Publications:

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Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: MYBPC3: 1409G>A; Arg470Gln

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.

Acta Cardiologica Sinica

Yeh, Jih-Kai JK; Liu, Wei-Hsiu WH; Wang, Chao-Yung CY; Lu, Jang-Jih JJ; Chen, Chien-Hsiun CH; Wu-Chou, Yah-Huei YH; Chang, Pi-Yueh PY; Chang, Shih-Cheng SC; Yang, Chia-Hung CH; Tsai, Ming-Lung ML; Ho, Ming-Yun MY; Hsieh, I-Chang IC; Wen, Ming-Shien MS

Publication Date: 2019-11

Variant appearance in text: MYBPC3: R470Q; rs776734314

PubMed Link: 31879508

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinicopathological and Genetic Profiles of Cases with Myocytes Disarray-Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy.

Journal Of Clinical Medicine

Hata, Yukiko Y; Ichimata, Shojiro S; Yamaguchi, Yoshiaki Y; Hirono, Keiichi K; Oku, Yuko Y; Ichida, Fukiko F; Nishida, Naoki N

Publication Date: 2019-04-05

Variant appearance in text: MYBPC3: R470Q

PubMed Link: 30959811

Variant Present in the following documents:

• Main text
• jcm-08-00463.pdf
• jcm-08-00463-s001.pdf

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYBPC3: Arg470Gln

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

International Journal Of Molecular Medicine

Cecconi, Massimiliano M; Parodi, Maria I MI; Formisano, Francesco F; Spirito, Paolo P; Autore, Camillo C; Musumeci, Maria B MB; Favale, Stefano S; Forleo, Cinzia C; Rapezzi, Claudio C; Biagini, Elena E; Davì, Sabrina S; Canepa, Elisabetta E; Pennese, Loredana L; Castagnetta, Mauro M; Degiorgio, Dario D; Coviello, Domenico A DA

Publication Date: 2016-10

Variant appearance in text: MYBPC3: 1409G>A; Arg470Gln

PubMed Link: 27600940

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Rubattu, Speranza S; Bozzao, Cristina C; Pennacchini, Ermelinda E; Pagannone, Erika E; Musumeci, Beatrice Maria BM; Piane, Maria M; Germani, Aldo A; Savio, Camilla C; Francia, Pietro P; Volpe, Massimo M; Autore, Camillo C; Chessa, Luciana L

Publication Date: 2016-07-30

Variant appearance in text: MYBPC3: 1409G>A; Arg470Gln

PubMed Link: 27483260

Variant Present in the following documents:

• Main text
• ijms-17-01239.pdf

View BVdb publication page

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