Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 44 Records) |
Query Trace: LAMA2[original query] |
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Targeted next-generation sequencing identifies clinically relevant somatic mutations in a large cohort of inflammatory breast cancer. Breast cancer research : BCR 2018 Aug 20 (1): 88. Liang Xu, Vacher Sophie, Boulai Anais, Bernard Virginie, Baulande Sylvain, Bohec Mylene, Bièche Ivan, Lerebours Florence, Callens Céli |
Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma. Nature communications 2018 12 9 (1): 5410. Gallia Gary L, Zhang Ming, Ning Yi, Haffner Michael C, Batista Denise, Binder Zev A, Bishop Justin A, Hann Christine L, Hruban Ralph H, Ishii Masaru, Klein Alison P, Reh Douglas D, Rooper Lisa M, Salmasi Vafi, Tamargo Rafael J, Wang Qing, Williamson Tara, Zhao Tianna, Zou Ying, Meeker Alan K, Agrawal Nishant, Vogelstein Bert, Kinzler Kenneth W, Papadopoulos Nickolas, Bettegowda Chet |
Molecular profiling of hormone receptor-positive, HER2-negative breast cancers from patients treated with neoadjuvant endocrine therapy in the CARMINA 02 trial (UCBG-0609). Journal of hematology & oncology 2018 Oct 11 (1): 124. Liang Xu, Briaux Adrien, Becette Véronique, Benoist Camille, Boulai Anais, Chemlali Walid, Schnitzler Anne, Baulande Sylvain, Rivera Sofia, Mouret-Reynier Marie-Ange, Bouvet Laurence Venat, De La Motte Rouge Thibaut, Lemonnier Jérôme, Lerebours Florence, Callens Céli |
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin ?2-related muscular dystrophy. Scientific reports 2018 10 8 (1): 14989. Ge Lin, Liu Aijie, Gao Kai, Du Renqian, Ding Juan, Mao Bing, Hua Ying, Zhang Xiaoli, Tan Dandan, Yang Haipo, Fu Xiaona, Fan Yanbin, Zhang Ling, Song Shujuan, Wu Jian, Zhang Feng, Jiang Yuwu, Wu Xiru, Xiong H |
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing. Frontiers in pharmacology 2019 8 10 814. Wang Dong, Gao Min, Zhang Kaihui, Jin Ruifeng, Lv Yuqiang, Liu Yong, Ma Jian, Wan Ya, Gai Zhongtao, Liu |
Molecular characteristics of varicocele: integration of whole-exome and transcriptome sequencing. Fertility and sterility 2020 9 115 (2): 363-372. Yang Bo, Yang Yuan, Liu Yunqiang, Li Hong, Ren Shangqing, Peng Zhufeng, Fang Kun, Yang Luchen, Dong Qia |
Novel LAMA2 variants identified in a patient with white matter abnormalities. Human genome variation 2020 6 7 16. Yamamoto-Shimojima Keiko, Ono Hiroaki, Imaizumi Taichi, Yamamoto Toshiyu |
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. Seizure 2020 6 80 145-152. Accogli Andrea, Severino Mariasavina, Riva Antonella, Madia Francesca, Balagura Ganna, Iacomino Michele, Carlini Barbara, Baldassari Simona, Giacomini Thea, Croci Carolina, Pisciotta Livia, Messana Tullio, Boni Antonella, Russo Angelo, Bilo Leonilda, Tonziello Rosa, Coppola Antonietta, Filla Alessandro, Mecarelli Oriano, Casalone Rosario, Pisani Francesco, Falsaperla Raffaele, Marino Silvia, Parisi Pasquale, Ferretti Alessandro, Elia Maurizio, Luchetti Anna, Milani Donatella, Vanadia Francesca, Silvestri Laura, Rebessi Erika, Parente Eliana, Vatti Giampaolo, Mancardi Maria Margherita, Nobili Lino, Capra Valeria, Salpietro Vincenzo, Striano Pasquale, Zara Federi |
