BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

487 related articles for article (PubMed ID: 29774890)

  • 1. 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]  

  • 2. Correction: 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 Nov; 84(5):787. PubMed ID: 30171196
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 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. Wolfram Syndrome 1: From Genetics to Therapy.
    Rigoli L; Caruso V; Salzano G; Lombardo F
    Int J Environ Res Public Health; 2022 Mar; 19(6):. PubMed ID: 35328914
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. [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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
    Ghirardello S; Dusi E; Castiglione B; Fumagalli M; Mosca F
    Ital J Pediatr; 2014 Sep; 40():76. PubMed ID: 25255707
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.
    Pallotta MT; Tascini G; Crispoldi R; Orabona C; Mondanelli G; Grohmann U; Esposito S
    J Transl Med; 2019 Jul; 17(1):238. PubMed ID: 31337416
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's disease.
    Li L; Venkataraman L; Chen S; Fu H
    Neurosci Biobehav Rev; 2020 Nov; 118():775-783. PubMed ID: 32949681
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 25.