HuGE Literature Finder
|
||
Records 1-46
|
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
ESC heart failure 2019 Feb . Jääskeläinen Pertti, Vangipurapu Jagadish, Raivo Joose, Kuulasmaa Teemu, Heliö Tiina, Aalto-Setälä Katriina, Kaartinen Maija, Ilveskoski Erkki, Vanninen Sari, Hämäläinen Liisa, Melin John, Kokkonen Jorma, Nieminen Markku S, , Laakso Markku, Kuusisto Johan |
|
Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy.
ESC heart failure 2019 Jan . Hodatsu Akihiko, Fujino Noboru, Uyama Yuki, Tsukamoto Osamu, Imai-Okazaki Atsuko, Yamazaki Satoru, Seguchi Osamu, Konno Tetsuo, Hayashi Kenshi, Kawashiri Masa-Aki, Asano Yoshihiro, Kitakaze Masafumi, Takashima Seiji, Yamagishi Masaka |
|
Identification of sarcomeric variants in probands with a clinical diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).
Journal of cardiovascular electrophysiology 2018 Apr . Murray Brittney, Hoorntje Edgar T, Te Riele Anneline S J M, Tichnell Crystal, van der Heijden Jeroen F, Tandri Harikrishna, van den Berg Maarten P, Jongbloed Jan D H, Wilde Arthur A M, Hauer Richard N W, Calkins Hugh, Judge Daniel P, James Cynthia A, van Tintelen J Peter, Dooijes Denn |
|
New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.
Scientific reports 2018 Apr 8 (1): 5701. Lee Ho-Sun, Kim Yongkang, Park Taesu |
|
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Circulation. Cardiovascular genetics 2017 Apr 10 (2): . Gómez Juan, Lorca Rebeca, Reguero Julian R, Morís César, Martín María, Tranche Salvador, Alonso Belén, Iglesias Sara, Alvarez Victoria, Díaz-Molina Beatriz, Avanzas Pablo, Coto Eliec |
|
Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population.
Environmental health : a global access science source 2017 Feb 16 (1): 11. Eom Sang-Yong, Hwang Myung Sil, Lim Ji-Ae, Choi Byung-Sun, Kwon Ho-Jang, Park Jung-Duck, Kim Yong-Dae, Kim He |
|
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
PloS one 2017 12 (8): e0181465. Mademont-Soler Irene, Mates Jesus, Yotti Raquel, Espinosa Maria Angeles, Pérez-Serra Alexandra, Fernandez-Avila Ana Isabel, Coll Monica, Méndez Irene, Iglesias Anna, Del Olmo Bernat, Riuró Helena, Cuenca Sofía, Allegue Catarina, Campuzano Oscar, Picó Ferran, Ferrer-Costa Carles, Álvarez Patricia, Castillo Sergio, Garcia-Pavia Pablo, Gonzalez-Lopez Esther, Padron-Barthe Laura, Díaz de Bustamante Aranzazu, Darnaude María Teresa, González-Hevia José Ignacio, Brugada Josep, Fernandez-Aviles Francisco, Brugada Ram |
|
Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.
Genetic testing and molecular biomarkers 2016 Nov 20 (11): 674-679. Jaafar Nawel, Gómez Juan, Kammoun Ikram, Zairi Ihsen, Amara Wael Ben, Kachboura Salem, Kraiem Sondes, Hammami Mohamed, Iglesias Sara, Alonso Belén, Coto Eliec |
|
Mutations of NKX2.5 and GATA4 genes in the development of congenital heart disease.
Gene 2016 Aug 588 (1): 86-94. Tong Yi-F |
|
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.
International journal of molecular medicine 2016 Apr . Zhao Yue, Cao Hong, Song Yindi, Feng Yue, Ding Xiaoxue, Pang Mingjie, Zhang Yunmei, Zhang Hong, Ding Jiahuan, Xia Xuesh |
|
Effect of obesity on the association between MYL2 (rs3782889) and high-density lipoprotein cholesterol among Korean men.
Journal of human genetics 2016 Jan . Cho Eo Rin, Jee Yon Ho, Kim Sang Won, Sull Jae Woo |
|
Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy.
The American journal of cardiology 2016 Jan . Bongini Carolina, Ferrantini Cecilia, Girolami Francesca, Coppini Raffaele, Arretini Anna, Targetti Mattia, Bardi Sara, Castelli Gabriele, Torricelli Francesca, Cecchi Franco, Ackerman Michael J, Padeletti Luigi, Poggesi Corrado, Olivotto Iaco |
|
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
International journal of molecular sciences 2016 17 (8): . Rubattu Speranza, Bozzao Cristina, Pennacchini Ermelinda, Pagannone Erika, Musumeci Beatrice Maria, Piane Maria, Germani Aldo, Savio Camilla, Francia Pietro, Volpe Massimo, Autore Camillo, Chessa Lucia |
|
Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.
