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

233 related items for PubMed ID: 20967465

  • 1. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
    Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C.
    Hum Genet; 2011 Jan; 129(1):45-50. PubMed ID: 20967465
    [Abstract] [Full Text] [Related]

  • 2. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
    Gumus E.
    Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336
    [Abstract] [Full Text] [Related]

  • 3. Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
    Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS.
    Clin Genet; 2020 Nov; 98(5):445-456. PubMed ID: 32740904
    [Abstract] [Full Text] [Related]

  • 4. Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.
    Hozhabri H, Talebi M, Mehrjardi MYV, De Luca A, Dehghani M.
    Am J Med Genet A; 2020 May; 182(5):957-961. PubMed ID: 32162791
    [Abstract] [Full Text] [Related]

  • 5. Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
    Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA.
    Am J Hum Genet; 2011 Apr 08; 88(4):499-507. PubMed ID: 21473985
    [Abstract] [Full Text] [Related]

  • 6. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
    Koparir A, Karatas OF, Yilmaz SS, Suer I, Ozer B, Yuceturk B, Ozen M.
    Am J Med Genet A; 2019 Apr 08; 179(4):579-587. PubMed ID: 30730599
    [Abstract] [Full Text] [Related]

  • 7. RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
    Handley MT, Aligianis IA.
    Biochem Soc Trans; 2012 Dec 01; 40(6):1394-7. PubMed ID: 23176487
    [Abstract] [Full Text] [Related]

  • 8. RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.
    Tasdemir S, Sahin I, Morris-Rosendahl DJ, Marzioglu E, Cayir A, Yuce I, Tatar A.
    Genet Couns; 2015 Dec 01; 26(4):415-23. PubMed ID: 26852512
    [Abstract] [Full Text] [Related]

  • 9. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
    Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F.
    Eur J Hum Genet; 2010 Oct 01; 18(10):1100-6. PubMed ID: 20512159
    [Abstract] [Full Text] [Related]

  • 10. Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
    Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hübner C, Horn D, Kaindl AM.
    Orphanet J Rare Dis; 2014 Oct 21; 9():113. PubMed ID: 25332050
    [Abstract] [Full Text] [Related]

  • 11. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
    Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER.
    Am J Hum Genet; 2006 Apr 21; 78(4):702-7. PubMed ID: 16532399
    [Abstract] [Full Text] [Related]

  • 12. The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
    Takáts S, Lévay L, Boda A, Tóth S, Simon-Vecsei Z, Rubics A, Varga Á, Lippai M, Lőrincz P, Glatz G, Juhász G.
    FEBS J; 2021 Jan 21; 288(1):190-211. PubMed ID: 32248620
    [Abstract] [Full Text] [Related]

  • 13. From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.
    Mutlu Albayrak H, Elçioğlu NH, Yeter B, Karaer K.
    Am J Med Genet A; 2021 Aug 21; 185(8):2325-2334. PubMed ID: 33951304
    [Abstract] [Full Text] [Related]

  • 14. Warburg micro syndrome in two children from a highly inbred Turkish family.
    Yildirim MS, Zamani AG, Bozkurt B.
    Genet Couns; 2012 Aug 21; 23(2):169-74. PubMed ID: 22876574
    [Abstract] [Full Text] [Related]

  • 15. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
    Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T.
    Brain Dev; 2016 Mar 21; 38(3):337-40. PubMed ID: 26421802
    [Abstract] [Full Text] [Related]

  • 16. A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report.
    Zhou D, Wang Q, Liu H.
    Medicine (Baltimore); 2021 Jan 15; 100(2):e22902. PubMed ID: 33466118
    [Abstract] [Full Text] [Related]

  • 17. Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
    Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozanek M, Raskova D, Vincent AL, Liskova P.
    Am J Med Genet A; 2016 Jul 15; 170(7):1843-8. PubMed ID: 27256633
    [Abstract] [Full Text] [Related]

  • 18. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
    Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA.
    Hum Mutat; 2013 May 15; 34(5):686-96. PubMed ID: 23420520
    [Abstract] [Full Text] [Related]

  • 19. Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.
    Khalesi R, Razmara E, Asgaritarghi G, Tavasoli AR, Riazalhosseini Y, Auld D, Garshasbi M.
    BMC Neurol; 2021 Apr 28; 21(1):180. PubMed ID: 33910511
    [Abstract] [Full Text] [Related]

  • 20. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
    Sezer A, Kayhan G, Koç A, Ergün MA, Perçin FE.
    Cytogenet Genome Res; 2020 Apr 28; 160(6):309-315. PubMed ID: 32599602
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.