Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 102 Records) |
| Query Trace: Cerebral Palsy[original query] |
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| Exploring the association of predisposing factors of Cerebral Palsy and developmental defects of enamel: a case-control study. European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry 2020 8 22 (3): 367-374. Nogueira B R, Silva A M, de Castelo Branco Araújo T, Ferreira M C, Mendes R F, Prado Júnior R |
| Maternal ?-aminolevulinic acid dehydratase 1-2 genotype enhances fetal lead exposure and increases the susceptibility to the development of cerebral palsy. Environmental science and pollution research international 2020 Jul . Abdel Hamid Omaima Ibrahim, Khayal Eman El-Sayed Hassan, Tolba Sabry Abdel Rahman, Orabi Eman Elshah |
| The Association Study of IL-23R Polymorphisms With Cerebral Palsy in Chinese Population. Frontiers in neuroscience 2020 12 14 590098. Wang Yangong, Xu Yiran, Fan Yangyi, Bi Dan, Song Juan, Xia Lei, Shang Qing, Gao Chao, Zhang Xiaoli, Zhu Dengna, Qiao Yimeng, Su Yu, Wang Xiaoyang, Zhu Changlian, Xing Qing |
| Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. NPJ genomic medicine 2021 Sep 6 (1): 74. van Eyk C L, Webber D L, Minoche A E, Pérez-Jurado L A, Corbett M A, Gardner A E, Berry J G, Harper K, MacLennan A H, Gecz |
| Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability. Neurology. Genetics 2021 8 7 (4): e602. Lewis Sara A, Bakhtiari Somayeh, Heim Jennifer, Cornejo Patricia, Liu James, Huang Aris, Musmacker Andrew, Jin Sheng Chih, Bilguvar Kaya, Padilla-Lopez Sergio R, Kruer Michael |
| Are COL4A1 and COL4A2 gene polymorphisms associated with cerebral palsy? Turkish journal of physical medicine and rehabilitation 2021 Jun 67 (2): 242-249. Güvener Orhan, Sezgin Melek, Tezol Özlem, Barlas ?brahim Ömer, Özdemir Asena Ayça, Kan?k Emine Ar |
| Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. Journal of medical genetics 2021 7 59 (8): 759-767. Yechieli Michal, Gulsuner Suleyman, Ben-Pazi Hilla, Fattal Aviva, Aran Adi, Kuzminsky Alla, Sagi Liora, Guttman Dafna, Schneebaum Sender Nira, Gross-Tsur Varda, Klopstock Tehila, Walsh Tom, Renbaum Paul, Zeligson Sharon, Shemer Meiri Lilach, Lev Dorit, Shmueli Dorit, Blumkin Luba, Lahad Amnon, King Mary-Claire, Levy Ephrat Lahad, Segel Reev |
| Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy. Neurosurgery 2021 Jun . Hale Andrew T, Akinnusotu Oluwatoyin, He Jing, Wang Janey, Hibshman Natalie, Shannon Chevis N, Naftel Robert |
| Commentary: Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy. Neurosurgery 2021 6 89 (3): E145-E146. Kumar Kevin K, Grant Gerald |
| Genetic testing in individuals with cerebral palsy. Developmental medicine and child neurology 2021 6 63 (12): 1448-1455. May Halie J, Fasheun Jennifer A, Bain Jennifer M, Baugh Evan H, Bier Louise E, Revah-Politi Anya, , Roye David P, Goldstein David B, Carmel Jason |
| A novel PTRH2 missense mutation causing IMNEPD: a case report. Human genome variation 2021 6 8 (1): 23. Khamirani Hossein Jafari, Zoghi Sina, Dianatpour Mehdi, Jankhah Aria, Tabei Seyed Sajjad, Mohammadi Sanaz, Dastgheib Seyed Alire |
| Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy. JAMA 2021 02 325 (5): 467-475. Moreno-De-Luca Andrés, Millan Francisca, Pesacreta Denis R, Elloumi Houda Z, Oetjens Matthew T, Teigen Claire, Wain Karen E, Scuffins Julie, Myers Scott M, Torene Rebecca I, Gainullin Vladimir G, Arvai Kevin, Kirchner H Lester, Ledbetter David H, Retterer Kyle, Martin Christa |
