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]