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Neurological involvement in monogenic podocytopathies.
Boyer O, Mollet G, Dorval G. Boyer O, et al. Pediatr Nephrol. 2021 Nov;36(11):3571-3583. doi: 10.1007/s00467-020-04903-x. Epub 2021 Mar 31. Pediatr Nephrol. 2021. PMID: 33791874 Review.
Variants in genes expressed in different compartments of the podocyte and neurons are responsible for phenotypes associating kidney lesions with proteinuria (mainly Focal and Segmental Glomerulosclerosis (FSGS) or Diffuse Mesangial Sclerosis (DMS)) and central and/or peripheral n …
Variants in genes expressed in different compartments of the podocyte and neurons are responsible for phenotypes associating kidney lesions …
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 …
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 …
The structural and functional workings of KEOPS.
Beenstock J, Sicheri F. Beenstock J, et al. Nucleic Acids Res. 2021 Nov 8;49(19):10818-10834. doi: 10.1093/nar/gkab865. Nucleic Acids Res. 2021. PMID: 34614169 Free PMC article. Review.
KEOPS (Kinase, Endopeptidase and Other Proteins of Small size) is a five-subunit protein complex that is highly conserved in eukaryotes and archaea and is essential for the fitness of cells and for animal development. In humans, mutations in KEOPS genes underlie Galloway- …
KEOPS (Kinase, Endopeptidase and Other Proteins of Small size) is a five-subunit protein complex that is highly conserved in eukaryotes and …
Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology.
Cohen AH, Turner MC. Cohen AH, et al. Kidney Int. 1994 May;45(5):1407-15. doi: 10.1038/ki.1994.184. Kidney Int. 1994. PMID: 8072253 Free article. Review.
The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with hypotonia and developmental delay, often hiatus hernia, and nephrotic syndrome manifested in infancy or in early childhood. ...
The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with hypotonia and …
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
Pezzella M, Yeghiazaryan NS, Veggiotti P, Bettinelli A, Giudizioso G, Zara F, Striano P, Minetti C. Pezzella M, et al. Seizure. 2010 Mar;19(2):132-5. doi: 10.1016/j.seizure.2009.12.002. Epub 2010 Jan 18. Seizure. 2010. PMID: 20083416 Free article. Review.
Galloway-Mowat Syndrome (GMS) is an autosomal recessively inherited condition which manifests with severe encephalopathy, featuring microcephaly, developmental delay, and early-onset intractable epilepsy. ...
Galloway-Mowat Syndrome (GMS) is an autosomal recessively inherited condition which manifests with severe encephalopath
Conservation and Diversification of tRNA t6A-Modifying Enzymes across the Three Domains of Life.
Su C, Jin M, Zhang W. Su C, et al. Int J Mol Sci. 2022 Nov 6;23(21):13600. doi: 10.3390/ijms232113600. Int J Mol Sci. 2022. PMID: 36362385 Free PMC article. Review.
Pathogenic mutations of YRDC, OSGEPL1 and KEOPS are implicated in a number of human mitochondrial and neurological diseases, including autosomal recessive Galloway-Mowat syndrome. The molecular mechanisms underscoring both the biosynthesis and cellular roles …
Pathogenic mutations of YRDC, OSGEPL1 and KEOPS are implicated in a number of human mitochondrial and neurological diseases, including autos …
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.
Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM. Zenker M, et al. Am J Med Genet A. 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. Am J Med Genet A. 2004. PMID: 15372515 Review.
We propose that this syndrome should be designated microcoria-congenital nephrosis syndrome or Pierson syndrome. Possible overlap with Galloway-Mowat syndrome and relations to other oculo-renal syndromes are discussed....
We propose that this syndrome should be designated microcoria-congenital nephrosis syndrome or Pierson syndrome. Possible overlap with Ga