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscular disorders : NMD 2020 5 30 (6): 457-471. Abdel Aleem Alice, Elsaid Mahmoud F, Chalhoub Nader, Chakroun Almahdi, Mohamed Khalid A S, AlShami Rana, Kuzu Omer, Mohamed Reem B, Ibrahim Khalid, AlMudheki Noora, Osman Omar, Ross M Elizabeth, ELalamy Osa |
Non-additive (dominance) effects of genetic variants associated with refractive error and myopia. Molecular genetics and genomics : MGG 2020 Mar . Pozarickij Alfred, Williams Cathy, Guggenheim Jeremy A, |
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular genetics & genomic medicine 2020 3 8 (5): e1205. Tsang Mandy H Y, Chiu Annie T G, Kwong Bernard M H, Liang Rui, Yu Mullin H C, Yeung Kit-San, Ho Wetor H L, Mak Christopher C Y, Leung Gordon K C, Pei Steven L C, Fung Jasmine L F, Wong Virginia C N, Muntoni Francesco, Chung Brian H Y, Chan Sophelia H |
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study. Journal of personalized medicine 2020 12 10 (4): . Hong Syuan-Yu, Yang Jiann-Jou, Li Shuan-Yow, Lee Inn-C |
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort. Orphanet journal of rare diseases 2021 7 16 (1): 319. Tan Dandan, Ge Lin, Fan Yanbin, Chang Xingzhi, Wang Shuang, Wei Cuijie, Ding Juan, Liu Aijie, Wang Shuo, Li Xueying, Gao Kai, Yang Haipo, Que Chengli, Huang Zhen, Li Chunde, Zhu Ying, Mao Bing, Jin Bo, Hua Ying, Zhang Xiaoli, Zhang Bingbing, Zhu Wenhua, Zhang Cheng, Wang Yanjuan, Yuan Yun, Jiang Yuwu, Rutkowski Anne, Bönnemann Carsten G, Wu Xiru, Xiong H |
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes. PeerJ 2021 2 9 e10711. Guelly Christian, Abilova Zhannur, Nuralinov Omirbek, Panzitt Katrin, Akhmetova Ainur, Rakhimova Saule, Kozhamkulov Ulan, Kairov Ulykbek, Molkenov Askhat, Seisenova Ainur, Trajanoski Slave, Abildinova Rashbayeva Gulzhaina, Kaussova Galina, Windpassinger Christian, Lee Joseph H, Zhumadilov Zhaxybay, Bekbossynova Makhabbat, Akilzhanova Ain |
Genetic and Epigenetic Impact of Chronic Inflammation on Colon Mucosa Cells. Frontiers in genetics 2021 11 12 722835. He Jia, Han Jimin, Liu Jia, Yang Ronghua, Wang Jingru, Wang Xusheng, Chen Xiaodo |
The immune subtypes and landscape of sarcomas. BMC immunology 2022 9 23 (1): 46. Weng Weiwei, Yu Lin, Li Zhang, Tan Cong, Lv Jiaojie, Lao I Weng, Hu Wenhuo, Deng Zhenzhong, Liu Zebing, Wang Jian, Xu Mid |
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Annals of clinical and translational neurology 2022 6 9 (8): 1302-1309. Bruels Christine C, Littel Hannah R, Daugherty Audrey L, Stafki Seth, Estrella Elicia A, McGaughy Emily S, Truong Don, Badalamenti Jonathan P, Pais Lynn, Ganesh Vijay S, O'Donnell-Luria Anne, Stalker Heather J, Wang Yang, Collins Christin, Behlmann Andrea, Lemmers Richard J L F, van der Maarel Silvère M, Laine Regina, Ghosh Partha S, Darras Basil T, Zingariello Carla D, Pacak Christina A, Kunkel Louis M, Kang Peter |
Extracellular Matrix-Based Gene Expression Signature Defines Two Prognostic Subtypes of Hepatocellular Carcinoma With Different Immune Microenvironment Characteristics. Frontiers in molecular biosciences 2022 4 9 839806. Tang Hui, You Tingting, Sun Zhao, Bai Chunmei, Wang Ying |
Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.
