المؤلفون: Veronica Arora, Nitika Setia, Ashwin Dalal, Maria Celestina Vanaja, Deepti Gupta, Tinku Razdan, Shubha R. Phadke, Renu Saxena, Anshu Rohtagi, Ishwar C. Verma, Ratna Dua Puri

المصدر: Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919301697; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/c585e0f01cc24b8ea61b7c8bc29accae

المؤلفون: Anjali Arora, Bobby V Khan, Vrinda Arora, Nitika Setia

المصدر: Current Medicine Research and Practice, Vol 3, Iss 2, Pp 82-85 (2013)

مصطلحات موضوعية: metabolic syndrome, asian indians, small-dense ldl, Medicine

وصف الملف: electronic resource

Relation: http://www.cmrpjournal.org/article.asp?issn=2352-0817;year=2013;volume=3;issue=2;spage=82;epage=85;aulast=Arora; https://doaj.org/toc/2352-0817; https://doaj.org/toc/2352-0825

URL الوصول: https://doaj.org/article/1fcb588d19274a64a8dd6c5b102a9f84

المؤلفون: Madhulika Kabra, Ratna Dua Puri, Ishwar C. Verma, Sheela Nampoothiri, Katta M. Girisha, Neerja Gupta, Ishpreet K. Biji, Priya S. Kishnani, Mamta N. Muranjan, Sujatha Jagadeesh, N Vinu, Jyotsna Verma, Jayarekha Raja, Ravinder Makkar, Divya C. Thomas, Nitika Setia, Meenakshi Bhat

المصدر: Neuromuscular Disorders. 31:431-441

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Cardiomyopathy, India, Late onset, Disease, Compound heterozygosity, Left ventricular hypertrophy, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Age of Onset, Child, Genetics (clinical), Retrospective Studies, Glycogen Storage Disease Type II, business.industry, Homozygote, Muscle weakness, medicine.disease, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, RNA Splice Sites, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6199f44a124c02bf605eb42732602b
https://doi.org/10.1016/j.nmd.2021.02.013

المؤلفون: Tycho R Tromp, Merel L Hartgers, G Kees Hovingh, Antonio J Vallejo-Vaz, Kausik K Ray, Handrean Soran, Tomas Freiberger, Stefano Bertolini, Mariko Harada-Shiba, Dirk J Blom, Frederick J Raal, Marina Cuchel, Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo-Vaz, Kausik K. Ray, Stefano A. Bertolini, Jing Pang, Gerald F. Watts, Susanne Greber-Platzer, Martin Mäser, Thomas M. Stulnig, Christoph F. Ebenbichler, Khalid Bin Thani, David Cassiman, Olivier S. Descamps, Daisy Rymen, Peter Witters, Raul D. Santos, Liam R. Brunham, Gordon A. Francis, Jacques Genest, Robert A. Hegele, Brooke A. Kennedy, Isabelle Ruel, Mark H. Sherman, Long Jiang, Luya Wang, Željko Reiner, Vladimir Blaha, Richard Ceska, Jana Dvorakova, Lubomir Dlouhy, Pavel Horak, Vladimir Soska, Lukas Tichy, Robin Urbanek, Helena Vaverkova, Michal Vrablik, Stanislav Zemek, Lukas Zlatohlavek, Sameh Emil, Tarek Naguib, Ashraf Reda, Sophie Béliard, Eric Bruckert, Antonio Gallo, Moses S. Elisaf, Genovefa Kolovou, Hofit Cohen, Ronen Durst, Eldad J. Dann, Avishay Elis, Osama Hussein, Eran Leitersdorf, Daniel Schurr, Nitika Setia, Ishwar C. Verma, Mohammed D. Alareedh, Mutaz Al-Khnifsawi, Ali F. Abdalsahib Al-Zamili, Sabah H. Rhadi, Foaad K. Shaghee, Marcello Arca, Maurizio Averna, Andrea Bartuli, Marco Bucci, Paola S. Buonuomo, Paolo Calabrò, Sebastiano Calandra, Manuela Casula, Alberico L. Catapano, Angelo B. Cefalù, Arrigo F.G. Cicero, Sergio D'Addato, Laura D'Erasmo, Alessia Di Costanzo, Tommaso Fasano, Marta Gazzotti, Antonina Giammanco, Gabriella Iannuzzo, Anastasia Ibba, Emanuele A. Negri, Andrea Pasta, Chiara Pavanello, Livia Pisciotta, Claudio Rabacchi, Carlo Ripoli, Tiziana Sampietro, Francesco Sbrana, Fulvio Sileo, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Maria G. Zenti, Mika Hori, Mahmoud H. Ayesh, Sami T. Azar, Fadi F. Bitar, Akl C. Fahed, Elie M. Moubarak, Georges Nemer, Hapizah M. Nawawi, Ramón Madriz, Roopa Mehta, Arjen J. Cupido, Joep C. Defesche, M. Doortje Reijman, Jeanine E. Roeters-van Lennep, Erik S.G. Stroes, Albert Wiegman, Linda Zuurbier, Khalid Al-Waili, Fouzia Sadiq, Krzysztof Chlebus, Mafalda Bourbon, Isabel M. Gaspar, Katarina S. Lalic, Marat V. Ezhov, Andrey V. Susekov, Urh Groselj, Min-Ji Charng, Weerapan Khovidhunkit, Melih Aktan, Bulent B. Altunkeser, Sinan Demircioglu, Melis Kose, Cumali Gokce, Osman Ilhan, Meral Kayikcioglu, Leyla G. Kaynar, Irfan Kuku, Erdal Kurtoglu, Harika Okutan, Osman I. Ozcebe, Zafer Pekkolay, Saim Sag, Osman Z. Salcioglu, Ahmet Temizhan, Mustafa Yenercag, Mehmet Yilmaz, Hamiyet Yilmaz Yasar, Olena Mitchenko, Alexander R.M. Lyons, Christophe A.T. Stevens, Julie A. Brothers, Lisa C. Hudgins, Christina Nguyen, Rano Alieva, Aleksandr Shek, Doan-Loi Do, Ngoc-Thanh Kim, Hong-An Le, Thanh-Tung Le, Mai-Ngoc T. Nguyen, Thanh-Huong Truong, Dirk J. Blom, Frederick J. Raal

