Literature DB >> 7509186

Gillespie syndrome reported as bilateral congenital mydriasis.

O Quarrell.   

Abstract

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Year:  1993        PMID： 7509186      PMCID： PMC504673          DOI： 10.1136/bjo.77.12.827-c

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  8 in total

1.  Bilateral congenital mydriasis.

Authors:  W C Caccamise; P L Townes
Journal:  Am J Ophthalmol       Date:  1976-04       Impact factor: 5.258

2.  Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.

Authors:  M D Crawfurd; R B Harcourt; P A Shaw
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318

3.  The syndrome of congenital cerebellar ataxia, aniridia and mental retardation.

Authors:  J K Sarsfield
Journal:  Dev Med Child Neurol       Date:  1971-08       Impact factor: 5.449

4.  Ataxia with aniridia of Gillespie: a case report.

Authors:  R Lechtenberg; C Ferretti
Journal:  Neurology       Date:  1981-01       Impact factor: 9.910

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

Authors:  J François; F Lentini; F de Rouck
Journal:  Ophthalmic Paediatr Genet       Date:  1984-04

6.  Bilateral congenital mydriasis.

Authors:  P Richardson; W E Schulenburg
Journal:  Br J Ophthalmol       Date:  1992-10       Impact factor: 4.638

7.  Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.

Authors:  E O Wittig; C A Moreira; N Freire-Maia; A M Vianna-Morgante
Journal:  Am J Med Genet       Date:  1988-07

8.  Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome.

Authors:  N C Nevin; J H Lim
Journal:  Am J Med Genet       Date:  1990-04
  8 in total
  2 in total

1.  Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Authors:  Sylvie Gerber; Kamil J Alzayady; Lydie Burglen; Dominique Brémond-Gignac; Valentina Marchesin; Olivier Roche; Marlène Rio; Benoit Funalot; Raphaël Calmon; Alexandra Durr; Vera Lucia Gil-da-Silva-Lopes; Maria Fernanda Ribeiro Bittar; Christophe Orssaud; Bénédicte Héron; Edward Ayoub; Patrick Berquin; Nadia Bahi-Buisson; Christine Bole; Cécile Masson; Arnold Munnich; Matias Simons; Marion Delous; Helene Dollfus; Nathalie Boddaert; Stanislas Lyonnet; Josseline Kaplan; Patrick Calvas; David I Yule; Jean-Michel Rozet; Lucas Fares Taie
Journal:  Am J Hum Genet       Date:  2016-04-21       Impact factor: 11.025

2.  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
  2 in total

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