Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 61 Records) |
Query Trace: Hydrocephalus[original query] |
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Patterns of brain metastasis in anaplastic lymphoma kinase - rearranged and epidermal growth factor receptor-mutated lung cancer patients in magnetic resonance imaging. South Asian journal of cancer 0 8 (3): 189-190. Batra Ullas, Mahawar Vivek, Jajodia Ankush, Razdan Avinash, Mahanthi Himanshu, Babu Koyyala Venkata Prade |
Predicting Development of Alzheimer's Disease in Patients with Shunted Idiopathic Normal Pressure Hydrocephalus. Journal of Alzheimer's disease : JAD 2019 9 71 (4): 1233-1243. Luikku Antti J, Hall Anette, Nerg Ossi, Koivisto Anne M, Hiltunen Mikko, Helisalmi Seppo, Herukka Sanna-Kaisa, Junkkari Antti, Sutela Anna, Kojoukhova Maria, Korhonen Ville, Mattila Jussi, Lötjönen Jyrki, Rummukainen Jaana, Alafuzoff Irina, Jääskeläinen Juha E, Remes Anne M, Solomon Alina, Kivipelto Miia, Soininen Hilkka, Rauramaa Tuomas, Leinonen Vil |
Factors Associated With Ventriculoperitoneal Shunt Placement in Patients With Cryptococcal Meningitis. Open forum infectious diseases 2019 6 6 (6): ofz241. Baddley John W, Thompson George R, Riley Kristen O, Moore Mary K, Moser Stephen A, Pappas Peter |
Clinical presentations, Laboratory analysis and Linear Growth in 50 Neonates and Young Infants with Acute Meningitis: One Year Experience of a Single Center in Qatar. Mediterranean journal of hematology and infectious diseases 2019 6 11 (1): e2019028. Abdelmaguid Nadra, Seleem Wail Said, Soliman Ashraf T, Mohamed Rabie S, Elgharbawy Fawzia M, Yassin Haytham, De Sanctis Vincen |
Comparative Analysis of Subventricular Zone Glioblastoma Contact and Ventricular Entry During Resection in Predicting Dissemination, Hydrocephalus, and Survival. Neurosurgery 2019 5 85 (5): E924-E932. Mistry Akshitkumar M, Kelly Patrick D, Gallant Jean-Nicolas, Mummareddy Nishit, Mobley Bret C, Thompson Reid C, Chambless Lola |
Prevalence of C9ORF72 Expansion in a Large Series of Patients with Idiopathic Normal-Pressure Hydrocephalus. Dementia and geriatric cognitive disorders 2019 Mar 47 (1-2): 91-103. Korhonen Ville E, Remes Anne M, Helisalmi Seppo, Rauramaa Tuomas, Sutela Anna, Vanninen Ritva, Suhonen Noora-Maria, Haapasalo Annakaisa, Hiltunen Mikko, Jääskeläinen Juha E, Soininen Hilkka, Koivisto Anne M, Leinonen Vil |
Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency. Molecular genetics and metabolism reports 2020 9 25 100644. Aljassim Nada, Alfadhel Majid, Nashabat Marwan, Eyaid Wa |
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases. Orphanet journal of rare diseases 2020 Aug 15 (1): 200. He Ruxuan, Mo Ruo, Shen Ming, Kang Lulu, Song Jinqing, Liu Yi, Chen Zhehui, Zhang Hongwu, Yao Hongxin, Liu Yupeng, Zhang Yao, Dong Hui, Jin Ying, Li Mengqiu, Qin Jiong, Zheng Hong, Chen Yongxing, Li Dongxiao, Wei Haiyan, Li Xiyuan, Zhang Huifeng, Huang Min, Zhang Chunyan, Jiang Yuwu, Liang Desheng, Tian Yaping, Yang Yanli |
Toscana virus associated with Guillain-Barré syndrome: a case-control study. Acta neurologica Belgica 2020 1 121 (3): 661-668. Okar Serhat Vahip, Bekircan-Kurt Can Ebru, Hac?o?lu Sabri, Erdem-Özdamar Sevim, Özkul Aykut, Ergünay Kor |
