These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

446 related items for PubMed ID: 23845777

  • 1. 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 10; 528(2):309-13. PubMed ID: 23845777
    [Abstract] [Full Text] [Related]

  • 2. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
    Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V, French Group of WS.
    Hum Mutat; 2005 Jan 10; 25(1):99-100. PubMed ID: 15605410
    [Abstract] [Full Text] [Related]

  • 3. 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 10; 72(1):72-81. PubMed ID: 11161832
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 509(1):168-72. PubMed ID: 22771918
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 566(1):63-7. PubMed ID: 25895475
    [Abstract] [Full Text] [Related]

  • 6. 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 14; 21(1):13. PubMed ID: 31937257
    [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 14; 21(6):622-9. PubMed ID: 12754709
    [Abstract] [Full Text] [Related]

  • 8. 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 14; 55(1):37-42. PubMed ID: 21968327
    [Abstract] [Full Text] [Related]

  • 9. 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 14; 22(4):275-87. PubMed ID: 12955714
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 9(1):80-84. PubMed ID: 27468121
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 41(11):7499-505. PubMed ID: 25173644
    [Abstract] [Full Text] [Related]

  • 12. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.
    Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T.
    Eur J Hum Genet; 2005 Dec 01; 13(12):1275-84. PubMed ID: 16151413
    [Abstract] [Full Text] [Related]

  • 13. Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
    Domènech E, Gómez-Zaera M, Nunes V.
    Clin Genet; 2004 Jun 01; 65(6):463-9. PubMed ID: 15151504
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 160(2):309-16. PubMed ID: 19042979
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 5(2):88-95. PubMed ID: 12707373
    [Abstract] [Full Text] [Related]

  • 16. Wolfram syndrome and WFS1 gene.
    Rigoli L, Lombardo F, Di Bella C.
    Clin Genet; 2011 Feb 01; 79(2):103-17. PubMed ID: 20738327
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 28(11):1337-42. PubMed ID: 21726277
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 53(6):899-904. PubMed ID: 27412528
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 24(10):787-9. PubMed ID: 15503287
    [Abstract] [Full Text] [Related]

  • 20. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
    Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA.
    Nat Genet; 1998 Oct 01; 20(2):143-8. PubMed ID: 9771706
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 23.