Human Genome Epidemiology Literature Finder
|
Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and ITPR1[original query] |
|---|
| GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans. BMC genomics 2016 Apr 17 276. Chittoor Geetha, Kent Jack W, Almeida Marcio, Puppala Sobha, Farook Vidya S, Cole Shelley A, Haack Karin, Göring Harald H H, MacCluer Jean W, Curran Joanne E, Carless Melanie A, Johnson Matthew P, Moses Eric K, Almasy Laura, Mahaney Michael C, Lehman Donna M, Duggirala Ravindranath, Comuzzie Anthony G, Blangero John, Voruganti Venkata Saro |
| ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia. Cerebellum & ataxias 2016 3 2. Shadrina M I, Shulskaya M V, Klyushnikov S A, Nikopensius T, Nelis M, Kivistik P A, Komar A A, Limborska S A, Illarioshkin S N, Slominsky P |
| A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
| Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. PloS one 2018 13 (7): e0200446. Santoro Claudia, Giugliano Teresa, Kraemer Markus, Torella Annalaura, Schwitalla Jan Claudius, Cirillo Mario, Melis Daniela, Berlit Peter, Nigro Vincenzo, Perrotta Silverio, Piluso Giul |
| De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. European journal of human genetics : EJHG 2018 Nov 26 (11): 1623-1634. Synofzik Matthis, Helbig Katherine L, Harmuth Florian, Deconinck Tine, Tanpaiboon Pranoot, Sun Bo, Guo Wenting, Wang Ruiwu, Palmaer Erika, Tang Sha, Schaefer G Bradley, Gburek-Augustat Janina, Züchner Stephan, Krägeloh-Mann Ingeborg, Baets Jonathan, de Jonghe Peter, Bauer Peter, Chen S R Wayne, Schöls Ludger, Schüle Rebec |
| Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease. Genome medicine 2020 8 12 (1): 76. Izarzugaza Jose M G, Ellesøe Sabrina G, Doganli Canan, Ehlers Natasja Spring, Dalgaard Marlene D, Audain Enrique, Dombrowsky Gregor, Banasik Karina, Sifrim Alejandro, Wilsdon Anna, Thienpont Bernard, Breckpot Jeroen, Gewillig Marc, , Brook J David, Hitz Marc-Phillip, Larsen Lars A, Brunak Sør |
| Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. Alzheimer's research & therapy 2020 11 12 (1): 156. Seo Jieun, Byun Min Soo, Yi Dahyun, Lee Jun Ho, Jeon So Yeon, Shin Seong A, Kim Yu Kyeong, Kang Koung Mi, Sohn Chul-Ho, Jung Gijung, Park Jong-Chan, Han Sun-Ho, Byun Jayoung, Mook-Jung Inhee, Lee Dong Young, Choi Murim, |
| Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. Neurology. Genetics 2023 12 9 (1): e200050. Fatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, Corien C Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J de Vries, Birgit Sikkema-Raddatz, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
| Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. Neurology. Genetics 2024 4 10 (3): e200153. Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando G Barsottini, José Luiz Pedro |
| Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia. International journal of molecular sciences 2024 10 25 (20): . Fatemeh Ghorbani, Eddy N de Boer, Michiel R Fokkens, Jelkje de Boer-Bergsma, Corien C Verschuuren-Bemelmans, Elles Wierenga, Hamidreza Kasaei, Daan Noordermeer, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
- Page last reviewed:Feb 1, 2024
- Content source: