Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 286 Records) |
| Query Trace: Rare diseases[original query] |
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| Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. Orphanet journal of rare diseases 2022 12 17 (1): 434. Fernández-Eulate Gorka, Martin Gilles C, Dureau Pascal, Speeg-Spatz Claude, Brassier Anais, Gillard Perrine, Bremond-Gignac Dominique, Thouvenin Dominique, Pagan Cecile, Lamari Foudil, Nadjar Ya |
| Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders. Orphanet journal of rare diseases 2022 12 17 (1): 431. Jia Hongyan, Ma Qian, Liang Yi, Wang Dan, Chang Qinglin, Zhao Bo, Zhang Zongrui, Liang Jing, Song Jing, Wang Yidi, Zhang Ranran, Tu Zhanhan, Jiao Yongho |
| 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 |
| 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 |
| 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 |
| Polygenic Risk Score in African populations: progress and challenges. F1000Research 2023 6 11 175. Yagoub Adam, Suraju Sadeeq, Judit Kumuthini, Olabode Ajayi, Gordon Wells, Rotimi Solomon, Olubanke Ogunlana, Emmanuel Adetiba, Emeka Iweala, Benedikt Brors, Ezekiel Adebi |
| Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms. Orphanet journal of rare diseases 2023 6 18 (1): 137. Dongjia Chen, Yan Xu, Yu Fu, Yali Wang, Yuliang Liu, Chenhui Ding, Bing Cai, Jiafu Pan, Jing Wang, Rong Li, Jing Guo, Han Zhang, Yanhong Zeng, Xiaoting Shen, Canquan Zh |
| Post-prandial analysis of fluctuations in the platelet count and platelet function in patients with the familial chylomicronemia syndrome. Orphanet journal of rare diseases 2023 6 18 (1): 167. Miriam Larouche, Diane Brisson, Marie-Claude Morissette, Daniel Gaud |
| Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. Journal of medical genetics 2023 6 . Brais Bea-Mascato, Diana Valver |
| Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. Orphanet journal of rare diseases 2023 6 18 (1): 149. Elise Brimble, Kathryn G Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R Z Ruzhnikov, Xilma R Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, |
| Visual Acuity in Aniridia and WAGR Syndrome. Clinical ophthalmology (Auckland, N.Z.) 2023 5 17 1255-1261. Michael A Krause, Kelly L Trout, James D Lauderdale, Peter A Netla |
| Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing. Orphanet journal of rare diseases 2023 5 18 (1): 128. Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu |
| The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
| Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome. Orphanet journal of rare diseases 2023 5 18 (1): 115. Yue Wang, Mengru Cai, Xianliang Jiang, Guangyu Lv, Daiju Hu, Guofeng Zhang, Jinli Liu, Wei Wei, Jun Xiao, Bing Shen, Jay H Ryu, Xiaowen |
| The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis. Orphanet journal of rare diseases 2023 3 18 (1): 64. Kubiliute Aleksandra, Gedvilaite Greta, Vilkeviciute Alvita, Kriauciuniene Loresa, Bruzaite Akvile, Zaliuniene Dalia, Liutkeviciene Ra |
| Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 2023 3 29 (3): 679-688. Greene Daniel, , Pirri Daniela, Frudd Karen, Sackey Ege, Al-Owain Mohammed, Giese Arnaud P J, Ramzan Khushnooda, Riaz Sehar, Yamanaka Itaru, Boeckx Nele, Thys Chantal, Gelb Bruce D, Brennan Paul, Hartill Verity, Harvengt Julie, Kosho Tomoki, Mansour Sahar, Masuno Mitsuo, Ohata Takako, Stewart Helen, Taibah Khalid, Turner Claire L S, Imtiaz Faiqa, Riazuddin Saima, Morisaki Takayuki, Ostergaard Pia, Loeys Bart L, Morisaki Hiroko, Ahmed Zubair M, Birdsey Graeme M, Freson Kathleen, Mumford Andrew, Turro Erne |
| Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. Orphanet journal of rare diseases 2023 3 18 (1): 52. Ibrahim Doaa M A, Ali Ola S M, Nasr Hala, Fateen Ekram, AbdelAleem Ali |
| Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain communications 2023 3 5 (2): fcad037. Themistocleous Andreas C, Baskozos Georgios, Blesneac Iulia, Comini Maddalena, Megy Karyn, Chong Sam, Deevi Sri V V, Ginsberg Lionel, Gosal David, Hadden Robert D M, Horvath Rita, Mahdi-Rogers Mohamed, Manzur Adnan, Mapeta Rutendo, Marshall Andrew, Matthews Emma, McCarthy Mark I, Reilly Mary M, Renton Tara, Rice Andrew S C, Vale Tom A, van Zuydam Natalie, Walker Suellen M, Woods Christopher Geoffrey, Bennett David L |
| 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 |
| The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia. Orphanet journal of rare diseases 2023 1 18 (1): 2. Fan Shanghua, Zhao Ting, Sun L |
| Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis. Orphanet journal of rare diseases 2023 1 18 (1): 13. Pramparo Tiziano, Steiner Robert D, Rodems Steve, Jenkinson Cel |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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