163 related articles for article (PubMed ID: 27222289)
1. Clinical utility gene card for: Wolfram syndrome.
Moosajee M; Yu-Wai-Man P; Rouzier C; Bitner-Glindzicz M; Bowman R
Eur J Hum Genet; 2016 Nov; 24(11):. PubMed ID: 27222289
[No Abstract] [Full Text] [Related]
2. 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]
3. Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.
Rondinelli M; Novara F; Calcaterra V; Zuffardi O; Genovese S
Acta Diabetol; 2015 Feb; 52(1):175-8. PubMed ID: 25371195
[No Abstract] [Full Text] [Related]
4. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Rouzier C; Moore D; Delorme C; Lacas-Gervais S; Ait-El-Mkadem S; Fragaki K; Burté F; Serre V; Bannwarth S; Chaussenot A; Catala M; Yu-Wai-Man P; Paquis-Flucklinger V
Hum Mol Genet; 2017 May; 26(9):1599-1611. PubMed ID: 28335035
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.
Mozzillo E; Delvecchio M; Carella M; Grandone E; Palumbo P; Salina A; Aloi C; Buono P; Izzo A; D'Annunzio G; Vecchione G; Orrico A; Genesio R; Simonelli F; Franzese A
BMC Med Genet; 2014 Jul; 15():88. PubMed ID: 25056293
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Congenital cataracts in two siblings with Wolfram syndrome.
Mets RB; Emery SB; Lesperance MM; Mets MB
Ophthalmic Genet; 2010 Dec; 31(4):227-9. PubMed ID: 21067485
[TBL] [Abstract][Full Text] [Related]
9. A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.
Cattaneo M; La Sala L; Rondinelli M; Errichiello E; Zuffardi O; Puca AA; Genovese S; Ceriello A
BMC Med Genet; 2017 Dec; 18(1):147. PubMed ID: 29237418
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.
Ustaoglu M; Onder F; Karapapak M; Taslidere H; Guven D
Eur J Ophthalmol; 2020 Sep; 30(5):1099-1105. PubMed ID: 30957632
[TBL] [Abstract][Full Text] [Related]
12. Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103 + 1G>A CISD2 Mutation for Disease Modeling.
La Spada A; Ntai A; Genovese S; Rondinelli M; De Blasio P; Biunno I
Stem Cells Dev; 2018 Feb; 27(4):287-295. PubMed ID: 29239282
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. 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]
15. 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]
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. 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]
18. Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Rosanio FM; Di Candia F; Occhiati L; Fedi L; Malvone FP; Foschini DF; Franzese A; Mozzillo E
Int J Environ Res Public Health; 2022 Jan; 19(2):. PubMed ID: 35055657
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. 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]
[Next] [New Search]