These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
287 related articles for article (PubMed ID: 24890733)
1. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders. Chaussenot A; Rouzier C; Quere M; Plutino M; Ait-El-Mkadem S; Bannwarth S; Barth M; Dollfus H; Charles P; Nicolino M; Chabrol B; Vialettes B; Paquis-Flucklinger V Clin Genet; 2015 May; 87(5):430-9. PubMed ID: 24890733 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms. Sobhani M; Tabatabaiefar MA; Rajab A; Kajbafzadeh AM; Noori-Daloii MR Gene; 2013 Oct; 528(2):309-13. PubMed ID: 23845777 [TBL] [Abstract][Full Text] [Related]
4. Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients. Blanco-Aguirre ME; la Parra DR; Tapia-Garcia H; Gonzalez-Rodriguez J; Welschen D; Arroyo-Yllanes ME; Escudero I; Nuñez-Hernandez JA; Medina-Bravo P; Zenteno JC Gene; 2015 Jul; 566(1):63-7. PubMed ID: 25895475 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss. Noguchi Y; Yashima T; Hatanaka A; Uzawa M; Yasunami M; Kimura A; Kitamura K Acta Otolaryngol; 2005 Nov; 125(11):1189-94. PubMed ID: 16353398 [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. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. Fukuoka H; Kanda Y; Ohta S; Usami SI J Hum Genet; 2007; 52(6):510-515. PubMed ID: 17492394 [TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Hardy C; Khanim F; Torres R; Scott-Brown M; Seller A; Poulton J; Collier D; Kirk J; Polymeropoulos M; Latif F; Barrett T Am J Hum Genet; 1999 Nov; 65(5):1279-90. PubMed ID: 10521293 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis]. Tanizawa Y Rinsho Byori; 2003 Jun; 51(6):544-9. PubMed ID: 12884741 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report. Li M; Liu J; Yi H; Xu L; Zhong X; Peng F BMC Pediatr; 2018 Mar; 18(1):116. PubMed ID: 29549887 [TBL] [Abstract][Full Text] [Related]
13. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Cryns K; Sivakumaran TA; Van den Ouweland JM; Pennings RJ; Cremers CW; Flothmann K; Young TL; Smith RJ; Lesperance MM; Van Camp G Hum Mutat; 2003 Oct; 22(4):275-87. PubMed ID: 12955714 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. Giuliano F; Bannwarth S; Monnot S; Cano A; Chabrol B; Vialettes B; Delobel B; Paquis-Flucklinger V; Hum Mutat; 2005 Jan; 25(1):99-100. PubMed ID: 15605410 [TBL] [Abstract][Full Text] [Related]
16. [Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss]. Shi SM; Han YH; Wang HB Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Sep; 51(9):712-715. PubMed ID: 27666717 [TBL] [Abstract][Full Text] [Related]
17. Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome. Gasparin MR; Crispim F; Paula SL; Freire MB; Dalbosco IS; Manna TD; Salles JE; Gasparin F; Guedes A; Marcantonio JM; Gambini M; Salim CP; Moisés RS Eur J Endocrinol; 2009 Feb; 160(2):309-16. PubMed ID: 19042979 [TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Hansen L; Eiberg H; Barrett T; Bek T; Kjaersgaard P; Tranebjaerg L; Rosenberg T Eur J Hum Genet; 2005 Dec; 13(12):1275-84. PubMed ID: 16151413 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]