Scientific reports 2016 6 25360. Sakiyama Masayuki, Matsuo Hirotaka, Nakaoka Hirofumi, Yamamoto Ken, Nakayama Akiyoshi, Nakamura Takahiro, Kawai Sayo, Okada Rieko, Ooyama Hiroshi, Shimizu Toru, Shinomiya Nariyos |
|
Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.
Clinica chimica acta; international journal of clinical chemistry 2015 Jun 446 132-40. Glotov Andrey S, Kazakov Sergey V, Zhukova Elena A, Alexandrov Anton V, Glotov Oleg S, Pakin Vladimir S, Danilova Maria M, Poliakova Irina V, Niyazova Svetlana S, Chakova Natalia N, Komissarova Svetlana M, Kurnikova Elena A, Sarana Andrey M, Sherbak Sergey G, Sergushichev Alexey A, Shalyto Anatoly A, Baranov Vladislav |
|
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 |
|
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
Heart and vessels 2015 Mar 30 (2): 258-64. Tian Tao, Wang Jizheng, Wang Hu, Sun Kai, Wang Yilu, Jia Lei, Zou Yubao, Hui Rutai, Zhou Xianliang, Song L |
Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.
Annals of the rheumatic diseases 2015 Feb . Matsuo Hirotaka, Yamamoto Ken, Nakaoka Hirofumi, Nakayama Akiyoshi, Sakiyama Masayuki, Chiba Toshinori, Takahashi Atsushi, Nakamura Takahiro, Nakashima Hiroshi, Takada Yuzo, Danjoh Inaho, Shimizu Seiko, Abe Junko, Kawamura Yusuke, Terashige Sho, Ogata Hiraku, Tatsukawa Seishiro, Yin Guang, Okada Rieko, Morita Emi, Naito Mariko, Tokumasu Atsumi, Onoue Hiroyuki, Iwaya Keiichi, Ito Toshimitsu, Takada Tappei, Inoue Katsuhisa, Kato Yukio, Nakamura Yukio, Sakurai Yutaka, Suzuki Hiroshi, Kanai Yoshikatsu, Hosoya Tatsuo, Hamajima Nobuyuki, Inoue Ituro, Kubo Michiaki, Ichida Kimiyoshi, Ooyama Hiroshi, Shimizu Toru, Shinomiya Nariyos |
|
Identification of novel risk genes associated with type 1 diabetes mellitus using a genome-wide gene-based association analysis.
Journal of diabetes investigation 2014 Nov 5 (6): 649-56. Qiu Ying-Hua, Deng Fei-Yan, Li Min-Jing, Lei Shu-Fe |
|
Genetics of hypertrophic cardiomyopathy in Norway.
Clinical genetics 2014 Oct 86 (4): 355-60. Berge K E, Leren T |
|
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
Human molecular genetics 2014 Oct 23 (20): 5492-504. Wen Wanqing, Zheng Wei, Okada Yukinori, Takeuchi Fumihiko, Tabara Yasuharu, Hwang Joo-Yeon, Dorajoo Rajkumar, Li Huaixing, Tsai Fuu-Jen, Yang Xiaobo, He Jiang, Wu Ying, He Meian, Zhang Yi, Liang Jun, Guo Xiuqing, Sheu Wayne Huey-Herng, Delahanty Ryan, Guo Xingyi, Kubo Michiaki, Yamamoto Ken, Ohkubo Takayoshi, Go Min Jin, Liu Jian Jun, Gan Wei, Chen Ching-Chu, Gao Yong, Li Shengxu, Lee Nanette R, Wu Chen, Zhou Xueya, Song Huaidong, Yao Jie, Lee I-Te, Long Jirong, Tsunoda Tatsuhiko, Akiyama Koichi, Takashima Naoyuki, Cho Yoon Shin, Ong Rick Th, Lu Ling, Chen Chien-Hsiun, Tan Aihua, Rice Treva K, Adair Linda S, Gui Lixuan, Allison Matthew, Lee Wen-Jane, Cai Qiuyin, Isomura Minoru, Umemura Satoshi, Kim Young Jin, Seielstad Mark, Hixson James, Xiang Yong-Bing, Isono Masato, Kim Bong-Jo, Sim Xueling, Lu Wei, Nabika Toru, Lee Juyoung, Lim Wei-Yen, Gao Yu-Tang, Takayanagi Ryoichi, Kang Dae-Hee, Wong Tien Yin, Hsiung Chao Agnes, Wu I-Chien, Juang Jyh-Ming Jimmy, Shi Jiajun, Choi Bo Youl, Aung Tin, Hu Frank, Kim Mi Kyung, Lim Wei Yen, Wang Tzung-Dao, Shin Min-Ho, Lee Jeannette, Ji Bu-Tian, Lee Young-Hoon, Young Terri L, Shin Dong Hoon, Chun Byung-Yeol, Cho Myeong-Chan, Han Bok-Ghee, Hwu Chii-Min, Assimes Themistocles L, Absher Devin, Yan Xiaofei, Kim Eric, Kuo Jane Z, Kwon Soonil, Taylor Kent D, Chen Yii-Der I, Rotter Jerome I, Qi Lu, Zhu Dingliang, Wu Tangchun, Mohlke Karen L, Gu Dongfeng, Mo Zengnan, Wu Jer-Yuarn, Lin Xu, Miki Tetsuro, Tai E Shyong, Lee Jong-Young, Kato Norihiro, Shu Xiao-Ou, Tanaka Toshihi |
|
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy.
