173 related articles for article (PubMed ID: 23176487)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
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; 179(4):579-587. PubMed ID: 30730599
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
10. 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]
11. 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; 34(5):686-96. PubMed ID: 23420520
[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. 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]
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. 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]
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. 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 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]
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; 21(1):180. PubMed ID: 33910511
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]