A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population. Journal of Alzheimer's disease : JAD 2021 Aug . Rostalski Hannah, Korhonen Ville, Kuulasmaa Teemu, Solje Eino, Krüger Johanna, Gen Finn, Kaivola Karri, Eide Per Kristian, Lambert Jean-Charles, Julkunen Valtteri, Tienari Pentti J, Remes Anne M, Leinonen Ville, Hiltunen Mikko, Haapasalo Annakai |
Tumor DNA Mutations From Intraparenchymal Brain Metastases Are Detectable in CSF. JCO precision oncology 2021 7 5 . Cheok Stephanie Kim, Narayan Azeet, Arnal-Estape Anna, Gettinger Scott, Goldberg Sarah B, Kluger Harriet M, Nguyen Don, Patel Abhijit, Chiang Veroni |
Prognostic Analysis and Risk Factors Associated with Fetal Ventriculomegaly. Pediatric neurosurgery 2021 Jun 1-9. Li Qi-Ming, Liao Hong-Zhan, Wang Wen-Bo, Zeng Shi-Yi, Qiu Xian-Sheng, Ke Shuai, Xiao Jing, Li Qing-Hua, Xia Xue-Wei, Li Yo |
Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort. World journal of pediatrics : WJP 2021 Apr . Mei Hong-Fang, Dong Xin-Ran, Chen Hui-Yao, Lu Yu-Lan, Wu Bing-Bing, Wang Hui-Jun, Cheng Guo-Qiang, Wang Lai-Shuan, Cao Yun, Yang Lin, Zhou Wen-H |
Time Trends of Cerebrospinal Fluid Biomarkers of Neurodegeneration in Idiopathic Normal Pressure Hydrocephalus. Journal of Alzheimer's disease : JAD 2021 3 80 (4): 1629-1642. Lukkarinen Heikki, Tesseur Ina, Pemberton Darrel, Van Der Ark Peter, Timmers Maarten, Slemmon Randy, Janssens Luc, Streffer Johannes, Van Nueten Luc, Bottelbergs Astrid, Rauramaa Tuomas, Koivisto Anne M, Herukka Sanna-Kaisa, Korhonen Ville E, Junkkari Antti, Hiltunen Mikko, Engelborghs Sebastiaan, Blennow Kaj, Zetterberg Henrik, Kolb Hartmuth C, Leinonen Vil |
iNPH-the mystery resolving. EMBO molecular medicine 2021 2 13 (3): e13720. Leinonen Ville, Kuulasmaa Teemu, Hiltunen Mik |
Correlations between sleep disturbance and brain structures associated with neurodegeneration in the National Alzheimer's Coordinating Center Uniform Data Set. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2022 8 106 204-212. Burke Shanna, Grudzien Adrienne, Li Tan, Abril Marlou, Spadola Christine, Barnes Christopher, Hanson Kevin, Grandner Michael, DeKosky Stev |
Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. The journal of obstetrics and gynaecology research 2022 7 48 (10): 2624-2629. Li Meng, Fu Huayu, Li Jiao, Meng Dahua, Zhang Qiang, Fei Dongm |
An Integrated Analysis of Clinical, Genomic, and Imaging Features Reveals Predictors of Neurocognitive Outcomes in a Longitudinal Cohort of Pediatric Cancer Survivors, Enriched with CNS Tumors (Rad ART Pro). Frontiers in oncology 2022 12 874317. Kline Cassie, Stoller Schuyler, Byer Lennox, Samuel David, Lupo Janine M, Morrison Melanie A, Rauschecker Andreas M, Nedelec Pierre, Faig Walter, Dubal Dena B, Fullerton Heather J, Mueller Sabi |
Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype. Frontiers in pediatrics 2022 5 10 871565. Tas Berivan, Starnoni Daniele, Smajda Stanislas, Vivanti Alexandre J, Adamsbaum Catherine, Eyries Mélanie, Melki Judith, Tawk Marcel, Ozanne Augustin, Revencu Nicole, Soubrier Florent, Siala Selima, Vikkula Miikka, Deiva Kumaran, Saliou Guillau |