The American journal of cardiology 2014 Sep 114 (5): 769-76. Biagini Elena, Olivotto Iacopo, Iascone Maria, Parodi Maria I, Girolami Francesca, Frisso Giulia, Autore Camillo, Limongelli Giuseppe, Cecconi Massimiliano, Maron Barry J, Maron Martin S, Rosmini Stefania, Formisano Francesco, Musumeci Beatrice, Cecchi Franco, Iacovoni Attilio, Haas Tammy S, Bacchi Reggiani Maria L, Ferrazzi Paolo, Salvatore Francesco, Spirito Paolo, Rapezzi Claud |
|
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
Mayo Clinic proceedings 2014 Jun 89 (6): 727-37. Bos J Martijn, Will Melissa L, Gersh Bernard J, Kruisselbrink Teresa M, Ommen Steve R, Ackerman Michael |
|
Male-specific genetic effect on hypertension and metabolic disorders.
Human genetics 2014 Mar 133 (3): 311-9. Heo Seong Gu, Hwang Joo-Yeon, Uhmn Saangyong, Go Min Jin, Oh Burmseok, Lee Jong-Young, Park Ji W |
|
A two-stage association study suggests BRAP as a susceptibility gene for schizophrenia.
PloS one 2014 9 (1): e86037. Zhang Fuquan, Liu Chenxing, Xu Yong, Qi Guoyang, Yuan Guozhen, Cheng Zaohuo, Wang Jidong, Wang Guoqiang, Wang Zhiqiang, Zhu Wei, Zhou Zhenhe, Zhao Xingfu, Tian Lin, Jin Chunhui, Yuan Janmin, Zhang Guofu, Chen Yaguang, Wang Lifang, Lu Tianlan, Yan Hao, Ruan Yanyan, Yue Weihua, Zhang D |
|
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
Circulation journal : official journal of the Japanese Circulation Society 2014 78 (12): 2963-71. Gómez Juan, Reguero Julian R, Morís César, Martín María, Alvarez Victoria, Alonso Belén, Iglesias Sara, Coto Eliec |
|
Sarcomere gene mutations are associated with increased cardiovascular events in left ventricular hypertrophy: results from multicenter registration in Japan.
JACC. Heart failure 2013 Dec 1 (6): 459-66. Fujita Takashi, Fujino Noboru, Anan Ryuichiro, Tei Chuwa, Kubo Toru, Doi Yoshinori, Kinugawa Shintaro, Tsutsui Hiroyuki, Kobayashi Shigeki, Yano Masafumi, Asakura Masanori, Kitakaze Masafumi, Komuro Issei, Konno Tetsuo, Hayashi Kenshi, Kawashiri Masa-aki, Ino Hidekazu, Yamagishi Masaka |
|
New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
Journal of human genetics 2013 Jun 58 (6): 362-5. Go Min Jin, Hwang Joo-Yeon, Kim Young Jin, Hee Oh Ji, Kim Yeon-Jung, Heon Kwak Soo, Soo Park Kyung, Lee Juyoung, Kim Bong-Jo, Han Bok-Ghee, Cho Myeong-Chan, Cho Yoon Shin, Lee Jong-You |
|
Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents: A 12 Year Follow-Up Study of Clinical Screening and Predictive Genetic Testing.
Circulation 2012 Nov . Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Køber L, Bundgaard H |
|
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 |
|
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
BMC medical genetics 2012 13 (1): 17. Santos Susana, Marques Vanda, Pires Marina, Silveira Leonor, Oliveira Helena, Lança Vasco, Brito Dulce, Madeira Hugo, Esteves J Fonseca, Freitas António, Carreira Isabel M, Gaspar Isabel M, Monteiro Carolino, Fernandes Alexandra |
|
Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects.
