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Quoted phrase not found in phrase index: "Aniridia, Cerebellar Ataxia, And Intellectual Disability"
Page 1
Aniridia as a clue for the diagnosis of Gillespie syndrome.
Rezende Filho FM, Pedroso JL, Freitas JL, Teixeira LF, Barsottini OGP. Rezende Filho FM, et al. Arq Neuropsiquiatr. 2020 Jun;78(6):383. doi: 10.1590/0004-282X20200013. Arq Neuropsiquiatr. 2020. PMID: 32609195 Free article. No abstract available.
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.
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. ...Recent advances in next-generation sequenci …
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical va …
Aniridia among children and teenagers in Sweden and Norway.
Edén U, Beijar C, Riise R, Tornqvist K. Edén U, et al. Acta Ophthalmol. 2008 Nov;86(7):730-4. doi: 10.1111/j.1755-3768.2008.01310.x. Epub 2008 May 19. Acta Ophthalmol. 2008. PMID: 18494744 Free article.
PURPOSE: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and treatment. ...Th …
PURPOSE: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of ani …
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
BACKGROUND: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP(3) ) receptor type 1 (IP(3) R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), G …
BACKGROUND: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP(3) ) receptor type 1 (IP(3) R1), a critical player in cerebellar …
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.
Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). ...Disruption of PHF21A has previously been implicated in the causatio …
Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris …
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. Keehan L, et al. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949769 Free PMC article.
Gillespie syndrome (GLSP) is characterized by bilateral symmetric partial aplasia of the iris presenting as a fixed and large pupil, cerebellar hypoplasia with ataxia, congenital hypotonia, and varying levels of intellectual disability. ...
Gillespie syndrome (GLSP) is characterized by bilateral symmetric partial aplasia of the iris presenting as a fixed and large pupil, cere …
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H. De Silva D, et al. BMC Pediatr. 2018 Sep 24;18(1):308. doi: 10.1186/s12887-018-1286-5. BMC Pediatr. 2018. PMID: 30249237 Free PMC article.
BACKGROUND: Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. ...She started walking unaided by 9 years …
BACKGROUND: Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridi …
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals with GS recruite …
Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive …
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.
Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM. Carvalho DR, et al. Eur J Med Genet. 2018 Mar;61(3):134-138. doi: 10.1016/j.ejmg.2017.11.005. Epub 2017 Nov 21. Eur J Med Genet. 2018. PMID: 29169895
Gillespie syndrome (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, cerebellar ataxia and intellectual disability. The typical iris anomaly is considered necessary to the diagnosis of GS. ...
Gillespie syndrome (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, cerebellar …
Gillespie syndrome: additional findings and parental consanguinity.
Luquetti DV, Oliveira-Sobrinho RP, Gil-da-Silva-Lopes VL. Luquetti DV, et al. Ophthalmic Genet. 2007 Jun;28(2):89-93. doi: 10.1080/13816810701209495. Ophthalmic Genet. 2007. PMID: 17558851
Aniridia is a rare condition whose presence should alert clinicians to the possibility of other abnormalities. One of the differential diagnoses that should be considered is Gillespie syndrome, in which aniridia is associated with cerebellar ataxia and …
Aniridia is a rare condition whose presence should alert clinicians to the possibility of other abnormalities. One of the differentia …
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