TY  - JOUR
AU  - McEntagart, Meriel
AU  - Williamson, Kathleen A
AU  - Rainger, Jacqueline K
AU  - Wheeler, Ann
AU  - Seawright, Anne
AU  - De Baere, Elfride
AU  - Verdin, Hannah
AU  - Bergendahl, L Therese
AU  - Quigley, Alan
AU  - Rainger, Joe
AU  - Dixit, Abhijit
AU  - Sarkar, Ajoy
AU  - López Laso, Eduardo
AU  - Sanchez-Carpintero, Rocio
AU  - Barrio, Jesus
AU  - Bitoun, Pierre
AU  - Prescott, Trine
AU  - Riise, Ruth
AU  - McKee, Shane
AU  - Cook, Jackie
AU  - McKie, Lisa
AU  - Ceulemans, Berten
AU  - Meire, Françoise
AU  - Temple, I Karen
AU  - Prieur, Fabienne
AU  - Williams, Jonathan
AU  - Clouston, Penny
AU  - Németh, Andrea H
AU  - Banka, Siddharth
AU  - Bengani, Hemant
AU  - Handley, Mark
AU  - Freyer, Elisabeth
AU  - Ross, Allyson
AU  - DDD Study
AU  - van Heyningen, Veronica
AU  - Marsh, Joseph A
AU  - Elmslie, Frances
AU  - FitzPatrick, David R
PY  - 2016
DO  - 10.1016/j.ajhg.2016.03.018
UR  - http://hdl.handle.net/10668/10019
T2  - American journal of human genetics
AB  - Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals...
LA  - en
KW  - ACTA2
KW  - ITPR1
KW  - aniridia
KW  - calcium
KW  - cerebellar ataxia
KW  - cerebellar hypoplasia
KW  - cerebellar vermis
KW  - inositol triphosphate
KW  - iris
KW  - Adolescent
KW  - Adult
KW  - Animals
KW  - Aniridia
KW  - Cells, Cultured
KW  - Cerebellar Ataxia
KW  - Child
KW  - Female
KW  - Genes, Dominant
KW  - Humans
KW  - Inositol 1,4,5-Trisphosphate Receptors
KW  - Intellectual Disability
KW  - Lymphocytes
KW  - Male
KW  - Mice
KW  - Microscopy, Confocal
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Protein Conformation
TI  - A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
TY  - research article
VL  - 98
ER  -