Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 23 (of 23 Records) |
Query Trace: Lissencephaly 1[original query] |
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Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean Spain: a preliminary study. Neuroscience 2006 139 (4): 1289-300. Tabarés-Seisdedos R, Escámez T, Martínez-Giménez J A, Balanzá V, Salazar J, Selva G, Rubio C, Vieta E, Geijó-Barrientos E, Martínez-Arán A, Reiner O, Martínez |
The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics 2008 Oct 9 (4): 277-85. Leger Pierre-Louis, Souville Isabelle, Boddaert Nathalie, Elie Caroline, Pinard Jean Marc, Plouin Perrine, Moutard Marie Laure, des Portes Vincent, Van Esch Hilde, Joriot Sylvie, Renard Jean Louis, Chelly Jamel, Francis Fiona, Beldjord Cherif, Bahi-Buisson Nad |
Evidence for association between structural variants in lissencephaly-related genes and executive deficits in schizophrenia or bipolar patients from a Spanish isolate population. Psychiatric genetics 2008 Dec 18 (6): 313-7. Tabarés-Seisdedos Rafael, Mata Ignacio, Escámez Teresa, Vieta Eduard, López-Ilundain Jose M, Salazar Jose, Selva Gabriel, Balanzá Vicente, Rubio Cristina, Martínez-Arán Anabel, Valdés-Sánchez Lourdes, Geijo-Barrientos Emilio, Martínez Salvad |
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clinical genetics 2008 Nov 74 (5): 425-33. Morris-Rosendahl D J, Najm J, Lachmeijer A M A, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap M S, Schuierer G, Kutsche K, Uyanik |
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Archives of neurology 2009 Aug 66 (8): 1007-15. Saillour Yoann, Carion Nathalie, Quelin Chloé, Leger Pierre-Louis, Boddaert Nathalie, Elie Caroline, Toutain Annick, Mercier Sandra, Barthez Marie Anne, Milh Mathieu, Joriot Sylvie, des Portes Vincent, Philip Nicole, Broglin Dominique, Roubertie Agathe, Pitelet Gaelle, Moutard Marie Laure, Pinard Jean Marc, Cances Claude, Kaminska Anna, Chelly Jamel, Beldjord Chérif, Bahi-Buisson Nad |
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC medical genetics 2014 15 (1): 62. Du Xiaonan, An Yu, Yu Lifei, Liu Renchao, Qin Yanrong, Guo Xiaohong, Sun Daokan, Zhou Shuizhen, Wu Bailin, Jiang Yong-Hui, Wang |
Rare ACTG1 variants in fetal microlissencephaly. European journal of medical genetics 2015 Aug 58 (8): 416-8. Poirier Karine, Martinovic Jelena, Laquerrière Annie, Cavallin Mara, Fallet-Bianco Catherine, Desguerre Isabelle, Valence Stephanie, Grande-Goburghun Jocelyne, Francannet Christine, Deleuze Jean-François, Boland Anne, Chelly Jamel, Bahi-Buisson Nad |
A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract. Meta gene 2016 Sep 9 124-7. Hertecant Jozef, Komara Makanko, Nagi Aslam, Suleiman Jehan, Al-Gazali Lihadh, Ali Bassam |
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. American journal of medical genetics. Part A 2016 May . Di Donato Nataliya, Kuechler Alma, Velgano Samantha, Heinritz Wolfram, Bodurtha Joann, Merchant Sabiha R, Breningstall Galen, Ladda Roger, Sell Susan, Altmüller Janine, Bögershausen Nina, Timms Andrew E, Hackmann Karl, Schrock Evelin, Collins Sarah, Olds Carissa, Rump Andreas, Dobyns William |
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. PloS one 2017 9 12 (9): e0185103. González-Morón Dolores, Vishnopolska Sebastián, Consalvo Damián, Medina Nancy, Marti Marcelo, Córdoba Marta, Vazquez-Dusefante Cecilia, Claverie Santiago, Rodríguez-Quiroga Sergio Alejandro, Vega Patricia, Silva Walter, Kochen Silvia, Kauffman Marcelo Andr |
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2017 Nov 1-4. Hewson Stacy, Brunga Ledia, Ojeda Matilde Fernandez, Imhof Elizabeth, Patel Jaina, Zak Maria, Donner Elizabeth J, Kobayashi Jeff, Salomons Gajja S, Mercimek-Andrews Saad |
