Human Genome Epidemiology Literature Finder
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Association analyses between the variants of SNAP25, SV2C and ST3GAL2 and the efficacy of botulinum toxin A in the treatment of the primary Meige syndrome. Heliyon 2024 4 10 (8): e28543. Wen-Qi Wu, Kai Li, Lu-Lu Chu, Ting-Ting Shen, Yang Li, Ying-Ying Xu, Qi-Lin Zhang, Chun-Feng Liu, Jing Liu, Xu-Ping Zhou, Wei-Feng L |
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants. Frontiers in endocrinology 2024 4 15 1343977. Jianmei Zhang, Suhong Yang, Yan Zhang, Fei Liu, Lili Hao, Lianshu H |
Optical coherence tomography assessment of disease activity in cryopyrin-associated periodic syndrome. European journal of neurology 2024 4 e16301. E Mulazzani, L Böhm, T Christmann, M Krumbholz, T Kümpfel, J Hav |
The causal associations of circulating lipids with Barrett's Esophagus and Esophageal Cancer: a bi-directional, two sample mendelian randomization analysis. Human genomics 2024 4 18 (1): 37. Baofeng Li, Meng Li, Xiao Qi, Ti Tong, Guangxin Zha |
The spectrum of growth hormone excess in Carney complex and genotype-phenotype correlations. The Journal of clinical endocrinology and metabolism 2024 4 . Christina Tatsi, Georgia Pitsava, Fabio R Faucz, Meg Keil, Constantine A Stratak |
The causal relationship between genetically predicted blood metabolites and idiopathic pulmonary fibrosis: A bidirectional two-sample Mendelian randomization study. PloS one 2024 4 19 (4): e0300423. Tingyu Pan, Le Bai, Dongwei Zhu, Yun Wei, Qi Zhao, Fanchao Feng, Zhichao Wang, Yong Xu, Xianmei Zh |
Clinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients. Indian journal of pediatrics 2024 4 . Reetika Malik Yadav, Sneha Sawant Desai, Maya Gupta, Aparna Dalvi, Umair Ahmad Bargir, Neha Jodhawat, Priyanka Setia, Shweta Shinde, Ankita Parab, Ashita Gada, Prasad Taur, Mukesh Desai, Manisha Madkaik |
Authors' Reply to Letter to the Editor Regarding the Article "Genetic Association of Circulating Adipokines with Risk of Idiopathic Pulmonary Fibrosis: a Two-Sample Mendelian Randomization Study". Lung 2024 4 . Dong Huang, Zongan Lia |
[Not Available]. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 4 . Maurice Pasternak, Saira S Mirza, Nicholas Luciw, Henri J M M Mutsaerts, Jan Petr, David Thomas, David Cash, Martina Bocchetta, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ekaterina Rogaeva, Lucy L Russell, Arabella Bouzigues, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Robert Laforce, Pietro Tiraboschi, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Chris Butler, Alex Gerhard, Raquel Sanchez-Valle, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Johannes Levin, Markus Otto, Isabel Santana, Antonio P Strafella, Bradley J MacIntosh, Jonathan D Rohrer, Mario Masellis, |
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Circulation. Genomic and precision medicine 2024 4 e003978. Serwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner, Jessica Bos, Suzanne I M Alsters, Marieke J H Baars, Annette F Baas, Özlem Baysal, Saskia N van der Crabben, Eelco Dulfer, Noor A A Giesbertz, Apollonia T J M Helderman-van den Enden, Yvonne Hilhorst-Hofstee, Marlies J E Kempers, Fenne L Komdeur, Bart Loeys, Daniëlle Majoor-Krakauer, Charlotte W Ockeloen, Eline Overwater, Peter J van Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T Brüggenwirth, Ingrid M B H van de Laar, Arjan C Houweli |
A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants. Clinical laboratory 2024 4 70 (4): . Jin Ju Kim, Dong Ja Kim, Eon Jeong Nam, Kyung Eun Song, Ji Yeon Ham, Yu Kyung Kim, Nan Young L |
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia. Alzheimer's & dementia (Amsterdam, Netherlands) 2024 4 16 (2): e12571. Kiran Samra, Georgia Peakman, Amy M MacDougall, Arabella Bouzigues, Caroline V Greaves, Rhian S Convery, John C van Swieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Lucy L Russell, |
Genetic variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African population. Annals of human genetics 2024 4 . Imane El Alami, Wafa Khaali, Majida Jalbout, Amina Gihbid, Wided Ben Ayoub, Abdellatif Benider, Selma Mohamed Brahim, Mokhtar Hamdi Cherif, Nadia Benchakroun, Mohammed El Mzibri, El Khalil Ben Driss, Khalid Belghmi, Marilys Corbex, Meriem Khyat |
Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks. Journal of translational medicine 2024 4 22 (1): 355. Jae-Seung Yun, Sang-Hyuk Jung, Su-Nam Lee, Seung Min Jung, , Hong-Hee Won, Dokyoon Kim, Jin A Ch |
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. BMC ophthalmology 2024 4 24 (1): 167. Ahmad Daher, Malak Banjak, Jinane Noureldine, Joseph Nehme, Said El Shami |
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. Journal of medical genetics 2024 4 . Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan |
