Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 303 Records) |
Query Trace: Rare diseases[original query] |
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Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors. Orphanet journal of rare diseases 2023 9 18 (1): 270. Yuki Sasaki, Kosuke Ishikawa, Kanako C Hatanaka, Yumiko Oyamada, Yusuke Sakuhara, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Tomohiro Onodera, Takahiro Miura, Taku Maeda, Emi Funayama, Yutaka Hatanaka, Yuhei Yamamoto, Satoru Sasa |
PIK3CA mutations in cutaneous squamous cell carcinoma. Intractable & rare diseases research 2023 9 12 (3): 206-207. Yudo Kusaba, Ikko Kajihara, Ryoko Sakamoto, Saki Maeda-Otsuka, Saori Yamada-Kanazawa, Soichiro Sawamura, Katsunari Makino, Jun Aoi, Shinichi Masuguchi, Satoshi Fukushi |
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients. Orphanet journal of rare diseases 2023 9 18 (1): 295. Peikai Chen, Yapeng Zhou, Zhijia Tan, Yunzhi Lin, Daniel Li-Liang Lin, Jingwei Wu, Zeluan Li, Hiu Tung Shek, Jianbin Wu, Yong Hu, Feng Zhu, Danny Chan, Kenneth Man-Chee Cheung, Michael Kai-Tsun |
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients. Orphanet journal of rare diseases 2023 9 18 (1): 284. Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-En Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wa |
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data. Orphanet journal of rare diseases 2023 9 18 (1): 263. Federica Pondrelli, Raffaella Minardi, Lorenzo Muccioli, Corrado Zenesini, Luca Vignatelli, Laura Licchetta, Barbara Mostacci, Paolo Tinuper, Craig W Vander Kooi, Matthew S Gentry, Francesca Bisul |
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations. Orphanet journal of rare diseases 2023 9 18 (1): 261. Bin Zhang, Rui He, Zigang Xu, Yujuan Sun, Li Wei, Li Li, Yuanxiang Liu, Wu Guo, Li Song, Huijun Wang, Zhimiao Lin, Lin |
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca. Orphanet journal of rare diseases 2023 8 18 (1): 255. E Cisneros-Barroso, F Gorram, M A Ribot-Sansó, F Alarcon, G Nuel, J González-Moreno, A Rodríguez, J Hernandez-Rodriguez, E Amengual-Cladera, I Martínez-López, T Ripoll-Vera, I Losada-López, D Heine-Suñer, V Plante-Bordeneu |
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet journal of rare diseases 2023 7 18 (1): 177. Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavaso |
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease. iScience 2023 7 26 (7): 107171. Hassan Saei, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorv |
Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet journal of rare diseases 2023 7 18 (1): 190. Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavaso |
Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients. Orphanet journal of rare diseases 2023 7 18 (1): 186. Yan Lok Tiffany Lam, Bun Sheng, Hoi Ming Kwok, Ellen Lok Man Yu, Ka Fai Johnny |
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center. Frontiers in genetics 2023 12 14 1242277. Victor Morel, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Karine Nguyen, Emmanuelle Salort-Campana, Martin Krahn, Brigitte Chabrol, Svetlana Gorokho |
Reclassifying variations of unknown significance in diseases affecting Saudi Arabia's population reveal new associations. Frontiers in genetics 2023 11 14 1250317. Mariam M Al Eissa, Raniah S Alotibi, Bader Alhaddad, Taghrid Aloraini, Manar S Samman, Abdulrahman AlAsiri, Mohamed Abouelhoda, Amerh S AlQahta |
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. Orphanet journal of rare diseases 2023 11 18 (1): 356. Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-Ze Zheng, Liang-Liang Qiu, Zhi-Xian Ye, Hai-Zhu Chen, Min-Ting Lin, Ning Wang, Zhi-Qiang Wa |
