Literature DB >> 14246186

ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.

F D GILLESPIE.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; ATAXIA; CEREBELLAR DISEASES; GENETICS, HUMAN; IRIS; MENTAL RETARDATION

Mesh：

Year:  1965        PMID： 14246186     DOI： 10.1001/archopht.1965.00970030340008

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  14 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 aspects of congenital cerebellar ataxia.

Authors:  D Kumar
Journal:  Indian J Pediatr       Date:  1986 Nov-Dec       Impact factor: 1.967

3.  Genetical aspects of severe visual impairment in childhood.

Authors:  G R Fraser
Journal:  J Med Genet       Date:  1970-09       Impact factor: 6.318

4.  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

5.  Hereditary spastic ataxia with congenital miosis: four cases in one family.

Authors:  D J Dick; P K Newman; P G Cleland
Journal:  Br J Ophthalmol       Date:  1983-02       Impact factor: 4.638

Review 6.  Aniridia: recent achievements in paediatric practice.

Authors:  I Ivanov; A Shuper; M Shohat; M Snir; R Weitz
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

7.  Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.

Authors:  R E Ferrell; A Chakravarti; H M Hittner; V M Riccardi
Journal:  Proc Natl Acad Sci U S A       Date:  1980-03       Impact factor: 11.205

8.  A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

Authors:  Laura Keehan; Ming-Ming Jiang; Xiaohui Li; Ronit Marom; Hongzheng Dai; David Murdock; Pengfei Liu; Jill V Hunter; Jason D Heaney; Laurie Robak; Lisa Emrick; Timothy Lotze; Lauren S Blieden; Richard Alan Lewis; Alex V Levin; Jenina Capasso; William J Craigen; Jill A Rosenfeld; Brendan Lee; Lindsay C Burrage
Journal:  Am J Med Genet A       Date:  2021-05-05       Impact factor: 2.578

9.  Esophageal dysmotility in gillespie syndrome.

Authors:  Bruna Dell'acqua Cassão; Daniel Tavares de Rezende; Luciana C Silva; Fernando A M Herbella
Journal:  J Neurogastroenterol Motil       Date:  2013-10-07       Impact factor: 4.924

10.  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
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