Comprehensive analysis of lung adenocarcinoma: Unveiling differential gene expression, survival-linked genes, subtype stratification, and immune landscape implications. Environmental toxicology 2024 4 . Yong Xi, Liu Xi, Jian Tan, Chaoqun Yu, Weiyu Shen, Bentong |
Correlation of BARD1 gene polymorphisms with risk of neuroblastoma: a meta-analysis. Nucleosides, nucleotides & nucleic acids 2024 4 1-19. Shan Chen, Di Xu, Rongdong Huang, Yang Lin, Lizhi |
An Association Between GAS5 rs145204276, NEAT1 rs512715, and MEG3 rs4081134 Gene Polymorphisms and Papillary Thyroid Carcinoma. Reports of biochemistry & molecular biology 2024 4 12 (3): 487-494. Marjan Abdi Pastaki, Saeedeh Salimi, Zahra Heidari, Mohsen Sarava |
Detection of Methylene Tetrahydrofolate Reductase (MTHFR C677T) Mutation among Acute Lymphoblastic Leukemia in Sudanese Patients. Reports of biochemistry & molecular biology 2024 4 12 (3): 458-464. Waad Almuatasem Mohieldeen, Albara Ahmed, Yousif Mohammed Elmosaad, Rania Saad Suliman, Abdulaziz Alfahed, Ahmed Hjazi, Humood Al Shmrany, Nora Hakami, Mohammed Ageeli Hakami, Alhomidi Almotiri, Hisham Ali Waggiall |
Renal cell carcinoma in an adult-onset ESRD patient with nephronophthisis harboring NPHP3 deletion: A case report. Heliyon 2024 4 10 (7): e28985. Zuo-Lin Li, Feng-Mei Wang, Yi Wen, Hai-Feng Ni, Xiao-Liang Zhang, Bin Wa |
The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers. International journal of medical sciences 2024 4 21 (5): 784-794. Meng-Hua Li, I-Chieh Chen, Hui-Wen Yang, Hsin-Chien Yen, Yung-Chieh Huang, Chia-Chi Hsu, Yi-Ming Chen, Yu-Yuan |
Sex-specific impact on disease outcome and the mutational landscape in essential thrombocythemia: A retrospective cohort study. Chinese medical journal 2024 4 . Jia Chen, Huan Dong, Yang Li, Ting Sun, Rongfeng Fu, Xiaofan Liu, Feng Xue, Wei Liu, Yunfei Chen, Mankai Ju, Xinyue Dai, Ying Chi, Wentian Wang, Huiyuan Li, Renchi Yang, Lei Zha |
The ABCG8 polymorphism increases the risk of gallbladder cancer in the general population and gallstones in obese patients from Poland. European journal of clinical investigation 2024 4 e14213. Lukasz Krupa, Piotr Kalinowski, Joanna Ligocka, Marc Dauer, Krzysztof Jankowski, Jolanta Gozdowska, Beata Kruk, Piotr Milkiewicz, Krzysztof Zieniewicz, Marek Krawczyk, Susanne N Weber, Frank Lammert, Marcin Krawcz |
Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region. Brain and behavior 2024 4 14 (4): e3437. Rabeya Akter Mim, Anjana Soorajkumar, Noor Kosaji, Muhammad Mizanur Rahman, Shaoli Sarker, Noushad Karuvantevida, Tamannyat Binte Eshaque, Md Atikur Rahaman, Amirul Islam, Mohammod Shah Jahan Chowdhury, Nusrat Shams, K M Furkan Uddin, Hosneara Akter, Mohammed Udd |
Comparison of human leukocyte antigen in patients with paroxysmal nocturnal hemoglobinuria of different clone sizes. Annals of hematology 2024 4 . Zhuxin Zhang, Qinglin Hu, Chen Yang, Miao Chen, Bing H |
Single nucleotide polymorphism (SNP) chromosomal microarray as a diagnostic tool for mucinous tubular and spindle cell carcinoma: A validation study. Human pathology 2024 4 146 57-65. Kaitlyn J Nielson, Ross Rowsey, Surendra Dasari, William R Sukov, Benjamin R Kipp, Aditya Raghunathan, Rumeal D Whaley, Kingsley Ebare, Melissa L Stanton, Jordan P Reynolds, Vidit Sharma, R Houston Thompson, Stephen A Boorjian, Bradley C Leibovich, Loren Herrera Hernandez, Rafael E Jimenez, John C Cheville, Sounak Gup |
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III. CNS neuroscience & therapeutics 2024 4 30 (4): e14718. Mengnan Lu, Xueying Wang, Na Sun, Shaoping Huang, Lin Yang, Dan |
SCN5A gene variants and arrhythmic risk in Brugada Syndrome: an updated systematic review and meta-analysis. Heart rhythm 2024 4 . Ioannis Doundoulakis, Luigi Pannone, Sotirios Chiotis, Domenico Giovanni Della Rocca, Antonio Sorgente, Panagiotis Tsioufis, Alvise Del Monte, Giampaolo Vetta, Christos Piperis, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Ströker, Juan Sieira, Mark La Meir, Pedro Brugada, Dimitrios Tsiachris, Andrea Sarkozy, Gian Battista Chierchia, Carlo de Asmund |
TCF7L2 Polymorphism rs7903146 (C/T) and Gestational Diabetes Influence on Obstetric Outcome: A Romanian Case-Control Study. International journal of molecular sciences 2024 4 25 (7): . Gheorghe Cruciat, Andreea Roxana Florian, Mariam-Suzana Chaikh-Sulaiman, Adelina Staicu, Gabriela Valentina Caracostea, Lucia Maria Procopciuc, Florin Stamatian, Daniel Mures |
Prevalence of Selected Polymorphisms of Il7R, CD226, CAPSL, and CLEC16A Genes in Children and Adolescents with Autoimmune Thyroid Diseases. International journal of molecular sciences 2024 4 25 (7): . Hanna Borysewicz-Sa?czyk, Natalia Wawrusiewicz-Kurylonek, Joanna Go?cik, Beata Sawicka, Filip Bossowski, Domenico Corica, Tommaso Aversa, Ma?gorzata Wa?niewska, Artur Bossows |
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- Page last updated:Apr 22, 2024
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