Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 19 (of 19 Records) |
| Query Trace: Familial Hypertrophic Cardiomyopathy[original query] |
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| Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochemical and biophysical research communications 2003 Apr 304 (1): 1-4. Minamisawa Susumu, Sato Yoji, Tatsuguchi Yuriko, Fujino Tomofumi, Imamura Shin-ichiro, Uetsuka Yoshio, Nakazawa Makoto, Matsuoka Rumi |
| Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. Journal of clinical pathology 2005 May 58 (5): 479-85. Yu B, Sawyer N A, Caramins M, Yuan Z G, Saunderson R B, Pamphlett R, Richmond D R, Jeremy R W, Trent R |
| Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy. Medical science monitor : international medical journal of experimental and clinical research 2008 Jul 14 (7): CR372-4. Posch Maximilian G, Thiemann Laura, Tomasov Pavol, Veselka Josef, Cardim Nuno, Garcia-Castro Monica, Coto Eliecer, Perrot Andreas, Geier Christian, Dietz Rainer, Haverkamp Wilhelm, Ozcelik Cem |
| Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatric cardiology 2008 Jul 29 (4): 846-50. Frazier Aisha, Judge Daniel P, Schulman Steven P, Johnson Nicole, Holmes Kathryn W, Murphy Anne |
| A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy. European heart journal 2009 Jul 30 (13): 1648-55. Friedrich Felix W, Bausero Pedro, Sun Yuli, Treszl Andras, Krämer Elisabeth, Juhr Denise, Richard Pascale, Wegscheider Karl, Schwartz Ketty, Brito Dulce, Arbustini Eloisa, Waldenström Anders, Isnard Richard, Komajda Michel, Eschenhagen Thomas, Carrier Lucie, |
| [Link between cardiac myosin binding protein-C gene mutation of Pro1208fs and Gly507 Arg and hypertrophic cardiomyopathy in Chinese patients]. Zhonghua xin xue guan bing za zhi 2009 Sep 37 (9): 790-3. Li Min, Cheng Kuan, Wang Qi-Bing, Zhu Wen-Qing, Qin Sheng-Mei, Cui Jie, Shu Xian-Hong, Chen Rui-Zhen, Ge Jun-Bo, Chen Hao-Z |
| The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy. Journal of the renin-angiotensin-aldosterone system : JRAAS 2010 Dec . Manohar Rao PP, Munshi A, Mullapudi R, Kumar PS, Sharath A, Krishna GA, Sadhnani M |
| Microsatellite marker analysis in the treatment and diagnosis of familial hypertrophic cardiomyopathy. Acta poloniae pharmaceutica 2011 1 67 (6): 669-72. Smolik S?awomir, Domal-Kwiatkowska Dorota, Kapral Ma?gorzata, Weglarz Ludmi |
| Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2012 Sep 31 (9): 577-87. Brito Dulce, Miltenberger-Miltenyi Gabriel, Vale Pereira Sónia, Silva Doroteia, Diogo António Nunes, Madeira Hu |
| A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations. Heart (British Cardiac Society) 2013 Dec 99 (24): 1800-11. Lopes Luís R, Rahman M Shafiqur, Elliott Perry |
| Association between angiotensinogen M235T polymorphism and hypertrophic cardiomyopathy. International journal of clinical and experimental medicine 2015 8 (6): 8767-75. Yao Jia-Lu, Sun Si-Jia, Zhou Ya-Feng, Xu Lang-Biao, Yang Xiang-Jun, Qian Xiao-Do |
| Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy. BioMed research international 2015 2015 561819. Zhao Yue, Feng Yue, Zhang Yun-Mei, Ding Xiao-Xue, Song Yu-Zhu, Zhang A-Mei, Liu Li, Zhang Hong, Ding Jia-Huan, Xia Xue-Sh |
| Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM. DNA and cell biology 2015 May 34 (5): 350-9. Selvi Rani Deepa, Nallari Pratibha, Dhandapany Perundurai S, Rani Jhansi, Meraj Khunza, Ganesan Mala, Narasimhan Calambur, Thangaraj Kumarasa |
| Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy. European journal of medical genetics 2018 3 61 (8): 434-441. Zhou Nianwei, Qin Shengmei, Liu Yili, Tang Lu, Zhao Weipeng, Pan Cuizhen, Qiu Zilong, Wang Xiaolin, Shu Xianho |
| Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine 2020 8 13 (5): 396-405. Helms Adam S, Thompson Andrea D, Glazier Amelia A, Hafeez Neha, Kabani Samat, Rodriguez Juliani, Yob Jaime M, Woolcock Helen, Mazzarotto Francesco, Lakdawala Neal K, Wittekind Samuel G, Pereira Alexandre C, Jacoby Daniel L, Colan Steven D, Ashley Euan A, Saberi Sara, Ware James S, Ingles Jodie, Semsarian Christopher, Michels Michelle, Olivotto Iacopo, Ho Carolyn Y, Day Sharlene |
| Angiotensinogen M235T polymorphism and susceptibility to hypertrophic cardiomyopathy in Asian population: A meta analysis. Journal of the renin-angiotensin-aldosterone system : JRAAS 0 21 (4): 1470320320978100. Zhen Zhen, Gao Lu, Wang Qin, Chen Xi, Na Jia, Xu Xiwei, Yuan Y |
| MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations. BMC cardiovascular disorders 2022 6 22 (1): 278. Lin Li-Rong, Hu Xue-Qun, Lu Li-Hong, Dai Jia-Zhen, Lin Ning-Ning, Wang Re-Hua, Xie Zhang-Xin, Chen Xue-M |
| Early Diagnosis of Abnormal Left Ventricular Systolic Functions of Rare Pathogenic Titin Mutation Gene Carriers in FHCM by Three-Dimensional Speckle Tracking Echocardiography Combined with Gene Detection. International journal of clinical practice 2022 10 2022 3415545. Luo Xiang-Hong, Zhu Rui, Chen Qian, Shi Pei-Hong, Na Li-S |
| High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients. Frontiers in cardiovascular medicine 2024 7 11 1424551. Seung Woo Ryu, Won Chan Jeong, Geu Ru Hong, Jung Sun Cho, Soo Yong Lee, Hyungseop Kim, Jeong Yoon Jang, Sun Hwa Lee, Dae-Hwan Bae, Jae Yeong Cho, Ji Hee Kim, Kyung-Hee Kim, Jang Won Son, Beomman Han, Go Hun Seo, Hane L |
- Page last reviewed:Feb 1, 2024
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