240 related articles for article (PubMed ID: 18660851)
1. Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.
Zenteno JC; Ruiz G; Pérez-Cano HJ; Camargo M
Mol Vis; 2008 Jul; 14():1353-7. PubMed ID: 18660851
[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. 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]
4. 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]
5. 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]
6. A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.
Pitt K; James C; Kochar IS; Kapoor A; Jain S; Hussain K; Bennett K
J Pediatr Endocrinol Metab; 2011; 24(5-6):389-91. PubMed ID: 21823543
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.
Titah SM; Meunier I; Blanchet C; Lopez S; Rondouin G; Lenaers G; Amati-Bonneau P; Reynier P; Paquis-Flucklinger V; Hamel CP
Eur J Ophthalmol; 2012; 22(2):254-8. PubMed ID: 21623591
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.
Sobhani M; Tabatabaiefar MA; Rajab A; Kajbafzadeh AM; Noori-Daloii MR
Mol Biol Rep; 2014 Nov; 41(11):7499-505. PubMed ID: 25173644
[TBL] [Abstract][Full Text] [Related]
16. Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.
Ghahraman M; Abbaszadegan MR; Vakili R; Hosseini S; Fardi Golyan F; Ghaemi N; Forghanifard MM
Acta Diabetol; 2016 Dec; 53(6):899-904. PubMed ID: 27412528
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
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. [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]
[Next] [New Search]
