Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: CASK[original query] |
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The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of medical genetics 2014 Oct 51 (10): 677-88. Asadollahi Reza, Oneda Beatrice, Joset Pascal, Azzarello-Burri Silvia, Bartholdi Deborah, Steindl Katharina, Vincent Marie, Cobilanschi Joana, Sticht Heinrich, Baldinger Rosa, Reissmann Regina, Sudholt Irene, Thiel Christian T, Ekici Arif B, Reis André, Bijlsma Emilia K, Andrieux Joris, Dieux Anne, FitzPatrick David, Ritter Susanne, Baumer Alessandra, Latal Beatrice, Plecko Barbara, Jenni Oskar G, Rauch Ani |
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet journal of rare diseases 2014 9 (1): 23. Eggens Veerle Rc, Barth Peter G, Niermeijer Jikke-Mien F, Berg Jonathan N, Darin Niklas, Dixit Abhijit, Fluss Joel, Foulds Nicola, Fowler Darren, Hortobágyi Tibor, Jacques Thomas, King Mary D, Makrythanasis Periklis, Máté Adrienn, Nicoll James A R, O'Rourke Declan, Price Sue, Williams Andrew N, Wilson Louise, Suri Mohnish, Sztriha Laszlo, Dijns-de Wissel Marit B, van Meegen Mia T, van Ruissen Fred, Aronica Eleonora, Troost Dirk, Majoie Charles Blm, Marquering Henk A, Poll-Thé Bwee Tien, Baas Fra |
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. Investigative ophthalmology & visual science 2015 Mar 56 (3): 1701-10. AlMoallem Basamat, Bauwens Miriam, Walraedt Sophie, Delbeke Patricia, De Zaeytijd Julie, Kestelyn Philippe, Meire Françoise, Janssens Sandra, van Cauwenbergh Caroline, Verdin Hannah, Hooghe Sally, Kumar Thakur Prasoon, Coppieters Frauke, De Leeneer Kim, Devriendt Koenraad, Leroy Bart P, De Baere Elfri |
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PloS one 2017 8 12 (8): e0181791. Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh |
Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy. Frontiers in neurology 2018 12 9 947. Kessi Miriam, Xiong Juan, Wu Liwen, Yang Lifen, He Fang, Chen Chen, Pang Nan, Duan Haolin, Zhang Wen, Arafat Ahmed, Yin Fei, Peng Ji |
Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the Greek population. Journal of assisted reproduction and genetics 2020 Sep . Kyrgiafini Maria-Anna, Markantoni Maria, Sarafidou Theologia, Chatziparasidou Alexia, Christoforidis Nicolas, Mamuris Ziss |
A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study. The journal of headache and pain 2021 Jun 22 (1): 57. Alves-Ferreira Miguel, Quintas Marlene, Sequeiros Jorge, Sousa Alda, Pereira-Monteiro José, Alonso Isabel, Neto João Luís, Lemos Caroli |
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia. Neuropediatrics 2021 4 52 (6): 484-488. Ciaccio Claudia, Leonardi Emanuela, Polli Roberta, Murgia Alessandra, D'Arrigo Stefano, Granocchio Elisa, Chiapparini Luisa, Pantaleoni Chiara, Esposito Silv |
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain : a journal of neurology 2022 4 145 (8): 2704-2720. Lai Dulcie, Gade Meethila, Yang Edward, Koh Hyun Yong, Lu Jinfeng, Walley Nicole M, Buckley Anne F, Sands Tristan T, Akman Cigdem I, Mikati Mohamad A, McKhann Guy M, Goldman James E, Canoll Peter, Alexander Allyson L, Park Kristen L, Von Allmen Gretchen K, Rodziyevska Olga, Bhattacharjee Meenakshi B, Lidov Hart G W, Vogel Hannes, Grant Gerald A, Porter Brenda E, Poduri Annapurna H, Crino Peter B, Heinzen Erin |
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype. Italian journal of pediatrics 2023 8 49 (1): 99. Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadel |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability. Molecular neurobiology 2023 4 . Mirgul Bayanova, Aidos K Bolatov, Assiya Bazenova, Lyazzat Nazarova, Alissa Nauryzbayeva, Naanlep Matthew Tanko, Saule Rakhimova, Nazerke Satvaldina, Diana Samakyzy, Ulan Kozhamkulov, Ulykbek Kairov, Ainur Akilzhanova, Dos Sarbass |
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- Page last updated:Apr 22, 2024
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