المؤلفون: Eric F. Jotch, Mark S. Kindy

المصدر: Cardiogenetics, Vol 14, Iss 4, Pp 170-182 (2024)

مصطلحات موضوعية: p.(Val429Met), rs28942078, LDLR variant, familial hypercholesterolemia, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2035-8148/14/4/13; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/8981fd0a1b9f4807ab32f1e08c5f3d82

المؤلفون: Chora, J.R., Iacocca, M., Tichy, L., Wand, H., Kurtz, L.C., Zimmermann, H., Meredith, A.L., Williams, M., Humphries, S.E., Hooper, A.J., Brunham, L., Pereira, A.C., Chen, M., Wang, J., Trinder, M., Jannes, C.E., Chonis, J., Kim, S., Pesaran, T., Johnston, T., Carrie, A., Leigh, S., Hegele, R.A., Sijbrands, E., Freiberger, T., Knowles, J.W., Bourbon, M.

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Familial Hypercholesterolemia, Recommendations, LDLR Variant, Doenças Cardio e Cérebro-vasculares

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10400.18/7716

المؤلفون: Chora, J.R., Iacocca, M., Tichy, L., Wand, H., Kurtz, L.C., Zimmermann, H., Meredith, A.L., Williams, M., Humphries, S.E., Hooper, A.J., Brunham, L., Pereira, A.C., Chen, M., Wang, J., Trinder, M., Jannes, C.E., Chonis, J., Kim, S., Pesaran, T., Johnston, T., Carrie, A., Leigh, S., Hegele, R.A., Sijbrands, E., Freiberger, T., Knowles, J.W., Bourbon, M.

مصطلحات موضوعية: Familial Hypercholesterolemia, Recommendations, LDLR Variant, Doenças Cardio e Cérebro-vasculares

Relation: http://hdl.handle.net/10400.18/7716

الاتاحة: http://hdl.handle.net/10400.18/7716

المؤلفون: Angelo Minucci, Claudio Ricciardi Tenore, Elisa De Paolis, Alfredo Pontecorvi, Andrea Urbani, Maria Elisabetta Onori, Simona Moffa, Andrea Giaccari, Alessia Perrucci

المصدر: Molecular biology reports. 49(2)

مصطلحات موضوعية: Ukrainian population, Adult, Heterozygote, Apolipoprotein B, Population, Familial hypercholesterolemia, FH-Devyser Kit, Disease, Bioinformatics, Hyperlipoproteinemia Type II, Next generation sequencing, Genetics, Medicine, LDL-cholesterol, Humans, Genetic Testing, Family history, education, Frameshift Mutation, Molecular Biology, Genetic testing, education.field_of_study, medicine.diagnostic_test, biology, business.industry, PCSK9, Genetic Variation, High-Throughput Nucleotide Sequencing, Settore MED/13 - ENDOCRINOLOGIA, General Medicine, Cholesterol, LDL, medicine.disease, Pedigree, Phenotype, Receptors, LDL, LDL receptor, Mutation, biology.protein, lipids (amino acids, peptides, and proteins), Female, business, Novel LDLR variant, Ukraine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4cb73dc6a4ac87d08fcf6dc7f60945
https://pubmed.ncbi.nlm.nih.gov/34846648

المؤلفون: Moffa S., Onori M. E., De Paolis E., Ricciardi Tenore C., Perrucci A., Pontecorvi A., Giaccari A., Urbani A., Minucci A.

المساهمون: Moffa, Simona, Onori, Maria Elisabetta, De Paolis, Elisa, Ricciardi Tenore, Claudio, Perrucci, Alessia, Pontecorvi, Alfredo, Giaccari, Andrea, Urbani, Andrea, Minucci, Angelo

مصطلحات موضوعية: Familial hypercholesterolemia, FH-Devyser Kit, LDL-cholesterol, Next generation sequencing, Novel LDLR variant, Ukrainian population, Settore MED/13 - ENDOCRINOLOGIA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34846648; info:eu-repo/semantics/altIdentifier/wos/WOS:000723985800004; volume:2021; issue:NA; firstpage:N/A; lastpage:N/A; issueyear:2021; journal:MOLECULAR BIOLOGY REPORTS; http://hdl.handle.net/10807/192061; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85120354291

الاتاحة: http://hdl.handle.net/10807/192061
https://doi.org/10.1007/s11033-021-07015-3

المؤلفون: Moffa S., Mazzuccato G., de Bonis M., de Paolis E., Onori M. E., Pontecorvi A., Urbani A., Giaccari A., Capoluongo E., Minucci A.

المساهمون: Moffa, S., Mazzuccato, G., de Bonis, M., de Paolis, E., Onori, M. E., Pontecorvi, A., Urbani, A., Giaccari, A., Capoluongo, E., Minucci, A.

مصطلحات موضوعية: FH-Devyser Kit, LDL-cholesterol, Next generation sequencing, Novel LDLR variant, SmartSeq

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000537619500017; volume:56; issue:1; firstpage:122; lastpage:127; numberofpages:6; journal:ANNALI DELL'ISTITUTO SUPERIORE DI SANITÀ; http://hdl.handle.net/11588/829911; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082980209

الاتاحة: http://hdl.handle.net/11588/829911
https://doi.org/10.4415/ANN_20_01_17

المؤلفون: Moffa, Simona, Onori, Maria Elisabetta, De Paolis, Elisa, Ricciardi Tenore, Claudio, Perrucci, Alessia, Pontecorvi, Alfredo, Giaccari, Andrea, Urbani, Andrea, Minucci, Angelo, Moffa S., Onori M. E., De Paolis E., Ricciardi Tenore C., Perrucci A., Pontecorvi A. (ORCID:0000-0003-0570-6865), Giaccari A. (ORCID:0000-0002-7462-7792), Urbani A. (ORCID:0000-0001-9168-3174), Minucci A.

مصطلحات الفهرس: Familial hypercholesterolemia, FH-Devyser Kit, LDL-cholesterol, Next generation sequencing, Novel LDLR variant, Ukrainian population, Settore MED/13 - ENDOCRINOLOGIA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/192061
info:eu-repo/semantics/altIdentifier/pmid/34846648
info:eu-repo/semantics/altIdentifier/wos/WOS:000723985800004
volume:2021
issue:NA
firstpage:N/A
lastpage:N/A
issueyear:2021
journal:MOLECULAR BIOLOGY REPORTS