BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

311 related articles for article (PubMed ID: 22876574)

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

  • 3. 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; 26(4):415-23. PubMed ID: 26852512
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Consanguinity as an Adjunct Diagnostic Tool.
    Srivastava P; Saxena D; Joshi S; Phadke SR
    Indian J Pediatr; 2016 Mar; 83(3):258-60. PubMed ID: 26138576
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 9():113. PubMed ID: 25332050
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?
    Mégarbané A; Choueiri R; Bleik J; Mezzina M; Caillaud C
    J Med Genet; 1999 Aug; 36(8):637-40. PubMed ID: 10465117
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 185(8):2325-2334. PubMed ID: 33951304
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 170(7):1843-8. PubMed ID: 27256633
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 18(10):1100-6. PubMed ID: 20512159
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 100(2):e22902. PubMed ID: 33466118
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. [Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child].
    Li HH; Shan L; Wang B; DU L; Jia FY
    Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jul; 20(7):585-587. PubMed ID: 30022763
    [No Abstract]   [Full Text] [Related]  

  • 16. 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; 6(2):255-62. PubMed ID: 26596647
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.
    Warburg M; Sjö O; Fledelius HC; Pedersen SA
    Am J Dis Child; 1993 Dec; 147(12):1309-12. PubMed ID: 8249951
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 288(1):190-211. PubMed ID: 32248620
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 21(1):180. PubMed ID: 33910511
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.