Literature DB >> 6544390

Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).

J François, F Lentini, F de Rouck.   

Abstract

Two sisters presenting with a Gillespie's syndrome are reported. This autosomal recessive syndrome is characterized by a circumpupillary aplasia of the iris, non-progressive cerebellar ataxia and oligophrenia.

Entities:  

Mesh：

Year:  1984        PMID： 6544390     DOI： 10.3109/13816818409009891

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  5 in total

1.  Gillespie syndrome reported as bilateral congenital mydriasis.

Authors:  O Quarrell
Journal:  Br J Ophthalmol       Date:  1993-12       Impact factor: 4.638

2.  A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.

Authors:  Fang Cheng; Wulian Song; Yang Kang; Shihui Yu; Huiping Yuan
Journal:  Mol Vis       Date:  2011-02-10       Impact factor: 2.367

3.  A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Authors:  Meriel McEntagart; Kathleen A Williamson; Jacqueline K Rainger; Ann Wheeler; Anne Seawright; Elfride De Baere; Hannah Verdin; L Therese Bergendahl; Alan Quigley; Joe Rainger; Abhijit Dixit; Ajoy Sarkar; Eduardo López Laso; Rocio Sanchez-Carpintero; Jesus Barrio; Pierre Bitoun; Trine Prescott; Ruth Riise; Shane McKee; Jackie Cook; Lisa McKie; Berten Ceulemans; Françoise Meire; I Karen Temple; Fabienne Prieur; Jonathan Williams; Penny Clouston; Andrea H Németh; Siddharth Banka; Hemant Bengani; Mark Handley; Elisabeth Freyer; Allyson Ross; Veronica van Heyningen; Joseph A Marsh; Frances Elmslie; David R FitzPatrick
Journal:  Am J Hum Genet       Date:  2016-04-21       Impact factor: 11.025

4.  Mutation analysis of paired box 6 gene in inherited aniridia in northern China.

Authors:  Peng Chen; Xinjie Zang; Dapeng Sun; Ye Wang; Yao Wang; Xiaowen Zhao; Mohan Zhang; Lixin Xie
Journal:  Mol Vis       Date:  2013-05-30       Impact factor: 2.367

5.  Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Authors:  Morad Ansari; Jacqueline Rainger; Isabel M Hanson; Kathleen A Williamson; Freddie Sharkey; Louise Harewood; Angela Sandilands; Jill Clayton-Smith; Helene Dollfus; Pierre Bitoun; Francoise Meire; Judy Fantes; Brunella Franco; Birgit Lorenz; David S Taylor; Fiona Stewart; Colin E Willoughby; Meriel McEntagart; Peng Tee Khaw; Carol Clericuzio; Lionel Van Maldergem; Denise Williams; Ruth Newbury-Ecob; Elias I Traboulsi; Eduardo D Silva; Mukhlis M Madlom; David R Goudie; Brian W Fleck; Dagmar Wieczorek; Juergen Kohlhase; Alice D McTrusty; Carol Gardiner; Christopher Yale; Anthony T Moore; Isabelle Russell-Eggitt; Lily Islam; Melissa Lees; Philip L Beales; Stephen J Tuft; Juan B Solano; Miranda Splitt; Jens Michael Hertz; Trine E Prescott; Deborah J Shears; Ken K Nischal; Martine Doco-Fenzy; Fabienne Prieur; I Karen Temple; Katherine L Lachlan; Giuseppe Damante; Danny A Morrison; Veronica van Heyningen; David R FitzPatrick
Journal:  PLoS One       Date:  2016-04-28       Impact factor: 3.240
  5 in total

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