Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 5998 Records) |
Query Trace: C Syndrome[original query] |
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Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype. Pediatric neurology 2024 4 155 51-54. Marija Babunovska, Tatjana Cepreganova Cangovska, Igor Kuzmanovski, Predrag Noveski, Dijana Plaseska-Karanfilska, Emilija Cvetkovs |
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 2024 4 47 (1): e20220335. Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwar |
Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration. Research square 2024 4 . Rowan Saloner, Adam Staffaroni, Eric Dammer, Erik C B Johnson, Emily Paolillo, Amy Wise, Hilary Heuer, Leah Forsberg, Argentina Lario Lago, Julia Webb, Jacob Vogel, Alexander Santillo, Oskar Hansson, Joel Kramer, Bruce Miller, Jingyao Li, Joseph Loureiro, Rajeev Sivasankaran, Kathleen Worringer, Nicholas Seyfried, Jennifer Yokoyama, William Seeley, Salvatore Spina, Lea Grinberg, Lawren VandeVrede, Peter Ljubenkov, Ece Bayram, Andrea Bozoki, Danielle Brushaber, Ciaran Considine, Gregory Day, Bradford Dickerson, Kimiko Domoto-Reilly, Kelley Faber, Douglas Galasko, Daniel Geschwind, Nupur Ghoshal, Neill Graff-Radford, Chadwick Hales, Lawrence Honig, Ging-Yuek Hsiung, Edward Huey, John Kornak, Walter Kremers, Maria Lapid, Suzee Lee, Irene Litvan, Corey McMillan, Mario Mendez, Toji Miyagawa, Alexander Pantelyat, Belen Pascual, Henry Paulson, Leonard Petrucelli, Peter Pressman, Eliana Ramos, Katya Rascovsky, Erik Roberson, Rodolfo Savica, Allison Snyder, A Campbell Sullivan, Carmela Tartaglia, Marijne Vandebergh, Bradley Boeve, Howie Rosen, Julio Rojas, Adam Boxer, Kaitlin Casalet |
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis. Molecular syndromology 2024 4 15 (2): 96-103. Karam Yahya Belmokhtar, Imane Cherkaoui, Saida Lhousni, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Majida Charif, Redouane Boulouiz, Meryem Ouarzane, Aziza Elouali, Ayad Ghanam, Abdeladim Babakhouya, Maria Rkain, Noufissa Benajiba, Mohammed Bellao |
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 |
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity. Blood 2024 4 . Tanja C Vallée, Jannik S Glasmacher, Hannes Buchner, Peter D Arkwright, Uta Behrends, Anastasia Bondarenko, Michael J Browning, David K Buchbinder, Alessandro Cattoni, Liudmyla Chernyshova, Peter Ciznar, Theresa Cole, Wojciech Czogala, Gregor Dueckers, John David M Edgar, Fatih Erbey, Anders Fasth, Francesca Ferrua, Renata Formankova, Eleonora Gambineri, Andrew R Gennery, Frederick D Goldman, Luis Ignacio Gonzalez-Granado, Carsten Heilmann, Tarja Heiskanen-Kosma, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E Karaca, Sara Sebnem Kilic, Christoph Klein, Sylwia Koltan, Irina Kondratenko, Isabelle Meyts, Gulnara M Nasrullayeva, Lucia Dora Notarangelo, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Siraj Ahmed Misbah, Ansgar S Schulz, Gesmar Rs Segundo, Anna Shcherbina, Mary A Slatter, Robert Sokolic, Pere Soler-Palacin, Polina Stepensky, Joris M van Montfrans, Samppa Ryhänen, Beata Wolska-Ku?nierz, John B Ziegler, Xiaodong Zhao, Alessandro Aiuti, Hans D Ochs, Michael H Albe |
Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024 4 33 (2): 50-58. Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kaw |
Human Leukocyte Antigens and Sulfamethoxazole/Cotrimoxazole-Induced Severe Cutaneous Adverse Reactions: A Systematic Review and Meta-Analysis. JAMA dermatology 2024 4 . Po-Chien Wu, Wei-Ti Chen, I-Hsin Huang, Chun-Bing Chen, Chuang-Wei Wang, Cheng-Chen Tai, Wen-Hung Chung, Ching-Chi C |
Association of PARP inhibitor treatment on the prevalence and progression of clonal hematopoiesis in patients with advanced prostate cancer. The Prostate 2024 4 . Catherine H Marshall, Lukasz P Gondek, Violet Daniels, Changxue Lu, Sergiu Pasca, Jiajun Xie, Mark C Markowski, Channing J Paller, Laura A Sena, Samuel R Denmeade, Jun Luo, Emmanuel S Antonarak |
Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome. Pediatrics international : official journal of the Japan Pediatric Society 2024 4 66 (1): e15770. Ho Quoc Chuong, Phan Thi Xinh, Duong Bich Tram, Nguyen Thi Thanh Ha, Tuan Minh Nguyen, Phan Nguyen Lien Anh, Nguyen Dinh Van, Nguyen Hoang Mai Anh, Phu Chi Dung, Huynh Nghia, Hoang Anh |
[Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 480-485. Xiaojin Luo, Hongyan Niu, Fei Zhou, Shuangwu Li, Zhenming Li, Yanyun G |
[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 450-455. Fanrong Meng, Yunfang Shi, Duan Ju, Xiuyan Wang, Haiwei Dong, Xuebing Li, Xiaozhou Li, Xuexia Zh |
[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 426-431. Bingwei Peng, Haixia Zhu, Yang Tian, Xiaojing Li, Xiuying Wang, Yuanyuan Gao, Yani Zhang, Huiling Shen, Wenxiong Ch |
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies. Epilepsy & behavior : E&B 2024 4 155 109762. Maria Luiza Benevides, Helena T de Moraes, Diana M M Granados, Luciana C Bonadia, Letícia Sauma, Maria Augusta Montenegro, Marilisa M Guerreiro, Íscia Lopes-Cendes, Ana Carolina Co |
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 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 |
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 |
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 |
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 |
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 |
Molecular Features of HHV8 Monoclonal Microlymphoma Associated with Kaposi Sarcoma and Multicentric Castleman Disease in an HIV-Negative Patient. International journal of molecular sciences 2024 4 25 (7): . Evelina Rogges, Sabrina Pelliccia, Camilla Savio, Gianluca Lopez, Irene Della Starza, Giacinto La Verde, Arianna Di Napo |
Lessons from prospective longitudinal follow-up of a French APECED cohort. The Journal of clinical endocrinology and metabolism 2024 4 . Linda Humbert, Emmanuelle Proust-Lemoine, Sylvain Dubucquoi, Elisabeth Helen Kemp, Pascale Saugier-Veber, Nicole Fabien, Isabelle Raymond-Top, Catherine Cardot-Bauters, Jean-Claude Carel, Maryse Cartigny, Olivier Chabre, Philippe Chanson, Brigitte Delemer, Christine Do Cao, Laurence Guignat, Jean Emmanuel Kahn, Veronique Kerlan, Herve Lefebvre, Agnès Linglart, Roberto Mallone, Rachel Reynaud, Boualem Sendid, Pierre-François Souchon, Philippe Touraine, Jean-Louis Wémeau, Marie-Christine Vantygh |
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 |
Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases. Acta neuropathologica communications 2024 4 12 (1): 57. Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Kazuya Motomura, Eiji Ito, Kazuhito Takeuchi, Yuichi Nagata, Satoshi Ito, Nobuhiko Mizutani, Yoshiki Shiba, Sachi Maeda, Tomohide Nishikawa, Hiroki Shimizu, Ryuta Sai |
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel. European journal of haematology 2024 4 . Lital Yeshareem, Joanne Yacobovich, Asaf Lebel, Sharon Noy-Lotan, Orly Dgany, Tanya Krasnov, Galit Berger Pinto, Nino Oniashvili, Jacques Mardoukh, Bella Bielorai, Ruth Laor, Noa Mandel-Shorer, Ayelet Ben Barak, Carina Levin, Mahdi Asleh, Hagit Miskin, Shoshana Revel-Vilk, Dror Levin, Marganit Benish, Tsila Zuckerman, Ofir Wolach, Idit Pazgal, Dafna Brik Simon, Oded Gilad, Asaf David Yanir, Tracie Alison Goldberg, Shai Izraeli, Hannah Tamary, Orna Steinberg-Shem |
Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry. Journal of movement disorders 2024 1 . Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine Gy Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R Morris, Eng-King Tan, Adeline Sl |
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics 2024 1 . Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzi |
Phenotypic spectrum of Progressive Supranuclear Palsy: Clinical study and APOE effect. Journal of movement disorders 2024 1 . Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouid |
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- Page last updated:Apr 22, 2024
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