PLoS genetics 2022 11 18 (11): e1010478. Clark Rosie, Pozarickij Alfred, Hysi Pirro G, Ohno-Matsui Kyoko, Williams Cathy, Guggenheim Jeremy A, |
Alu Deletions in LAMA2 and CDH4 Genes Are Key Components of Polygenic Predictors of Longevity. International journal of molecular sciences 2022 11 23 (21): . Erdman Vera V, Karimov Denis D, Tuktarova Ilsia A, Timasheva Yanina R, Nasibullin Timur R, Korytina Gulnaz |
DNA Repair and Replication-Related Gene Signature Based on Tumor Mutation Burden Reveals Prognostic and Immunotherapy Response in Gastric Cancer. Journal of oncology 2022 1 2022 6469523. Zhang Lei, Hu Dahai, Huangfu Shuchen, Zhou Jiaxin, Wang Wei, Liu Shijin, Tang Hui, Pan Jinghua, Pan Yunlo |
A genome-wide analysis of 340?318 participants identifies four novel loci associated with the age of first spectacle wear.
Human molecular genetics 2022 2 31 (17): 3012-3019. Patasova Karina, Khawaja Anthony P, Wojciechowski Robert, Mahroo Omar A, Falchi Mario, Rahi Jugnoo S, Hammond Chris J, Hysi Pirro G, |
Genetic findings in Czech patients with limb girdle muscular dystrophy. Clinical genetics 2023 8 . Jana Zídková, Tereza Kramá?ová, Johana Kop?ilová, Kamila Réblová, Jana Haberlová, Radim Mazanec, Stanislav Vohá?ka, Andrea G?ego?ová, Martina Langová, Tomáš Honzík, Jana Šoukalová, Hana Ošlejšková, Pavla Sola?ová, Emílie Vyhnálková, Lenka Fajkuso |
Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families. International journal of molecular sciences 2023 7 24 (14): . I-Hang Chung, Yu-Shu Huang, Ting-Hsuan Fang, Chia-Hsiang Ch |
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients. Frontiers in neurology 2023 5 14 1158094. Xiuli Huang, Dandan Tan, Zaiqiang Zhang, Lin Ge, Jieyu Liu, Juan Ding, Haipo Yang, Cuijie Wei, Xingzhi Chang, Yun Yuan, Chuanzhu Yan, Hui Xio |
Hypoglycemia in Patients With LAMA2-CMD. Pediatric neurology 2023 3 143 1-5. Camelo Clara Gontijo, Martins Moreno Cristiane de Araújo, Artilheiro Mariana Cunha, Serafim Silva André Macedo, Quadros Monteiro Fonseca Alulin Tácio, Mendonça de Holanda Rodrigo, Reed Umbertina Conti, Zanoteli Edm |
Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration. Genes 2023 2 14 (2): . Narta Kiran, Teltumbade Manoj Ramesh, Vishal Mansi, Sadaf Samreen, Faruq Mohd, Jama Hodan, Waseem Naushin, Rao Aparna, Sen Abhijit, Ray Kunal, Mukhopadhyay Arij |
The Interaction of LAMA2 and Duration of Illness Affects the Thickness of the Right Transverse Temporal Gyrus in Major Depressive Disorder. Neuropsychiatric disease and treatment 2023 12 19 2807-2816. Gang Chen, Lei Li, Taipeng Sun, Chenguang Jiang, Wei Xu, Suzhen Chen, Changchun Hu, Yingying Yue, Tianyu Wang, Wenhao Jiang, Yonggui Yu |
LAMC1, LAMA2 and LAMA3 gene polymorphisms and the risk for severe pelvic organ prolapse. Science bulletin 2023 1 64 (7): 466-468. Li Lei, Kang Jia, Zhang Ye, Mao Meng, Yang Yuxiang, Lang Jinghe, Sun Zhijing, Chen Juan, Zhu L |
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 |
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- Page last updated:Apr 22, 2024
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