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Quoted phrase not found in phrase index: "Galloway-Mowat syndrome 1"
Page 1
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. Lin PY, et al. Orphanet J Rare Dis. 2018 Dec 17;13(1):226. doi: 10.1186/s13023-018-0961-9. Orphanet J Rare Dis. 2018. PMID: 30558655 Free PMC article.
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. ...
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of g …
Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.
Chen Y, Yang Y, Yang Y, Rao J, Bai H. Chen Y, et al. BMC Nephrol. 2023 Feb 8;24(1):29. doi: 10.1186/s12882-022-03000-5. BMC Nephrol. 2023. PMID: 36755238 Free PMC article.
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a group of rare hereditary diseases by the combination of early onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73, LAGE3, OSGEP, TP53RK, TPRKB, GON7, WDR4 or …
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a group of rare hereditary diseases by the combination of early onset st …
Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.
Cooperstone BG, Friedman A, Kaplan BS. Cooperstone BG, et al. Am J Med Genet. 1993 Aug 15;47(2):250-4. doi: 10.1002/ajmg.1320470221. Am J Med Genet. 1993. PMID: 8213914 Review.
The prognosis is extremely poor; every patient but one has died before age 5 1/2 years. Antenatal diagnosis may be possible....
The prognosis is extremely poor; every patient but one has died before age 5 1/2 years. Antenatal diagnosis may be possible....
A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.
Racine J, Golden R. Racine J, et al. Doc Ophthalmol. 2021 Aug;143(1):75-83. doi: 10.1007/s10633-021-09820-4. Epub 2021 Feb 6. Doc Ophthalmol. 2021. PMID: 33548032
PURPOSE: Galloway-Mowat syndrome (GAMOS) is a clinically heterogenous and rare condition classically described as the combination of nephrotic syndrome associated with brain anomaly and delays in development. ...
PURPOSE: Galloway-Mowat syndrome (GAMOS) is a clinically heterogenous and rare condition classically described as the c …
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. Al-Rakan MA, et al. BMC Ophthalmol. 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4. BMC Ophthalmol. 2018. PMID: 29929488 Free PMC article. Review.
BACKGROUND: Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development …
BACKGROUND: Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and character …
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. Domingo-Gallego A, et al. BMC Nephrol. 2019 Apr 11;20(1):126. doi: 10.1186/s12882-019-1317-y. BMC Nephrol. 2019. PMID: 30975089 Free PMC article. Review.
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. ...
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrot …
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.
Sinha R, Vasudevan A, Agarwal I, Sethi SK, Saha A, Pradhan S, Ekambaram S, Thaker N, Matnani M, Banerjee S, Sharma J, Singhal J, Ashraf S, Mandal K. Sinha R, et al. Nephron. 2020;144(1):21-29. doi: 10.1159/000503303. Epub 2019 Oct 25. Nephron. 2020. PMID: 31655822
Genetic reports available for 15 (23%) children identified causal mutations in 10 (8 in NPHS1 [1 novel variant], 1 in WT 1 [novel variant], and 1 in PLCE-1 gene). In addition, 1 child was clinically diagnosed as Galloway Mowat …
Genetic reports available for 15 (23%) children identified causal mutations in 10 (8 in NPHS1 [1 novel variant], 1 in WT 1 …
Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.
Wang PZT, Prasad C, Rodriguez Cuellar CI, Filler G. Wang PZT, et al. Pediatr Nephrol. 2018 Nov;33(11):2201-2204. doi: 10.1007/s00467-018-4060-x. Epub 2018 Aug 23. Pediatr Nephrol. 2018. PMID: 30141175
BACKGROUND: Galloway-Mowat syndrome (GAMOS) (OMIM #251300) is a severe autosomal recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73 as well as OSG …
BACKGROUND: Galloway-Mowat syndrome (GAMOS) (OMIM #251300) is a severe autosomal recessive disease characterized by the …