157 related articles for article (PubMed ID: 29929488)
1. Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
Al-Rakan MA; Abothnain MD; Alrifai MT; Alfadhel M
BMC Ophthalmol; 2018 Jun; 18(1):147. PubMed ID: 29929488
[TBL] [Abstract][Full Text] [Related]
2. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Rosti RO; Dikoglu E; Zaki MS; Abdel-Salam G; Makhseed N; Sese JC; Musaev D; Rosti B; Harbert MJ; Jones MC; Vaux KK; Gleeson JG
Am J Med Genet A; 2016 Apr; 170A(4):992-8. PubMed ID: 27001912
[TBL] [Abstract][Full Text] [Related]
3. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J; Seidl R; Prayer D; Khan MI; Mayr JA; Streubel B; Steiß JO; Hahn A; Csaicsich D; Castro C; Assoum M; Müller T; Wieczorek D; Mancini GM; Sadowski CE; Lévy N; Mégarbané A; Godbole K; Schanze D; Hildebrandt F; Delague V; Janecke AR; Zenker M
Hum Mutat; 2015 Nov; 36(11):1021-8. PubMed ID: 26123727
[TBL] [Abstract][Full Text] [Related]
4. Galloway-Mowat syndrome: neurologic features in two sibling pairs.
Ekstrand JJ; Friedman AL; Stafstrom CE
Pediatr Neurol; 2012 Aug; 47(2):129-32. PubMed ID: 22759691
[TBL] [Abstract][Full Text] [Related]
5. Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Domingo-Gallego A; Furlano M; Pybus M; Barraca D; Martínez AB; Mora Muñoz E; Torra R; Ars E
BMC Nephrol; 2019 Apr; 20(1):126. PubMed ID: 30975089
[TBL] [Abstract][Full Text] [Related]
6. Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent.
Naidu GD; Deepthi P; RajaKarthik K; Sriram S; Swarnalatha G; Gangadhar T
Saudi J Kidney Dis Transpl; 2017; 28(5):1188-1191. PubMed ID: 28937085
[TBL] [Abstract][Full Text] [Related]
7. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
Ben-Omran T; Fahiminiya S; Sorfazlian N; Almuriekhi M; Nawaz Z; Nadaf J; Khadija KA; Zaineddin S; Kamel H; Majewski J; Tropepe V
J Med Genet; 2015 Jun; 52(6):381-90. PubMed ID: 25873735
[TBL] [Abstract][Full Text] [Related]
8. WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
El Younsi M; Kraoua L; Meddeb R; Ferjani M; Trabelsi M; Ouertani I; Maazoul F; Abid N; Gargah T; M'rad R
Eur J Med Genet; 2019 Sep; 62(9):103550. PubMed ID: 30315938
[TBL] [Abstract][Full Text] [Related]
9. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN; Puffenberger EG; Baple E; Harding B; Crino P; Fogo AB; Wenger O; Xin B; Koehler AE; McGlincy MH; Provencher MM; Smith JD; Tran L; Al Turki S; Chioza BA; Cross H; Harlalka GV; Hurles ME; Maroofian R; Heaps AD; Morton MC; Stempak L; Hildebrandt F; Sadowski CE; Zaritsky J; Campellone K; Morton DH; Wang H; Crosby A; Strauss KA
Brain; 2015 Aug; 138(Pt 8):2173-90. PubMed ID: 26070982
[TBL] [Abstract][Full Text] [Related]
10. Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.
Krishnamurthy S; Rajesh NG; Ramesh A; Zenker M
Indian J Pediatr; 2012 Aug; 79(8):1087-90. PubMed ID: 22144119
[TBL] [Abstract][Full Text] [Related]
11. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Colin E; Huynh Cong E; Mollet G; Guichet A; Gribouval O; Arrondel C; Boyer O; Daniel L; Gubler MC; Ekinci Z; Tsimaratos M; Chabrol B; Boddaert N; Verloes A; Chevrollier A; Gueguen N; Desquiret-Dumas V; Ferré M; Procaccio V; Richard L; Funalot B; Moncla A; Bonneau D; Antignac C
Am J Hum Genet; 2014 Dec; 95(6):637-48. PubMed ID: 25466283
[TBL] [Abstract][Full Text] [Related]
12. Homozygous mutation in
Rosti RO; Sotak BN; Bielas SL; Bhat G; Silhavy JL; Aslanger AD; Altunoglu U; Bilge I; Tasdemir M; Yzaguirrem AD; Musaev D; Infante S; Thuong W; Marin-Valencia I; Nelson SF; Kayserili H; Gleeson JG
J Med Genet; 2017 Jun; 54(6):399-403. PubMed ID: 28280135
[TBL] [Abstract][Full Text] [Related]
13. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.
Lin PY; Tseng MH; Zenker M; Rao J; Hildebrandt F; Lin SH; Lin CC; Chang JH; Hsu CH; Lee MD; Lin SP; Tsai JD
Orphanet J Rare Dis; 2018 Dec; 13(1):226. PubMed ID: 30558655
[TBL] [Abstract][Full Text] [Related]
14. Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.
Wang PZT; Prasad C; Rodriguez Cuellar CI; Filler G
Pediatr Nephrol; 2018 Nov; 33(11):2201-2204. PubMed ID: 30141175
[TBL] [Abstract][Full Text] [Related]
15. A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.
Hyun HS; Kim SH; Park E; Cho MH; Kang HG; Lee HS; Miyake N; Matsumoto N; Tsukaguchi H; Cheong HI
BMC Med Genet; 2018 Jul; 19(1):131. PubMed ID: 30053862
[TBL] [Abstract][Full Text] [Related]
16. A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.
Racine J; Golden R
Doc Ophthalmol; 2021 Aug; 143(1):75-83. PubMed ID: 33548032
[TBL] [Abstract][Full Text] [Related]
17. Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings.
Chen CP; Lin SP; Liu YP; Tsai JD; Chen CY; Shih SL; Tsai FJ; Wu PC; Wang W
Taiwan J Obstet Gynecol; 2011 Jun; 50(2):212-6. PubMed ID: 21791310
[TBL] [Abstract][Full Text] [Related]
18. An unusual case of nephrotic syndrome in a microcephalic infant: Answers.
Baker E; Weaver D; Massengill S; Mittag D; Juusola J; Demmer L
Pediatr Nephrol; 2019 Nov; 34(11):2327-2329. PubMed ID: 31069511
[No Abstract] [Full Text] [Related]
19. Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
Fujita A; Tsukaguchi H; Koshimizu E; Nakazato H; Itoh K; Kuraoka S; Komohara Y; Shiina M; Nakamura S; Kitajima M; Tsurusaki Y; Miyatake S; Ogata K; Iijima K; Matsumoto N; Miyake N
Ann Neurol; 2018 Dec; 84(6):814-828. PubMed ID: 30427554
[TBL] [Abstract][Full Text] [Related]
20. Neuropathological homology in true Galloway-Mowat syndrome.
Keith J; Fabian VA; Walsh P; Sinniah R; Robitaille Y
J Child Neurol; 2011 Apr; 26(4):510-7. PubMed ID: 21233460
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