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort. Haematologica 2022 4 108 (1): 69-82. Altintas Burak, Giri Neelam, McReynolds Lisa J, Best Ana, Alter Blanche |
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening. Frontiers in genetics 2022 3 13 805599. Ling Shiying, Wu Shengnan, Shuai Ruixue, Yu Yue, Qiu Wenjuan, Wei Haiyan, Yang Chiju, Xu Peng, Zou Hui, Feng Jizhen, Niu Tingting, Hu Haili, Zhang Huiwen, Liang Lili, Lu Deyun, Gong Zhuwen, Zhan Xia, Ji Wenjun, Gu Xuefan, Han Lians |
Pineal anlage tumor: a case report and the literature review. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2022 12 . Ying Zesheng, Ge Ming, Yang Wei, Cai Yingjie, Zhang N |
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1086-1092. Chongfen Chen, Yaodong Zhang, Lili Ge, Lei Liu, Xiaoman Zhang, Shiyue Mei, Shuying L |
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus. Neurology. Genetics 2023 7 9 (5): e200086. Philip W Tipton, Merve Atik, Alexandra I Soto-Beasley, Gregory S Day, Sanjeet S Grewal, Kaisorn Chaichana, Olga P Fermo, Colleen T Ball, Michael G Heckman, Launia J White, Zachary S Quicksall, Joseph S Reddy, Vijay K Ramanan, Prashanthi Vemuri, Benjamin D Elder, Nilufer Ertekin-Taner, Owen Ross, Neill Graff-Radfo |
Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing. Journal of neurosurgical sciences 2023 5 . Ahmed Ammar, Dalal K Bubshait, Abdulrazaq Al Ojan, Shuroq A Alshari, Cyril Cyrus, Rawan Alanazi, Mohammed A Al Ghamdi, Brendan J Keating, Abdulrahman Al-Anazi, Noorah H Al Qahtani, Amein K Al-A |
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human genomics 2023 3 17 (1): 16. Jacquemin Valerie, Versbraegen Nassim, Duerinckx Sarah, Massart Annick, Soblet Julie, Perazzolo Camille, Deconinck Nicolas, Brischoux-Boucher Elise, De Leener Anne, Revencu Nicole, Janssens Sandra, Moorgat Stèphanie, Blaumeiser Bettina, Avela Kristiina, Touraine Renaud, Abou Jaoude Imad, Keymolen Kathelijn, Saugier-Veber Pascale, Lenaerts Tom, Abramowicz Marc, Pirson Isabel |
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement. Brain communications 2023 1 5 (1): fcad004. Munch Tina N, Hedley Paula L, Hagen Christian M, Bækvad-Hansen Marie, Geller Frank, Bybjerg-Grauholm Jonas, Nordentoft Merete, Børglum Anders D, Werge Thomas M, Melbye Mads, Hougaard David M, Larsen Lars A, Christensen Søren T, Christiansen Micha |
Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India. Journal of pediatric genetics 2023 1 12 (1): 42-47. Goyal Manisha, Gupta Ashok, Bhandari Anu, Faruq Mohamm |
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. Clinical genetics 2024 1 . Yu-Jie Chen, Wen-Jie Wang, Dong-Fang Zou, Jun-Xia Luo, Pei-Yan Jin, Liang Jin, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Yong-Jun Chen, |
Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis. Acta neuropathologica communications 2024 1 12 (1): 14. Haruhiko Takahashi, Manabu Natsumeda, Norikazu Hara, Akihide Koyama, Hiroshi Shimizu, Akinori Miyashita, Daiken Satake, Yoshihiro Mouri, Jun Tsukano, Keita Kawabe, Yoshihiro Tsukamoto, Masayasu Okada, Ryosuke Ogura, Akihiko Yuki, Hajime Umezu, Akiyoshi Kakita, Takeshi Ikeuchi, Makoto Ois |
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- Page last updated:Apr 22, 2024
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