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Journal Abstract Search

421 related items for PubMed ID: 30730599

  • 1. 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; 179(4):579-587. PubMed ID: 30730599
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  • 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
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  • 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
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  • 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
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  • 5. 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; 38(3):337-40. PubMed ID: 26421802
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  • 6. 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
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  • 7. 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 Apr 28; 26(4):415-23. PubMed ID: 26852512
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  • 8. 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
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  • 9. 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
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  • 12. 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
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  • 13. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).
    Wiedmer M, Oevermann A, Borer-Germann SE, Gorgas D, Shelton GD, Drögemüller M, Jagannathan V, Henke D, Leeb T.
    G3 (Bethesda); 2015 Nov 23; 6(2):255-62. PubMed ID: 26596647
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  • 14. Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
    Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M.
    Am J Med Genet A; 2015 Jun 23; 167(6):1243-51. PubMed ID: 25899426
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  • 15. 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 Jun 23; 160(6):309-315. PubMed ID: 32599602
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  • 16. Warburg Micro syndrome.
    Dursun F, Güven A, Morris-Rosendahl D.
    J Pediatr Endocrinol Metab; 2012 Jun 23; 25(3-4):379-82. PubMed ID: 22768674
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