BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

321 related articles for article (PubMed ID: 21823543)

  • 1. 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]  

  • 2. 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]  

  • 3. [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]  

  • 4. 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]  

  • 5. [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]  

  • 6. Identification of Three Novel and One Known Mutation in the
    Sherif M; Demirbilek H; Çayır A; Tahir S; Çavdarlı B; Demiral M; Cebeci AN; Vurallı D; Rahman SA; Unal E; Büyükyılmaz G; Baran RT; Özbek MN; Hussain K
    J Clin Res Pediatr Endocrinol; 2021 Feb; 13(1):34-43. PubMed ID: 32938580
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
    Amr S; Heisey C; Zhang M; Xia XJ; Shows KH; Ajlouni K; Pandya A; Satin LS; El-Shanti H; Shiang R
    Am J Hum Genet; 2007 Oct; 81(4):673-83. PubMed ID: 17846994
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 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. A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.
    Gong Y; Xiong L; Li X; Su L; Xiao H
    BMC Endocr Disord; 2021 Apr; 21(1):76. PubMed ID: 33879153
    [TBL] [Abstract][Full Text] [Related]  

  • 19. WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
    Hu K; Zatyka M; Astuti D; Beer N; Dias RP; Kulkarni A; Ainsworth J; Wright B; Majander A; Yu-Wai-Man P; Williams D; Barrett T
    J Med Genet; 2022 Jan; 59(1):65-74. PubMed ID: 34006618
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.