Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 21

1.

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.

Eur J Med Genet. 2018 Mar;61(3):134-138. doi: 10.1016/j.ejmg.2017.11.005. Epub 2017 Nov 21.

PMID:
29169895
2.

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.

Neurol Neurochir Pol. 2017 Nov - Dec;51(6):497-500. doi: 10.1016/j.pjnns.2017.06.012. Epub 2017 Jul 8. Review.

PMID:
28826917
3.

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G.

Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8.

4.

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.

PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016.

5.

The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome.

Saini AG, Sankhyan N, Gupta P, Vyas S, Singhi P.

Indian J Pediatr. 2016 Oct;83(10):1204-5. doi: 10.1007/s12098-016-2113-3. Epub 2016 Apr 25. No abstract available.

PMID:
27109391
6.

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.

Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21.

7.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L.

Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21.

8.

Gillespie syndrome with impaired accommodation.

Agarwal PK, Awan MA, Strang N, Dutton GN.

J Pediatr Ophthalmol Strabismus. 2009 Sep-Oct;46(5):317. doi: 10.3928/01913913-20090903-12. No abstract available.

PMID:
19791732
9.

Gillespie syndrome with impaired accommodation.

Agarwal PK, Awan MA, Dutton GN, Strang N.

J Pediatr Ophthalmol Strabismus. 2009 Jan-Feb;46(1):60. No abstract available.

PMID:
19213284
10.

Aniridia among children and teenagers in Sweden and Norway.

Edén U, Beijar C, Riise R, Tornqvist K.

Acta Ophthalmol. 2008 Nov;86(7):730-4. doi: 10.1111/j.1755-3768.2008.01310.x. Epub 2008 May 19. Erratum in: Acta Ophthalmol. 2009 Mar;87(2):242.

11.

Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome.

Mariën P, Brouns R, Engelborghs S, Wackenier P, Verhoeven J, Ceulemans B, De Deyn PP.

Cortex. 2008 Jan;44(1):54-67. doi: 10.1016/j.cortex.2005.12.001. Epub 2007 Nov 17.

PMID:
18387531
12.

Gillespie syndrome: additional findings and parental consanguinity.

Luquetti DV, Oliveira-Sobrinho RP, Gil-da-Silva-Lopes VL.

Ophthalmic Genet. 2007 Jun;28(2):89-93.

PMID:
17558851
13.

Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D.

Ophthalmic Genet. 2006 Dec;27(4):145-9.

PMID:
17148041
14.

Gillespie syndrome: two further cases.

Donald KA, Grotte R, Crutchley AC, Wilmshurst JM.

J Child Neurol. 2006 Apr;21(4):337-40.

PMID:
16900933
15.

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.

Dollfus H, Joanny-Flinois O, Doco-Fenzy M, Veyre L, Joanny-Flinois L, Khoury M, Jonveaux P, Abitbol M, Dufier JL.

Am J Ophthalmol. 1998 Mar;125(3):397-9.

PMID:
9512164
16.

Gillespie syndrome: a report of two further cases.

Nelson J, Flaherty M, Grattan-Smith P.

Am J Med Genet. 1997 Aug 8;71(2):134-8.

PMID:
9217210
17.

Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

Glaser T, Ton CC, Mueller R, Petzl-Erler ML, Oliver C, Nevin NC, Housman DE, Maas RL.

Genomics. 1994 Jan 1;19(1):145-8.

PMID:
8188215
18.

Gillespie syndrome reported as bilateral congenital mydriasis.

Quarrell O.

Br J Ophthalmol. 1993 Dec;77(12):827-8. No abstract available.

19.

Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter.

Verhulst S, Smet H, Ceulemans B, Geerts Y, Tassignon MJ.

Bull Soc Belge Ophtalmol. 1993;250:37-42. Review.

PMID:
7952360
20.

Supplemental Content

Loading ...
Support Center