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.
243 related articles for article (PubMed ID: 22226368)
1. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. Lieber DS; Vafai SB; Horton LC; Slate NG; Liu S; Borowsky ML; Calvo SE; Schmahmann JD; Mootha VK BMC Med Genet; 2012 Jan; 13():3. PubMed ID: 22226368 [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. Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome. Kitamura RA; Maxwell KG; Ye W; Kries K; Brown CM; Augsornworawat P; Hirsch Y; Johansson MM; Weiden T; Ekstein J; Cohen J; Klee J; Leslie K; Simeonov A; Henderson MJ; Millman JR; Urano F JCI Insight; 2022 Sep; 7(18):. PubMed ID: 36134655 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
7. 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]
8. 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]
9. Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report. Sahli M; Zrhidri A; Boualaoui I; Cherkaoui Jaouad I; El Kadiri Y; Nouini Y; Sefiani A J Med Case Rep; 2023 Sep; 17(1):409. PubMed ID: 37752530 [TBL] [Abstract][Full Text] [Related]
10. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Gómez-Zaera M; Strom TM; Rodríguez B; Estivill X; Meitinger T; Nunes V Mol Genet Metab; 2001 Jan; 72(1):72-81. PubMed ID: 11161832 [TBL] [Abstract][Full Text] [Related]
11. 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]
13. Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family. Pourreza MR; Sobhani M; Rahimi A; Aramideh M; Kajbafzadeh AM; Noori-Daloii MR; Tabatabaiefar MA Acta Diabetol; 2020 Jan; 57(1):81-87. PubMed ID: 31309279 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation. Waschbisch A; Volbers B; Struffert T; Hoyer J; Schwab S; Bardutzky J J Neurol Sci; 2011 Jan; 300(1-2):191-3. PubMed ID: 20875904 [TBL] [Abstract][Full Text] [Related]
17. A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies. Nakamura A; Shimizu C; Nagai S; Taniguchi S; Umetsu M; Atsumi T; Wada N; Yoshioka N; Ono Y; Tanizawa Y; Koike T Diabetes Res Clin Pract; 2006 Aug; 73(2):215-7. PubMed ID: 16442662 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness. Safarpour Lima B; Ghaedi H; Daftarian N; Ahmadieh H; Jamshidi J; Khorrami M; Noroozi R; Sohrabifar N; Assarzadegan F; Hesami O; Taghavi S; Ahmadifard A; Atakhorrami M; Rahimi-Aliabadi S; Shahmohammadibeni N; Alehabib E; Andarva M; Darvish H; Emamalizadeh B Eur J Med Genet; 2016 Feb; 59(2):65-9. PubMed ID: 26773575 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]