BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

396 related articles for article (PubMed ID: 29549887)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.
    Gasparin MR; Crispim F; Paula SL; Freire MB; Dalbosco IS; Manna TD; Salles JE; Gasparin F; Guedes A; Marcantonio JM; Gambini M; Salim CP; Moisés RS
    Eur J Endocrinol; 2009 Feb; 160(2):309-16. PubMed ID: 19042979
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. [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]  

  • 13. First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.
    Domènech E; Kruyer H; Gómez C; Calvo MT; Nunes V
    Prenat Diagn; 2004 Oct; 24(10):787-9. PubMed ID: 15503287
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. 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]  

  • 16. A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.
    Elli FM; Ghirardello S; Giavoli C; Gangi S; Dioni L; Crippa M; Finelli P; Bergamaschi S; Mosca F; Spada A; Beck-Peccoz P
    Gene; 2012 Nov; 509(1):168-72. PubMed ID: 22771918
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.
    Morikawa S; Tajima T; Nakamura A; Ishizu K; Ariga T
    Pediatr Diabetes; 2017 Dec; 18(8):934-941. PubMed ID: 28271591
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 20.