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Renal coloboma syndrome.
Schimmenti LA. Schimmenti LA. Eur J Hum Genet. 2011 Dec;19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654726 Free PMC article. Review.
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. ...
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition char
[Infrequent mutation in renal-coloboma syndrome: case report and review].
Ruiz Del Olmo Izuzquiza I, Romero Salas Y, Rodríguez Valle A, González Viejo I, Justa Roldán ML. Ruiz Del Olmo Izuzquiza I, et al. Arch Argent Pediatr. 2018 Feb 1;116(1):e106-e109. doi: 10.5546/aap.2018.e106. Arch Argent Pediatr. 2018. PMID: 29333833 Free article. Review. Spanish.
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. ...Genetic study showed de novo and non sense mutation p.R104X in heterocygosis. Currently there are 80 published cases of renal-coloboma
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. ...Genetic
Ocular manifestations of renal ciliopathies.
Salehi O, Mack H, Colville D, Lewis D, Savige J. Salehi O, et al. Pediatr Nephrol. 2024 May;39(5):1327-1346. doi: 10.1007/s00467-023-06096-5. Epub 2023 Aug 30. Pediatr Nephrol. 2024. PMID: 37644229 Free PMC article. Review.
However, other kidney syndromes with cysts have ocular features including papillorenal syndrome (optic disc dysplasia), Hereditary Angiopathy Nephropathy, Aneurysms and muscle Cramps (HANAC) (tortuous retinal vessels), tuberous sclerosis (retinal hamartomas), von Hi …
However, other kidney syndromes with cysts have ocular features including papillorenal syndrome (optic disc dysplasia), Heredi …
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.
Eccles MR, Schimmenti LA. Eccles MR, et al. Clin Genet. 1999 Jul;56(1):1-9. doi: 10.1034/j.1399-0004.1999.560101.x. Clin Genet. 1999. PMID: 10466411 Review.
Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( # 120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene …
Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( # 120330 in McKusick's Mendelia …
PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.
Muntean C, Chirtes C, Baczoni B, Banescu C. Muntean C, et al. Int J Mol Sci. 2023 Aug 13;24(16):12737. doi: 10.3390/ijms241612737. Int J Mol Sci. 2023. PMID: 37628926 Free PMC article. Review.
The first reported cases described with the PAX2 mutation included both renal anomalies and the involvement of other organs, such as the eyes, producing renal coloboma syndrome. Over the years, numerous cases have been reported, including those with only rena …
The first reported cases described with the PAX2 mutation included both renal anomalies and the involvement of other organs, such as the eye …
A molecular and genetic view of human renal and urinary tract malformations.
Woolf AS. Woolf AS. Kidney Int. 2000 Aug;58(2):500-12. doi: 10.1046/j.1523-1755.2000.00196.x. Kidney Int. 2000. PMID: 10916073 Free article. Review.
Some of these disorders are associated with congenital anomalies in multiple organ systems, and two such syndromes are considered in detail: first, the renal-coloboma syndrome, in which mutations of the PAX2 transcription factor cause partial failure of urina …
Some of these disorders are associated with congenital anomalies in multiple organ systems, and two such syndromes are considered in detail: …
Pax genes and organogenesis.
Dahl E, Koseki H, Balling R. Dahl E, et al. Bioessays. 1997 Sep;19(9):755-65. doi: 10.1002/bies.950190905. Bioessays. 1997. PMID: 9297966 Review.
Mutations in four out of nine characterized Pax genes have been associated with either congenital human diseases such as Waardenburg syndrome (PAX3), Aniridia (PAX6), Peter's anomaly (PAX6), renal coloboma syndrome (PAX2) or spontaneous mouse mutants (undulat …
Mutations in four out of nine characterized Pax genes have been associated with either congenital human diseases such as Waardenburg syndrom …
[The role of Pax2 in regulation of kidney development and kidney disease].
Hou XM, Chen X, Wang YL. Hou XM, et al. Yi Chuan. 2011 Sep;33(9):931-8. doi: 10.3724/sp.j.1005.2011.00931. Yi Chuan. 2011. PMID: 21951793 Review. Chinese.
Pax2 is associated with various congenital renal and ureter malformations, and the mutation is easist to detected in Renal-coloboma syndrome. In renal cell carcinoma, Wilms tumor and many acquired kidney diseases Pax2 is expressed abnormally, whose diagnose a …
Pax2 is associated with various congenital renal and ureter malformations, and the mutation is easist to detected in Renal-colobom
Cavitary anomalies of the optic disc: neurologic significance.
Golnik KC. Golnik KC. Curr Neurol Neurosci Rep. 2008 Sep;8(5):409-13. doi: 10.1007/s11910-008-0063-5. Curr Neurol Neurosci Rep. 2008. PMID: 18713577 Review.
Cavitary congenital optic disc anomalies include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Peripapillary staphyloma is occasionally included in this group but it does not represent an anomaly of the optic disc itself …
Cavitary congenital optic disc anomalies include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI. Fletcher J, et al. J Am Soc Nephrol. 2005 Sep;16(9):2754-61. doi: 10.1681/ASN.2005030239. Epub 2005 Jul 27. J Am Soc Nephrol. 2005. PMID: 16049068 Review.
The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. ...The possibility that abnormal PAX2 protein in this case may cause a dominant negative effect also is discussed. The finding of multicystic dysplastic kidney in renal
The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. ...The possibility that abnormal PAX …
12 results