BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 25899426)

  • 1. 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; 167(6):1243-51. PubMed ID: 25899426
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
    Liegel RP; Handley MT; Ronchetti A; Brown S; Langemeyer L; Linford A; Chang B; Morris-Rosendahl DJ; Carpanini S; Posmyk R; Harthill V; Sheridan E; Abdel-Salam GM; Terhal PA; Faravelli F; Accorsi P; Giordano L; Pinelli L; Hartmann B; Ebert AD; Barr FA; Aligianis IA; Sidjanin DJ
    Am J Hum Genet; 2013 Dec; 93(6):1001-14. PubMed ID: 24239381
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.
    Kabzińska D; Mierzewska H; Senderek J; Kochański A
    Folia Neuropathol; 2016; 54(3):273-281. PubMed ID: 27764520
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

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

  • 18. 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; 160(6):309-315. PubMed ID: 32599602
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 5(6):150047. PubMed ID: 26063829
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 88(4):499-507. PubMed ID: 21473985
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.