PloS one 2011 6 (12): 12. Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Ozcelik C |
|
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Nature genetics 2011 Oct 43 (10): 990-5. Kim Young Jin, Go Min Jin, Hu Cheng, Hong Chang Bum, Kim Yun Kyoung, Lee Ji Young, Hwang Joo-Yeon, Oh Ji Hee, Kim Dong-Joon, Kim Nam Hee, Kim Soeui, Hong Eun Jung, Kim Ji-Hyun, Min Haesook, Kim Yeonjung, Zhang Rong, Jia Weiping, Okada Yukinori, Takahashi Atsushi, Kubo Michiaki, Tanaka Toshihiro, Kamatani Naoyuki, Matsuda Koichi, , Park Taesung, Oh Bermseok, Kimm Kuchan, Kang Daehee, Shin Chol, Cho Nam H, Kim Hyung-Lae, Han Bok-Ghee, Lee Jong-Young, Cho Yoon Sh |
|
Identification and prioritization of NUAK1 and PPP1CC as positional candidate loci for skeletal muscle strength phenotypes.
Physiological genomics 2011 Sep 43 (17): 981-92. Windelinckx An, De Mars Gunther, Huygens Wim, Peeters Maarten W, Vincent Barbara, Wijmenga Cisca, Lambrechts Diether, Aerssens Jeroen, Vlietinck Robert, Beunen Gaston, Thomis Martine A |
|
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
The American journal of clinical nutrition 2011 Apr 93 (4): 809-16. Baik Inkyung, Cho Nam H, Kim Seong Hwan, Han Bok-Ghee, Shin Ch |
|
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
Journal of the American College of Cardiology 2010 Apr 55 (14): 1444-53. Girolami Francesca, Ho Carolyn Y, Semsarian Christopher, Baldi Massimo, Will Melissa L, Baldini Katia, Torricelli Francesca, Yeates Laura, Cecchi Franco, Ackerman Michael J, Olivotto Iaco |
|
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.
Human genetics 2010 Mar 127 (3): 325-36. LopezJimenez Nelson, Gerber Simon, Popovici Vlad, Mirza Sonia, Copren Kirsten, Ta Linda, Shaw Gary M, Trueb Beat, Slavotinek Anne |
|
Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
PloS one 2010 5 (7): e11493. Jugessur Astanand, Shi Min, Gjessing Håkon Kristian, Lie Rolv Terje, Wilcox Allen James, Weinberg Clarice Ring, Christensen Kaare, Boyles Abee Lowman, Daack-Hirsch Sandra, Nguyen Truc Trung, Christiansen Lene, Lidral Andrew Carl, Murray Jeffrey Cla |
|
Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations.
American heart journal 2009 Nov 158 (5): 799-805. McLeod Christopher J, Bos J Martijn, Theis Jeanne L, Edwards William D, Gersh Bernard J, Ommen Steve R, Ackerman Michael |
|
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
European journal of heart failure 2009 Nov 11 (11): 1031-5. Møller Daniel Vega, Pham Tam Thanh, Gustafsson Finn, Hedley Paula, Ersbøll Mads Kristian, Bundgaard Henning, Andersen Claus B, Torp-Pedersen Christian, Køber Lars, Christiansen Micha |
|
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
Circulation. Cardiovascular genetics 2009 Oct 2 (5): 436-41. Kaski Juan Pablo, Syrris Petros, Esteban Maria Teresa Tome, Jenkins Sharon, Pantazis Antonios, Deanfield John E, McKenna William J, Elliott Perry |
|
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
European journal of human genetics : EJHG 2009 Oct 17 (10): 1241-9. Møller Daniel Vega, Andersen Paal Skytt, Hedley Paula, Ersbøll Mads Kristian, Bundgaard Henning, Moolman-Smook Johanna, Christiansen Michael, Køber La |
|
Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.
American heart journal 2008 Jun 155 (6): 1128-34. Bos J Martijn, Theis Jeanne L, Tajik A Jamil, Gersh Bernard J, Ommen Steve R, Ackerman Michael |
|
Shared genetic causes of cardiac hypertrophy in children and adults.
The New England journal of medicine 2008 May 358 (18): 1899-908. Morita Hiroyuki, Rehm Heidi L, Menesses Andres, McDonough Barbara, Roberts Amy E, Kucherlapati Raju, Towbin Jeffrey A, Seidman J G, Seidman Christine |
|
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
Journal of medical genetics 2005 Oct 42 (10): e59. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian |
|
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
European journal of human genetics : EJHG 2002 Nov 10 (11): 741-8. Kabaeva Zhyldyz T, Perrot Andreas, Wolter Bastian, Dietz Rainer, Cardim Nuno, Correia João Martins, Schulte Hagen D, Aldashev Almaz A, Mirrakhimov Mirsaid M, Osterziel Karl Jos |
- Page last reviewed:Jul 30, 2019
- Page last updated:Oct 10, 2019
- Content source: