236 related articles for article (PubMed ID: 33879837)
1. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Acharya A; Raza SI; Anwar MZ; Bharadwaj T; Liaqat K; Khokhar MAS; Everard JL; Nasir A; ; Nickerson DA; Bamshad MJ; Ansar M; Schrauwen I; Ahmad W; Leal SM
J Hum Genet; 2021 Oct; 66(10):1009-1018. PubMed ID: 33879837
[TBL] [Abstract][Full Text] [Related]
2. Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome.
Zhang Y; Feng L; Kong X; Wu J; Chen Y; Tian G
Orphanet J Rare Dis; 2019 Aug; 14(1):190. PubMed ID: 31391115
[TBL] [Abstract][Full Text] [Related]
3. A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity).
Torkamandi S; Rezaei S; Mirfakhraie R; Bayat S; Piltan S; Gholami M
J Clin Lab Anal; 2020 Aug; 34(8):e23358. PubMed ID: 32419160
[TBL] [Abstract][Full Text] [Related]
4. Molecular characterization of WFS1 in patients with Wolfram syndrome.
van ven Ouweland JM; Cryns K; Pennings RJ; Walraven I; Janssen GM; Maassen JA; Veldhuijzen BF; Arntzenius AB; Lindhout D; Cremers CW; Van Camp G; Dikkeschei LD
J Mol Diagn; 2003 May; 5(2):88-95. PubMed ID: 12707373
[TBL] [Abstract][Full Text] [Related]
5. Wolfram syndrome: case report and review of the literature.
Ari S; Keklíkçí U; Caça I; Unlü K; Kayabaşi H
Ann Ophthalmol (Skokie); 2007; 39(1):53-5. PubMed ID: 17914206
[TBL] [Abstract][Full Text] [Related]
6. Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Matsunaga K; Tanabe K; Inoue H; Okuya S; Ohta Y; Akiyama M; Taguchi A; Kora Y; Okayama N; Yamada Y; Wada Y; Amemiya S; Sugihara S; Nakao Y; Oka Y; Tanizawa Y
PLoS One; 2014; 9(9):e106906. PubMed ID: 25211237
[TBL] [Abstract][Full Text] [Related]
7. Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals.
Bansal V; Boehm BO; Darvasi A
Diabetologia; 2018 Oct; 61(10):2180-2188. PubMed ID: 30014265
[TBL] [Abstract][Full Text] [Related]
8. Segregation of two variants suggests the presence of autosomal dominant and recessive forms of
Lusk L; Black E; Vengoechea J
J Med Genet; 2020 Feb; 57(2):121-123. PubMed ID: 31363008
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.
Sobhani M; Tabatabaiefar MA; Ghafouri-Fard S; Rajab A; Hojjat A; Kajbafzadeh AM; Noori-Daloii MR
BMC Med Genet; 2020 Jan; 21(1):13. PubMed ID: 31937257
[TBL] [Abstract][Full Text] [Related]
10. Wolfram syndrome 1 and Wolfram syndrome 2.
Rigoli L; Di Bella C
Curr Opin Pediatr; 2012 Aug; 24(4):512-7. PubMed ID: 22790102
[TBL] [Abstract][Full Text] [Related]
11. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
Young TL; Ives E; Lynch E; Person R; Snook S; MacLaren L; Cater T; Griffin A; Fernandez B; Lee MK; King MC
Hum Mol Genet; 2001 Oct; 10(22):2509-14. PubMed ID: 11709538
[TBL] [Abstract][Full Text] [Related]
12. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
Medlej R; Wasson J; Baz P; Azar S; Salti I; Loiselet J; Permutt A; Halaby G
J Clin Endocrinol Metab; 2004 Apr; 89(4):1656-61. PubMed ID: 15070927
[TBL] [Abstract][Full Text] [Related]
13. Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Rigoli L; Bramanti P; Di Bella C; De Luca F
Pediatr Res; 2018 May; 83(5):921-929. PubMed ID: 29774890
[TBL] [Abstract][Full Text] [Related]
14. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).
Yuca SA; Rendtorff ND; Boulahbel H; Lodahl M; Tranebjærg L; Cesur Y; Dogan M; Yilmaz C; Akgun C; Acikgoz M
Eur J Med Genet; 2012 Jan; 55(1):37-42. PubMed ID: 21968327
[TBL] [Abstract][Full Text] [Related]
15. Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
Abu-El-Haija A; McGowan C; Vanderveen D; Bodamer O
Am J Med Genet A; 2021 Feb; 185(2):528-533. PubMed ID: 33179441
[TBL] [Abstract][Full Text] [Related]
16. [From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)].
Pennings RJ; Dikkeschei LD; Cremers CW; van den Ouweland JM
Ned Tijdschr Geneeskd; 2002 May; 146(21):985-7. PubMed ID: 12058630
[TBL] [Abstract][Full Text] [Related]
17. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.
Ganie MA; Laway BA; Nisar S; Wani MM; Khurana ML; Ahmad F; Ahmed S; Gupta P; Ali I; Shabir I; Shadan A; Ahmed A; Tufail S
Diabet Med; 2011 Nov; 28(11):1337-42. PubMed ID: 21726277
[TBL] [Abstract][Full Text] [Related]
18. Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Z; Yi J; Zhong M; Wang Y; Liu Q; Wang X; Liu D; Ren W
BMC Endocr Disord; 2021 Aug; 21(1):166. PubMed ID: 34404380
[TBL] [Abstract][Full Text] [Related]
19. Wolfram syndrome: Portuguese research.
Ferreras C; Gorito V; Pedro J; Ferreira S; Costa C; Santos Silva R; Castro Correia C
Endokrynol Pol; 2021; 72(4):353-356. PubMed ID: 34010437
[TBL] [Abstract][Full Text] [Related]
20. Novel missense
Mair H; Fowler N; Papatzanaki ME; Sudhakar P; Maldonado RS
Ophthalmic Genet; 2022 Aug; 43(4):567-572. PubMed ID: 35450504
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
