 individuals (7 affected, 1 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000094 Perrotta et al. (2015) F - - One of 9 idiopathic CDI patients tested for mutations in AVP and WFS1 genes. NDI-AVP AVP AVP 1 1 LOVD
00000095 Perrotta et al. (2015) F - - One of 9 idiopathic CDI patients tested for mutations in AVP and WFS1 genes. NDI-AVP AVP AVP 1 1 LOVD
00000096 de Fost et al. (2011) F (The Netherlands) - Mother and son. NDI-AVP AVP AVP 1 1 LOVD
00000097 Brachet et al. (2011) F - Belgian Member of a 4-generation family with data on 5 individuals (3 affected, 2 unaffected). NDI-AVP AVP AVP 1 1 LOVD
00000098 Brachet et al. (2011) M - Belgian Nuclear family with clinical data on 5 individuals (4 affected, 1 unaffected). Affected mother was adopted. NDI-AVP AVP AVP 1 1 LOVD
00000099 Brachet et al. (2011) M - Moroccan Member of 3-generation family with clinical data on 3 affected individuals. NDI-AVP AVP AVP 1 1 Mary Fujiwara
00000100 Turkkahraman et al. (2015) - - Turkish Member of 4-generation family with clinical data on 6 individuals (5 affected, 1 unaffected) NDI-AVP AVP AVP 1 1 LOVD
00000101 Turkkahraman et al. (2015) F - Turkish Member of 3-generation family with clinical data on 5 individuals (3 affected, 2 unaffected.) NDI-AVP AVP AVP 1 1 LOVD
00000102 Kim et al. (2014) - - Korean Member of 4-generation familly with clinical data on 3 affected individuals. NDI-AVP AVP AVP 1 1 LOVD
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