Literature DB >> 19213284

Gillespie syndrome with impaired accommodation.

Pankaj Kumar Agarwal, Muhammad Amer Awan, Gordon N Dutton, Niall Strang.   

Abstract

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Year:  2009        PMID： 19213284     DOI： 10.3928/01913913-20090101-10

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


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  2 in total

1.  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.  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.

Authors:  Daham De Silva; Kathleen A Williamson; Kavinda Chandimal Dayasiri; Nayani Suraweera; Vinushiya Quinters; Hiranya Abeysekara; Jithangi Wanigasinghe; Deepthi De Silva; Harendra De Silva
Journal:  BMC Pediatr       Date:  2018-09-24       Impact factor: 2.125
  2 in total

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