| Association of ApoE Genotypes and Recovery From Intracerebral Hemorrhage in Very Low Birth Weight Infants. Stroke 2021 Oct STROKEAHA120033432. Humberg Alexander, Dzietko Mark, Schulz Sören, Felderhoff-Müser Ursula, Hüning Britta, Stein Anja, Fortmann Mats I, Marissen Janina, Rausch Tanja K, Herting Egbert, Härtel Christoph, Göpel Wolfgang, |
| HIF1A polymorphisms do not modify the risk of epilepsy nor cerebral palsy after neonatal hypoxic-ischemic encephalopathy. Brain research 2021 Jan 147281. Kukec Eva, Gori?ar Katja, Dolžan Vita, Rener-Primec Zvon |
| Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2022 9 24 (11): 2351-2366. Kayumi Sayaka, Pérez-Jurado Luis A, Palomares María, Rangu Sneha, Sheppard Sarah E, Chung Wendy K, Kruer Michael C, Kharbanda Mira, Amor David J, McGillivray George, Cohen Julie S, García-Miñaúr Sixto, van Eyk Clare L, Harper Kelly, Jolly Lachlan A, Webber Dani L, Barnett Christopher P, Santos-Simarro Fernando, Pacio-Míguez Marta, Pozo Angela Del, Bakhtiari Somayeh, Deardorff Matthew, Dubbs Holly A, Izumi Kosuke, Grand Katheryn, Gray Christopher, Mark Paul R, Bhoj Elizabeth J, Li Dong, Ortiz-Gonzalez Xilma R, Keena Beth, Zackai Elaine H, Goldberg Ethan M, Perez de Nanclares Guiomar, Pereda Arrate, Llano-Rivas Isabel, Arroyo Ignacio, Fernández-Cuesta María Ángeles, Thauvin-Robinet Christel, Faivre Laurence, Garde Aurore, Mazel Benoit, Bruel Ange-Line, Tress Michael L, Brilstra Eva, Fine Amena Smith, Crompton Kylie E, Stegmann Alexander P A, Sinnema Margje, Stevens Servi C J, Nicolai Joost, Lesca Gaetan, Lion-François Laurence, Haye Damien, Chatron Nicolas, Piton Amelie, Nizon Mathilde, Cogne Benjamin, Srivastava Siddharth, Bassetti Jennifer, Muss Candace, Gripp Karen W, Procopio Rebecca A, Millan Francisca, Morrow Michelle M, Assaf Melissa, Moreno-De-Luca Andres, Joss Shelagh, Hamilton Mark J, Bertoli Marta, Foulds Nicola, McKee Shane, MacLennan Alastair H, Gecz Jozef, Corbett Mark |
| Assessment of the relationship between Val66Met BDNF polymorphism and the effectiveness of gait rehabilitation in children and adolescents with cerebral palsy. Acta neurobiologiae experimentalis 2022 4 82 (1): 1-11. Bagrowski Bartosz, Czapracka Marta, Kra?ny Joanna, Prendecki Micha?, Dorszewska Jolanta, Jó?wiak Mar |
| Val66Met Polymorphism Is Associated with Altered Motor-Related Oscillatory Activity in Youth with Cerebral Palsy. Brain sciences 2022 4 12 (4): . Trevarrow Michael P, Bergwell Hannah, Sanmann Jennifer, Wilson Tony W, Kurz Max |
| Association of Nogo-A gene polymorphisms with cerebral palsy in Southern China: a case-control study. Developmental neuroscience 2022 11 . Wang Yuxin, He Lu, Huang Jingyu, Li Jinling, Liu Liru, Xu Yunxian, Peng Tingting, Yang Xubo, Zhao Yiting, Fu Chaoqiong, Huang Shiya, Tang Hongmei, Xu Kaish |
| An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population. BMC medical genomics 2022 Oct 15 (1): 208. Qiao Yimeng, Wang Yangong, Xu Yiran, Zhang Jin, Su Yu, Cheng Ye, Bi Dan, Song Juan, Xia Lei, Li Ming, Zhang Xiaoli, Zhu Dengna, Wang Ting, Ding Jian, Wang Xiaoyang, Zhu Changlian, Xing Qing |
| Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Annals of clinical and translational neurology 2022 1 9 (2): 193-205. Chopra Maya, Gable Dustin L, Love-Nichols Jamie, Tsao Alexa, Rockowitz Shira, Sliz Piotr, Barkoudah Elizabeth, Bastianelli Lucia, Coulter David, Davidson Emily, DeGusmao Claudio, Fogelman David, Huth Kathleen, Marshall Paige, Nimec Donna, Sanders Jessica Solomon, Shore Benjamin J, Snyder Brian, Stone Scellig S D, Ubeda Ana, Watkins Colyn, Berde Charles, Bolton Jeffrey, Brownstein Catherine, Costigan Michael, Ebrahimi-Fakhari Darius, Lai Abbe, O'Donnell-Luria Anne, Paciorkowski Alex R, Pinto Anna, Pugh John, Rodan Lance, Roe Eugene, Swanson Lindsay, Zhang Bo, Kruer Michael C, Sahin Mustafa, Poduri Annapurna, Srivastava Siddhar |
| De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy. Cold Spring Harbor molecular case studies 2023 9 . Jagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael Gargano, Anxhela Gjyshi Gustafson, Ellen M Raney, Mallory Shingle, Jon R Davids, Peter N Robins |
| Genetic Predisposition to Adverse Neurodevelopmental Outcome of Extremely Low Birth Weight Infants. American journal of perinatology 2023 9 . Michael W Varner, Elizabeth A Thom, C Michael Cotten, Susan R Hintz, Grier P Page, Dwight J Rouse, Brian M Mercer, Maged M Costantine, Yoram Sorokin, John M Thorp, Susan M Ramin, Marshall W Carpenter, Mary J O'Sullivan, Alan M Peaceman, George R Saade, Donald J Dudley, Steve N Caritis, |
| Early neurodevelopmental outcomes of extreme preterm infants exposed to paracetamol: a retrospective cohort study. Pediatric research 2023 5 1-6. Bella Zhong, Kenneth Tan, Abdul Razak, Vathana Sackett, Catherine Machipisa, Lindsay Zhou, Samira Samiee-Zafarghandy, Arvind Sehgal, Rod W Hunt, Pramod Pharande, Atul Malhot |
| Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders. Parkinsonism & related disorders 2023 3 105352. Pavelekova P, Necpal J, Jech R, Havrankova P, Svantnerova J, Jurkova V, Gdovinova Z, Lackova A, Han V, Winkelmann J, Zech M, Skorvanek |
| Effect of midazolam in autism spectrum disorder: A retrospective observational analysis. Acta anaesthesiologica Scandinavica 2023 2 . Hanamoto Hiroshi, Hirose Yohsuke, Toyama Midori, Yokoe Chizuko, Oyamaguchi Aiko, Niwa Hitos |
| Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy. Nature medicine 2024 5 . Yangong Wang, Yiran Xu, Chongchen Zhou, Ye Cheng, Niu Qiao, Qing Shang, Lei Xia, Juan Song, Chao Gao, Yimeng Qiao, Xiaoli Zhang, Ming Li, Caiyun Ma, Yangyi Fan, Xirui Peng, Silin Wu, Nan Lv, Bingbing Li, Yanyan Sun, Bohao Zhang, Tongchuan Li, Hongwei Li, Jin Zhang, Yu Su, Qiaoli Li, Junying Yuan, Lei Liu, Andres Moreno-De-Luca, Alastair H MacLennan, Jozef Gecz, Dengna Zhu, Xiaoyang Wang, Changlian Zhu, Qinghe Xi |
| 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 |
| Associations between maternal gestational diabetes mellitus and offspring cerebral palsy: a two-sample Mendelian randomization study. Translational pediatrics 2024 12 13 (11): 1923-1932. Honghao Peng, Yun Shu, Siyu Lu, Qiongli Fan, Yuping Zhang, Li Ming, Zhifeng |
| High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification. Clinical nutrition ESPEN 2024 11 65 126-133. Srilatha Kadali, Ananthaneni Radhika, Yadam Reddy Kanaka Durga Devi, Jagadeesh Babu Sreemanthula, Gopi Palakonda, Tajamul Hussain, Shaik Mohammad Naush |
| Genetic variants in the HLA region contribute to the risk of cerebral palsy. Biochimica et biophysica acta. Molecular basis of disease 2024 1 1870 (3): 167008. Ye Cheng, Yiran Xu, Hongwei Li, Yimeng Qiao, Yangong Wang, Yu Su, Jin Zhang, Xiaoyang Wang, Lili Song, Jian Ding, Dan Wang, Changlian Zhu, Qinghe Xi |
- Page last reviewed:Feb 1, 2024
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