Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Abnormalities and LMNA[original query] |
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Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. Circulation. Cardiovascular genetics 2017 Aug 10 (4): . Hoorntje Edgar T, Bollen Ilse A, Barge-Schaapveld Daniela Q, van Tienen Florence H, Te Meerman Gerard J, Jansweijer Joeri A, van Essen Anthonie J, Volders Paul G, Constantinescu Alina A, van den Akker Peter C, van Spaendonck-Zwarts Karin Y, Oldenburg Rogier A, Marcelis Carlo L, van der Smagt Jasper J, Hennekam Eric A, Vink Aryan, Bootsma Marianne, Aten Emmelien, Wilde Arthur A, van den Wijngaard Arthur, Broers Jos L, Jongbloed Jan D, van der Velden Jolanda, van den Berg Maarten P, van Tintelen J Pet |
Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation. Diabetes & metabolism 2018 Oct . Kwapich M, Lacroix D, Espiard S, Ninni S, Brigadeau F, Kouakam C, Degroote P, Laurent J M, Tiffreau V, Jannin A, Humbert L, Ben Hamou A, Tard C, Ben Yaou R, Lamblin N, Klug D, Richard P, Vigouroux C, Bonne G, Vantyghem M C, |
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort. Diabetes 2019 12 69 (2): 249-258. Gonzaga-Jauregui Claudia, Ge Wenzhen, Staples Jeffrey, Van Hout Cristopher, Yadav Ashish, Colonie Ryan, Leader Joseph B, Kirchner H Lester, Murray Michael F, Reid Jeffrey G, Carey David J, Overton John D, Shuldiner Alan R, Gottesman Omri, Gao Steve, Gromada Jesper, Baras Aris, Altarejos Judith, |
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy. Clinical diabetes and endocrinology 2020 7 6 13. Soyaltin Utku Erdem, Simsir Ilgin Yildirim, Akinci Baris, Altay Canan, Adiyaman Suleyman Cem, Lee Kristen, Onay Huseyin, Oral Elif Ariog |
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. Orphanet journal of rare diseases 2020 6 15 (1): 160. Liang Wen-Chen, Jong Yuh-Jyh, Wang Chien-Hua, Wang Chen-Hua, Tian Xia, Chen Wan-Zi, Kan Tzu-Min, Minami Narihiro, Nishino Ichizo, Wong Lee-Jun |
Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy. Cardiology research and practice 2021 2 2021 8812044. Marchel Micha?, Madej-Pilarczyk Agnieszka, Tymi?ska Agata, Steckiewicz Roman, Kochanowski Janusz, Wysi?ska Julia, Ostrowska Ewa, Balsam Pawe?, Grabowski Marcin, Opolski Grzego |
Cardiac phenotype in familial partial lipodystrophy. Clinical endocrinology 2021 1 94 (6): 1043-1053. Eldin Abdelwahab Jalal, Akinci Baris, da Rocha Andre Monteiro, Meral Rasimcan, Simsir Ilgin Yildirim, Adiyaman Suleyman Cem, Ozpelit Ebru, Bhave Nicole, Gen Ramazan, Yurekli Banu, Ozdemir Kutbay Nilufer, Siklar Zeynep, Neidert Adam H, Hench Rita, Tayeh Marwan K, Innis Jeffrey W, Jalife Jose, Oral Hakan, Oral Elif |
Role of genetic testing in young patients with idiopathic atrioventricular conduction disease. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2022 11 25 (2): 643-650. Auricchio Angelo, Demarchi Andrea, Özkartal Tardu, Campanale Daniela, Caputo Maria Luce, di Valentino Marcello, Menafoglio Andrea, Regoli Francois, Facchini Marco, Del Bufalo Alessandro, Foglia Pietro, Ferrari Nicola, Bomio Fulvio, Medeiros-Domingo Argelia, Moccetti Tiziano, Pedrazzini Giovanni B, Klersy Catherine, Conte Giul |
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 |
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China. Pediatric research 2024 1 . Jingjing Wang, Qinmei Yu, Xiaoxiao Tang, Leslie B Gordon, Junyi Chen, Buchun Jiang, Guoping Huang, Haidong Fu, Jianqin Qian, Zhihong Liu, Jianhua M |
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- Page last updated:Apr 22, 2024
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