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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

211 related items for PubMed ID: 16532399

  • 1. 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; 78(4):702-7. PubMed ID: 16532399
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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 08; 39(3):391-395. PubMed ID: 29419336
    [Abstract] [Full Text] [Related]

  • 5. 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 08; 98(5):445-456. PubMed ID: 32740904
    [Abstract] [Full Text] [Related]

  • 6. 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 08; 288(1):190-211. PubMed ID: 32248620
    [Abstract] [Full Text] [Related]

  • 7. 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 08; 34(5):686-96. PubMed ID: 23420520
    [Abstract] [Full Text] [Related]

  • 8. 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]

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  • 12.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Handley M, Sheridan E.
    ; 1993 Dec 01. PubMed ID: 29300443
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  • 14. 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]

  • 15. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
    Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR.
    Open Biol; 2015 Jun 01; 5(6):150047. PubMed ID: 26063829
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
    Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER.
    Nat Genet; 2005 Mar 28; 37(3):221-3. PubMed ID: 15696165
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  • 18. 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]

  • 19. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.
    Mhlanga-Mutangadura T, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, Katz ML, Shelton GD, Lever TE, Giuliano E, Granger N, Shomper J, O'Brien DP.
    Neurobiol Dis; 2016 Feb 21; 86():75-85. PubMed ID: 26607784
    [Abstract] [Full Text] [Related]

  • 20. 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]

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