المؤلفون: Zolt Arany, Dominik Berliner, Valeska Abou Moulig, Melanie Ricke-Hoch, Bernd Auber, Stefan Pietzsch, Tobias J. Pfeffer, Tobias König, Johann Bauersachs, Manuel List, Maria Schaufelberger, Stella Schlothauer, Denise Hilfiker-Kleiner, Karen Sliwa

المصدر: JACC: CardioOncology
JACC. CardioOncology, Vol 1, Iss 2, Pp 196-205 (2019)

مصطلحات موضوعية: TXNRD2, thioredoxin reductase 2, lcsh:Diseases of the circulatory (Cardiovascular) system, medicine.medical_specialty, Peripartum cardiomyopathy, HCM, hypertrophic cardiomyopathy, FANCA, Fanconi anemia, complementation group, cardiotoxicity, peripartum cardiomyopathy, lcsh:RC254-282, DDR, DNA damage response, LVEF - Left ventricular ejection fraction, Internal medicine, CPS, cancer predisposition syndrome, LVEF, left ventricular ejection fraction, medicine, VUS, variants of unknown significance, cancer, genetics, DCM - Dilated cardiomyopathy, whole-exome sequencing, DCM, dilated cardiomyopathy, Cancer prevalence, Exome sequencing, HTX, heart transplantation, Original Research, Cardiotoxicity, ATM, ataxia telangiectasia mutated, RYR1, ryanodine receptor 1, business.industry, BMBF, Bundesministerium für Bildung und Forschung, Cancer, FKRP, fukutin-related protein, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, BRCA1, breast cancer 1, Oncology, lcsh:RC666-701, Heart failure, Cardiology, LVAD, left ventricular assist device, ERCC5, excision repair cross-complementing rodent repair deficiency, SLX4, structure-specific endonuclease subunit SLX4, Cardiology and Cardiovascular Medicine, business, DFG, Deutsche Forschungsgesellschaft, PPCM, peripartum cardiomyopathy, RECQL4, ATP-dependent DNA helicase Q4

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b804010f8a29cdc219dce75d91a2b610
https://pubmed.ncbi.nlm.nih.gov/34396183

المؤلفون: Marta Futema, Alison Taylor-Beadling, Maggie Williams, Steve E. Humphries

المصدر: Journal of Lipid Research, Vol 62, Iss, Pp 100139-(2021)
Journal of Lipid Research

مصطلحات موضوعية: RFLP, restriction fragment length polymorphism, DFH, definite FH, clinical utility, polygenic, LLT, lipid-lowering therapy, Familial hypercholesterolemia, CHD, coronary heart disease, PFH, possible FH, Biochemistry, ACGS, UK Association for Clinical Genomic Science, SNP score, Endocrinology, Thematic Review Series: The Science of FH, Index case, variants of unknown significance, Exome sequencing, Genetics, medicine.diagnostic_test, LDLR, LDL receptor, SSCP, single-strand conformation polymorphism, PRS, polygenic risk score, WES, whole exome sequencing, index case, WGS, whole genome sequencing, Locus (genetics), QD415-436, Biology, FH, familial hypercholesterolemia, Hyperlipoproteinemia Type II, monogenic, VUS, variants of unknown significance, medicine, Humans, Genetic Testing, Multiplex ligation-dependent probe amplification, coronary heart disease, CT, cascade testing, LDL-C, Genetic testing, PCSK9, dHPLC, denaturing HPLC, Thematic Review Series, ACMG, American College of Medical Genetics and Genomics, Single-strand conformation polymorphism, Cell Biology, MLPA, multiplex ligation-dependent probe amplification, medicine.disease, Lp(a), lipoprotein (a), NGS, next-generation sequencing, TC, total cholesterol, LDLR, next-generation sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::162a286e87f241aac3d827ed099416e6
https://doi.org/10.1016/j.jlr.2021.100139

المؤلفون: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh

المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, ARSB, arylsulfatase B, Population, India, LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Lysosomal storage disorder (LSD), Biology, MPS, mucopolysaccharidosis, medicine.disease_cause, HSCT, hematopoietic stem cell transplantation, Endocrinology, VUS, variants of unknown significance, Genetics, medicine, MPS - Mucopolysaccharidosis, education, Arylsulfatase B (ARSB), lcsh:QH301-705.5, Molecular Biology, Gene, GALNS, N-acetyl galactosamine 6-sulfatase, lcsh:R5-920, education.field_of_study, Mutation, Maroteaux–Lamy syndrome, Active site, Mucopolysaccharidosis VI, medicine.disease, Lysosomal enzyme, ERT, enzyme replacement therapy, lcsh:Biology (General), Inborn error of metabolism (IEM), Inborn error of metabolism, PCT, pharmacological chaperone therapy, HGMD, Human Gene Mutation Database, lcsh:Medicine (General), Mutations, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6
https://doi.org/10.1016/j.ymgmr.2015.06.002

المؤلفون: Pfeffer TJ; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Schlothauer S; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Pietzsch S; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Schaufelberger M; Department of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Ricke-Hoch M; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., List M; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Berliner D; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Abou Moulig V; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., König T; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Arany Z; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Sliwa K; Hatter Institute for Cardiovascular Research in Africa, University of Cape Town, Cape Town, South Africa., Bauersachs J; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Hilfiker-Kleiner D; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany.

المصدر: JACC. CardioOncology [JACC CardioOncol] 2019 Dec 17; Vol. 1 (2), pp. 196-205. Date of Electronic Publication: 2019 Dec 17 (Print Publication: 2019).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101761697 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-0873 (Electronic) Linking ISSN: 26660873 NLM ISO Abbreviation: JACC CardioOncol Subsets: PubMed not MEDLINE

المؤلفون: Mathew J; Centre for Human Genetics (CHG), Bangalore, India., Jagadeesh SM; Department of Clinical Genetics, Fetal Care Research Foundation (FCRF), Chennai, India., Bhat M; Centre for Human Genetics (CHG), Bangalore, India., Udhaya Kumar S; Centre for Human Genetics (CHG), Bangalore, India., Thiyagarajan S; Institute of Bioinformatics and Applied Biotechnology (IBAB), Bangalore, India., Srinivasan S; Centre for Human Genetics (CHG), Bangalore, India.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2015 Jul 17; Vol. 4, pp. 53-61. Date of Electronic Publication: 2015 Jul 17 (Print Publication: 2015).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE