BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 32419160)

  • 21. 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]  

  • 22. WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder.
    Ohtsuki T; Ishiguro H; Yoshikawa T; Arinami T
    J Affect Disord; 2000 Apr; 58(1):11-7. PubMed ID: 10760554
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family.
    Pourreza MR; Sobhani M; Rahimi A; Aramideh M; Kajbafzadeh AM; Noori-Daloii MR; Tabatabaiefar MA
    Acta Diabetol; 2020 Jan; 57(1):81-87. PubMed ID: 31309279
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.
    Haghighi A; Haghighi A; Setoodeh A; Saleh-Gohari N; Astuti D; Barrett TG
    Eur J Hum Genet; 2013 Mar; 21(3):347-51. PubMed ID: 22781099
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [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]  

  • 27. 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]  

  • 28. [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
    Tanabe K; Matsunaga K; Hatanaka M; Akiyama M; Tanizawa Y
    Nihon Rinsho; 2015 Feb; 73(2):341-9. PubMed ID: 25764693
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).
    Çelmeli G; Türkkahraman D; Çürek Y; Houghton J; Akçurin S; Bircan İ
    J Clin Res Pediatr Endocrinol; 2017 Mar; 9(1):80-84. PubMed ID: 27468121
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. [A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].
    Fang QC; Jia WP; Zhang R; Li Q; Hu C; Shao XY; Chai HQ; Lu HJ; Xiang KS
    Zhonghua Yi Xue Za Zhi; 2005 Sep; 85(35):2468-71. PubMed ID: 16321270
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [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]  

  • 33. Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
    Abu-El-Haija A; McGowan C; Vanderveen D; Bodamer O
    Am J Med Genet A; 2021 Feb; 185(2):528-533. PubMed ID: 33179441
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [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]  

  • 35. 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]  

  • 36. Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
    Hildebrand MS; Sorensen JL; Jensen M; Kimberling WJ; Smith RJ
    Am J Med Genet A; 2008 Sep; 146A(17):2258-65. PubMed ID: 18688868
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. A novel
    Maamouri R; Hizem S; Kammoun I; Elaribi Y; Rejeb I; Sebai M; Jilani H; Rouzier C; Cheour M; Paquis-Flucklinger V; Ben Jemaa L
    Ophthalmic Genet; 2023 Jun; 44(3):304-312. PubMed ID: 36094066
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genomics of Wolfram Syndrome 1 (WFS1).
    Kõks S
    Biomolecules; 2023 Sep; 13(9):. PubMed ID: 37759745
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
    Inukai K; Awata T; Inoue K; Kurihara S; Nakashima Y; Watanabe M; Sawa T; Takata N; Katayama S
    Diabetes Res Clin Pract; 2005 Aug; 69(2):136-41. PubMed ID: 16005363
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.