119 related articles for article (PubMed ID: 23338790)
1. Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report.
Xu Q; Qu H; Wei S
Mol Med Rep; 2013 Mar; 7(3):965-8. PubMed ID: 23338790
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. [Familial Wolfram syndrome].
Bessahraoui M; Paquis V; Rouzier C; Bouziane-Nedjadi K; Naceur M; Niar S; Zennaki A; Boudraa G; Touhami M
Arch Pediatr; 2014 Nov; 21(11):1229-32. PubMed ID: 25282462
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Wolfram syndrome: clinical and genetic analysis in two sisters].
Conart JB; Maalouf T; Jonveaux P; Guerci B; Angioi K
J Fr Ophtalmol; 2011 Oct; 34(8):543-6. PubMed ID: 21632151
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
Colosimo A; Guida V; Rigoli L; Di Bella C; De Luca A; Briuglia S; Stuppia L; Salpietro DC; Dallapiccola B
Hum Mutat; 2003 Jun; 21(6):622-9. PubMed ID: 12754709
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.
Domènech E; Kruyer H; Gómez C; Calvo MT; Nunes V
Prenat Diagn; 2004 Oct; 24(10):787-9. PubMed ID: 15503287
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. [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]
16. Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.
Chacón-Camacho O; Arce-Gonzalez R; Granillo-Alvarez M; Flores-Limas S; Ramírez M; Zenteno JC
Ophthalmic Genet; 2013 Dec; 34(4):243-8. PubMed ID: 23373429
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.
Hong J; Zhang YW; Zhang HJ; Jia HY; Zhang Y; Ding XY; Zhou DY; Chen HP; Jiang XH; Cui B; Li XY; Ning G
Endocrine; 2009 Apr; 35(2):151-7. PubMed ID: 19160074
[TBL] [Abstract][Full Text] [Related]
19. WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.
Zalloua PA; Azar ST; Delépine M; Makhoul NJ; Blanc H; Sanyoura M; Lavergne A; Stankov K; Lemainque A; Baz P; Julier C
Hum Mol Genet; 2008 Dec; 17(24):4012-21. PubMed ID: 18806274
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
