Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 329 Records) |
| Query Trace: Rare diseases[original query] |
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| Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing. Orphanet journal of rare diseases 2024 9 19 (1): 330. Jingjing Xiang, Yang Ding, Hui Tang, Wei Zhang, Jun Mao, Quanze He, Qin Zhang, Ting Wa |
| Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea. Orphanet journal of rare diseases 2024 9 19 (1): 329. Man Jin Kim, Jee-Soo Lee, Seung Won Chae, Sung Im Cho, Jangsup Moon, Jung Min Ko, Jong-Hee Chae, Moon-Woo Seo |
| Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region. Orphanet journal of rare diseases 2024 9 19 (1): 348. Daiju Hu, Rui Wang, Jinli Liu, Xianmeng Chen, Xianliang Jiang, Jun Xiao, Jay H Ryu, Xiaowen |
| Prevalence of hearing loss in pseudohypoparathyroidism. Orphanet journal of rare diseases 2024 9 19 (1): 339. Cassandre Djian, Jugurtha Berkenou, Anya Rothenbuhler, Jérémie Botton, Agnès Linglart, Jérôme Nevo |
| Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases. Orphanet journal of rare diseases 2024 9 19 (1): 337. Yinan Wang, Nuoya Li, Songyun Zha |
| Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants. BMC medical genomics 2024 8 17 (1): 203. Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yu |
| Association and causal impact of TERT genetic variants on peripheral blood leukocyte telomere length and cerebral small vessel disease risk in a Chinese Han population: a mendelian randomization analysis. Orphanet journal of rare diseases 2024 8 19 (1): 309. Ying Song, Jialiang Xu, Wanru Geng, Long Yin, Jialu Wang, JiuHan Zh |
| The effect of years of schooling and age on CERAD-MX performance in Mexican preclinical carriers of the APP mutation: Randomized data simulation. Alzheimer's & dementia (Amsterdam, Netherlands) 2024 8 16 (3): e12631. Angélica Zuno-Reyes, Karina Pérez-Rubio, Martín Alonso Flores-González, Ricardo Jauregui Torres, Sofía Dumois-Petersen, Luis E Figuera, John M Ringman, Esmeralda Matu |
| 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 |
| Comprehensive analysis of pseudoxanthoma elasticum: epidemiological, genetic, and clinical findings from the leading Italian center. Italian journal of dermatology and venereology 2024 7 159 (4): 430-435. Alessandro Laghi, Victor D Mandel, Ilaria Zubba, Chiara Franceschini, Ilaria Demofonte, Camilla Chello, Emanuele Miraglia, Marco Ardigò, Sandra Giusti |
| Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis. Orphanet journal of rare diseases 2024 7 19 (1): 278. Chongjun Wu, Yixin Yan, Ting Xiong, Wen Jiang, Jing Xu, Yanfei Rao, Jianyun Ao, Chun Xu, Xuehong Li, Longwang Qi, Wenhong Zheng, Wenjin Li, Zhongjin Xu, Yu Yang, Zhenjiang |
| Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP). Orphanet journal of rare diseases 2024 7 19 (1): 273. Fábio Fernandes, Georgina Del Cisne Jadán Luzuriaga, Guilherme Wesley Peixoto da Fonseca, Edileide Barros Correia, Alzira Alves Siqueira Carvalho, Ariane Vieira Scarlatelli Macedo, Otavio Rizzi Coelho-Filho, Phillip Scheinberg, Murillo Oliveira Antunes, Pedro Vellosa Schwartzmann, Sandrigo Mangini, Wilson Marques, Marcus Vinicius Simõ |
| 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 |
| Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101304. Ronja Hotakainen, Timo Järvinen, Kaisa Kettunen, Anna-Kaisa Anttonen, Eveliina Jakku |
| Associations between genetic variants of Toll-interacting proteins and interstitial lung diseases: a systematic review and meta-analysis. Orphanet journal of rare diseases 2024 11 19 (1): 432. Xiaoyuan Li, Beibei Cui, Lili Jia |
| Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. Orphanet journal of rare diseases 2024 11 19 (1): 431. Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M Ennes, Marni J Falk, Amy Goldstein, Gráinne Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D S Pitceathly, Russekk Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L K Van Hove, John Vissing, Jerry Vockley, Jeffrey S Finman, Anthony Abbruscato, David A Brown, Alana Sullivan, James A Shiffer, Michelango Mancuso, |
| [From gene to cell: Functional validation of RYR1 variants]. Medecine sciences : M/S 2024 11 40 Hors série n° 1 30-33. Robin Reynaud Dulaurier, Julie Brocard, John Rendu, Nagi Debbah, Julien Fauré, Isabelle Mar |
| Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome. Orphanet journal of rare diseases 2024 11 19 (1): 424. Anastasia Ambrose, Shalini Bahl, Saloni Sharma, Dan Zhang, Clara Hung, Shailly Jain-Ghai, Alicia Chan, Saadet Mercimek-Andre |
| Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents. Orphanet journal of rare diseases 2024 11 19 (1): 426. Pimpitcha Youthong, Samart Pakakasama, Patcharee Komvilaisak, Piya Rujkijyanont, Chane Choed-Amphai, Kamon Phuakpet, Chatphatai Moonla, Chantana Polprasert, Darintr Sosothik |
| Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA. Orphanet journal of rare diseases 2024 10 19 (1): 369. Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikku |
| Sex-specific Genetic Determinants of Right Ventricular Structure and Function. American journal of respiratory and critical care medicine 2024 10 . Lars Harbaum, Jan K Hennigs, Julian Pott, Jonna Ostermann, Christoph R Sinning, Arunashis Sau, Ewa Sieliwonczyk, Fu Siong Ng, Christopher J Rhodes, Khodr Tello, Hans Klose, Stefan Gräf, Martin R Wilki |
| Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency. Orphanet journal of rare diseases 2024 10 19 (1): 397. Yanjie Xia, Feng Yu, Ying Bai, Lili Jiang, Panlai Shi, Zhengwen Jiang, Xiangdong Ko |
| Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients. Orphanet journal of rare diseases 2024 10 19 (1): 394. Li Wang, Qingdan Xu, Wentao Wang, Xinghuai Sun, Yuhong Ch |
| Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing. Scientific reports 2024 10 14 (1): 24746. Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, Shinobu Fukumura, Keitaro Yamada, Ikumi Hori, Kenji Shimizu, Sachiko Miyamoto, Kaori Yamoto, Takuya Hiraide, Kazuki Watanabe, Shintaro Aoki, Shogo Furukawa, Taiju Hayashi, Masaharu Isogai, Takuma Harasaki, Mitsuko Nakashima, Hirotomo Sait |
| Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study. Orphanet journal of rare diseases 2024 10 19 (1): 385. Tamás Fehér, Noémi Széll, István Nagy, Zoltán Maróti, Tibor Kalmár, Zoltán Sohajda, Mirella T S Barbo |
| An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration. Orphanet journal of rare diseases 2024 10 19 (1): 388. Amina Kurtovic-Kozaric, Moriel Singer-Berk, Jordan Wood, Emily Evangelista, Leena Panwala, Amanda Hope, Stefanie M Heinrich, Samantha Baxter, Mark J Ki |
| TARS2 c.470 C?>?G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy. Orphanet journal of rare diseases 2024 10 19 (1): 376. Shujie Zhang, Haisong Qin, Qingming Wang, Yingfei Wang, Yanhui Liu, Qi Yang, Jingsi Luo, Zailong Qin, Xiang Ji, Lijuan Kan, Guoxing Geng, Jing Huang, Shengkai Wei, Qiuli Chen, Yiping Shen, Haiming Yuan, Baoling L |
| Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I. Orphanet journal of rare diseases 2024 10 19 (1): 362. Yi-Chu Du, Ling-Han Ma, Quan-Fu Li, Yin Ma, Yi Dong, Zhi-Ying |
- Page last reviewed:Feb 1, 2024
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