The functional polymorphisms of LIS1 are associated with acute myeloid leukemia risk in a Han Chinese population. Leukemia research 2017 Jan 54 7-11. Cao Songyu, Lu Xiaomei, Wang Lihua, Qian Xifeng, Jin Guangfu, Ma Hongx |
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. Brain & development 2018 8 41 (1): 29-35. Shi Chang-He, Zhang Shuo, Yang Zhi-Hua, Liu Yu-Tao, Li Yu-Sheng, Li Zhuo, Hu Zheng-Wei, Xu Yu-Mi |
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr . Di Donato Nataliya, Timms Andrew E, Aldinger Kimberly A, Mirzaa Ghayda M, Bennett James T, Collins Sarah, Olds Carissa, Mei Davide, Chiari Sara, Carvill Gemma, Myers Candace T, Rivière Jean-Baptiste, Zaki Maha S, , Gleeson Joseph G, Rump Andreas, Conti Valerio, Parrini Elena, Ross M Elizabeth, Ledbetter David H, Guerrini Renzo, Dobyns William |
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. European journal of human genetics : EJHG 2019 3 27 (8): 1235-1243. Polla Daniel L, Rahikkala Elisa, Bode Michaela K, Määttä Tuomo, Varilo Teppo, Loman Thyrza, Philips Anju K, Kurki Mitja, Palotie Aarno, Körkkö Jarmo, Vieira Päivi, Avela Kristiina, Jacquemin Valérie, Pirson Isabelle, Abramowicz Marc, de Brouwer Arjan P M, Kuismin Outi, van Bokhoven Hans, Järvelä Ir |
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development Turkish journal of medical sciences 2020 Jul . Aksel KiliÇarslan Özge, Ataman Esra, GÜrsoy Semra, GÜrbÜz GÜrkan, Ünalp Aycan, GenÇpinar Pinar, OlgaÇ DÜndar NIhal, EdIzer SelvInaz, Ülgenalp Ayfer, GIray Bozkaya Özl |
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. Seizure 2020 6 80 145-152. Accogli Andrea, Severino Mariasavina, Riva Antonella, Madia Francesca, Balagura Ganna, Iacomino Michele, Carlini Barbara, Baldassari Simona, Giacomini Thea, Croci Carolina, Pisciotta Livia, Messana Tullio, Boni Antonella, Russo Angelo, Bilo Leonilda, Tonziello Rosa, Coppola Antonietta, Filla Alessandro, Mecarelli Oriano, Casalone Rosario, Pisani Francesco, Falsaperla Raffaele, Marino Silvia, Parisi Pasquale, Ferretti Alessandro, Elia Maurizio, Luchetti Anna, Milani Donatella, Vanadia Francesca, Silvestri Laura, Rebessi Erika, Parente Eliana, Vatti Giampaolo, Mancardi Maria Margherita, Nobili Lino, Capra Valeria, Salpietro Vincenzo, Striano Pasquale, Zara Federi |
Functional Polymorphisms in the p53 Pathway Genes on the Genetic Susceptibility to Zika Virus Teratogenesis. Frontiers in cellular and infection microbiology 2021 11 641413. Gomes Julia A, Sgarioni Eduarda, Vieira Igor A, Fraga Lucas R, Ashton-Prolla Patrícia, Terças-Tretell Ana Cláudia P, da Silva Juliana H, Ribeiro Bethânia F R, Galera Marcial F, de Oliveira Thalita M, Carvalho de Andrade Maria Denise F, Carvalho Isabella F, Schuler-Faccini Lavínia, Vianna Fernanda S |
[Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 1 38 (1): 71-73. Duan Fuhua, Kong Xiangdo |
Lack of association of TP73 with amyotrophic lateral sclerosis in a large cohort of cases. Neurobiology of aging 2022 5 115 109-111. Dilliott Allison A, Rouleau Guy A, Farhan Sali M |
Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation. Pediatric neurology 2023 10 149 137-140. Liliana Igreja, Catarina Menezes, Pedro S Pinto, João Parente Freixo, Rui Chor |
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. Journal of human genetics 2024 8 . Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, Toshihiro Nomura, Yohane Miyata, Mitsuko Nakashima, Hirotomo Sait |
Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly. Neurology. Genetics 2024 7 10 (4): e200172. Rawan Alsafh, Amal Alhashem, Aly Elsyed, Zafer Yüksel, Kalthoum Graiess-Tlili, Khalid Hundallah, Farah Thabet, Brahim Tabar |
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