[Clinical utility of Genome Boards for patients with complex genetic diseases]. Revue medicale suisse 2023 11 19 (848): 2073-2079. Eva B Hammar, Marc Abramowi |
Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis. Orphanet journal of rare diseases 2024 7 19 (1): 248. Jinfu Zhou, Guilin Li, Yinglin Zeng, Xiaolong Qiu, Peiran Zhao, Ting Huang, Xi Wang, Jinying Luo, Na Lin, Liangpu |
Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia. PloS one 2024 7 19 (7): e0307454. Osama Y Muthaffar, Noura W Alazhary, Anas S Alyazidi, Mohammed A Alsubaie, Sarah Y Bahowarth, Nour B Odeh, Ahmed K Bama |
Aberrant N-glycosylation is a therapeutic target in carriers of a common and highly pleiotropic mutation in the manganese transporter ZIP8. bioRxiv : the preprint server for biology 2024 7 . Vartika Tomar, John Kang, Ruxian Lin, Steven R Brant, Mark Lazarev, Caitlin Tressler, Kristine Glunde, Natasha Zachara, Joanna Mel |
Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy. International journal of molecular sciences 2024 7 25 (13): . Claudia Saraceno, Lorenzo Pagano, Valentina Laganà, Andrea Geviti, Silvia Bagnoli, Assunta Ingannato, Salvatore Mazzeo, Antonio Longobardi, Silvia Fostinelli, Sonia Bellini, Alberto Montesanto, Giuliano Binetti, Raffaele Maletta, Benedetta Nacmias, Roberta Ghido |
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies. Orphanet journal of rare diseases 2024 6 19 (1): 224. Ke Zhang, Langyi Qin, Fei Xu, Longying Ye, Mengzhen Wen, Jingye Pan, Lihong Yang, Mingshan Wang, Haixiao X |
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. Orphanet journal of rare diseases 2024 6 19 (1): 238. Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Ch |
A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort. Turkish journal of medical sciences 2024 5 54 (1): 86-98. ?zem Olcay ?ahin, Emine Karata?, Mikail Demir, Bü?ra Tan, Hüseyin Per, Yusuf Özkul, Munis Dünd |
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases. Orphanet journal of rare diseases 2024 5 19 (1): 216. Matheus V M B Wilke, Eric W Klee, Radhika Dhamija, Fernando C Fervenza, Brittany Thomas, Nelson Leung, Marie C Hogan, Megan M Hager, Kayla J Kolbert, Jennifer L Kemppainen, Elle C Loftus, Katie M Leitzen, Carolyn R Vitek, Tammy McAllister, Konstantinos N Lazaridis, Filippo Pinto E Vai |
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients. Orphanet journal of rare diseases 2024 4 19 (1): 149. Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-En Yao, Tingting Yu, Guoying Chang, Xiumin Wa |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients. Orphanet journal of rare diseases 2024 4 19 (1): 160. Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren, Xiangdong Ko |
FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data. Journal of rare diseases (Berlin, Germany) 2024 1 3 (1): 2. Caryn J Lobel, Dawn A Laney, Jingjing Yang, David Jacob, Amy Rickheim, Carol Z Ogg, Diana Clynes, Jessica Dron |
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis. Orphanet journal of rare diseases 2024 1 19 (1): 1. Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yuming |
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. medRxiv : the preprint server for health sciences 2024 1 . Craig Smail, Bing Ge, Marissa R Keever-Keigher, Carl Schwendinger-Schreck, Warren Cheung, Jeffrey J Johnston, Cassandra Barrett, , Keith Feldman, Ana S A Cohen, Emily G Farrow, Isabelle Thiffault, Elin Grundberg, Tomi Pastin |
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet journal of rare diseases 2024 1 19 (1): 15. Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W Taylor, Krutik Patel, Mahmoud R Fassad, Jana Vandrovcova, , Ronald J A Wanders, Francois H van der Westhuiz |
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