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The genetic architecture of aniridia and Gillespie syndrome.
Hall HN, Williamson KA, FitzPatrick DR. Hall HN, et al. Hum Genet. 2019 Sep;138(8-9):881-898. doi: 10.1007/s00439-018-1934-8. Epub 2018 Sep 22. Hum Genet. 2019. PMID: 30242502 Free PMC article. Review.
Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome-a triad of partial aniridia, non-progressive cerebellar ataxia and intellectual disability-is phenotypically and genotypically distinct from classical aniridia. The ca …
Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome-a triad of partial aniridia …
Pathophysiological consequences of isoform-specific IP3 receptor mutations.
Kerkhofs M, Seitaj B, Ivanova H, Monaco G, Bultynck G, Parys JB. Kerkhofs M, et al. Biochim Biophys Acta Mol Cell Res. 2018 Nov;1865(11 Pt B):1707-1717. doi: 10.1016/j.bbamcr.2018.06.004. Epub 2018 Jun 12. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29906486 Free article. Review.
Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M. Blanco-Kelly F, et al. Arch Soc Esp Oftalmol (Engl Ed). 2021 Nov;96 Suppl 1:4-14. doi: 10.1016/j.oftale.2021.02.002. Epub 2021 Oct 22. Arch Soc Esp Oftalmol (Engl Ed). 2021. PMID: 34836588 Review.
Some patients with atypical phenotypes might present mutations in FOXC1 and PITX2, both genes causing a wide spectrum of anterior segment dysgenesis, or in ITPR1, which is responsible for a distinctive form of circumpupillary iris aplasia present in Gillespie syndrome …
Some patients with atypical phenotypes might present mutations in FOXC1 and PITX2, both genes causing a wide spectrum of anterior segment dy …
[Congenital aniridia in children].
Bremond-Gignac D. Bremond-Gignac D. Rev Prat. 2019 Jan;69(1):67-70. Rev Prat. 2019. PMID: 30983291 Review. French.
These different syndromes are to be detected rapidly at risk of nephroblastoma in WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies, mental retardation) or cerebellar ataxia in Gillespie syndrome. The diagnosis is mostly performed in infants. Congenital …
These different syndromes are to be detected rapidly at risk of nephroblastoma in WAGR syndrome (Wilms' tumor, aniridia, genitourinary anoma …
Sulforophane glucosinolate. Monograph.
[No authors listed] [No authors listed] Altern Med Rev. 2010 Dec;15(4):352-60. Altern Med Rev. 2010. PMID: 21194251 Review. No abstract available.
[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician].
Bremond-Gignac D, Robert M, Daruich A, Borderie V, Chiambaretta F, Valleix S; Groupe Rédacteur Relecteur PNDS Aniridie. Bremond-Gignac D, et al. J Fr Ophtalmol. 2022 Jun;45(6):647-652. doi: 10.1016/j.jfo.2022.01.005. J Fr Ophtalmol. 2022. PMID: 35667788 Review. French.
A syndromic form such as WAGR syndrome, WAGRO syndrome (due to the risk of renal Wilms tumor) or Gillespie syndrome (cerebellar ataxia) must be ruled out. Systemic associations may include diabetes, due to expression of the PAX6 gene in the pancreas, as well as othe …
A syndromic form such as WAGR syndrome, WAGRO syndrome (due to the risk of renal Wilms tumor) or Gillespie syndrome (cerebella …
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter.
Verhulst S, Smet H, Ceulemans B, Geerts Y, Tassignon MJ. Verhulst S, et al. Bull Soc Belge Ophtalmol. 1993;250:37-42. Bull Soc Belge Ophtalmol. 1993. PMID: 7952360 Review.
Two new cases of Gillespie syndrome in a mother and daughter are presented. This syndrome is characterised by partial aniridia, cerebellar ataxia and mental retardation....
Two new cases of Gillespie syndrome in a mother and daughter are presented. This syndrome is characterised by partial aniridia …
Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.
Das J, Lilleker J, Shereef H, Ealing J. Das J, et al. Neurol Neurochir Pol. 2017 Nov-Dec;51(6):497-500. doi: 10.1016/j.pjnns.2017.06.012. Epub 2017 Jul 8. Neurol Neurochir Pol. 2017. PMID: 28826917 Review.
Several neurological conditions have been associated with ITPR1 mutations, such as spinocerebellar ataxia type 15 and Gillespie syndrome, and the phenotype may vary according to the location and type of mutations. Spinocerebellar ataxia type 15 is an autosomal domin …
Several neurological conditions have been associated with ITPR1 mutations, such as spinocerebellar ataxia type 15 and Gillespie sy …