المساهمون: VU University medical center, Tromp T.R., Hartgers M.L., Hovingh G.K., Vallejo-Vaz A.J., Ray K.K., Soran H., Freiberger T., Bertolini S., Harada-Shiba M., Blom D.J., Raal F.J., Cuchel M., Bertolini S.A., Pang J., Watts G.F., Greber-Platzer S., Maser M., Stulnig T.M., Ebenbichler C.F., Bin Thani K., Cassiman D., Descamps O.S., Rymen D., Witters P., Santos R.D., Brunham L.R., Francis G.A., Genest J., Hegele R.A., Kennedy B.A., Ruel I., Sherman M.H., Jiang L., Wang L., Reiner Z., Blaha V., Ceska R., Dvorakova J., Dlouhy L., Horak P., Soska V., Tichy L., Urbanek R., Vaverkova H., Vrablik M., Zemek S., Zlatohlavek L., Emil S., Naguib T., Reda A., Beliard S., Bruckert E., Gallo A., Elisaf M.S., Kolovou G., Cohen H., Durst R., Dann E.J., Elis A., Hussein O., Leitersdorf E., Schurr D., Setia N., Verma I.C., Alareedh M.D., Al-Khnifsawi M., Abdalsahib Al-Zamili A.F., Rhadi S.H., Shaghee F.K., Arca M., Averna M., Bartuli A., Bucci M., Buonuomo P.S., Calabro P., Calandra S., Casula M., Catapano A.L., Cefalu A.B., Cicero A.F.G., D'Addato S., D'Erasmo L., Di Costanzo A., Fasano T., Gazzotti M., Giammanco A., Iannuzzo G., Ibba A., Negri E.A., Pasta A., Pavanello C., Pisciotta L., Rabacchi C., Ripoli C., Sampietro T., Sbrana F., Sileo F., Suppressa P., Tarugi P., Trenti C., Zenti M.G., Hori M., Ayesh M.H., Azar S.T., Bitar F.F., Fahed A.C., Moubarak E.M., Nemer G., Nawawi H.M., Madriz R., Mehta R., Cupido A.J., Defesche J.C., Reijman M.D., Roeters-van Lennep J.E., Stroes E.S.G., Wiegman A., Zuurbier L., Al-Waili K., Sadiq F., Chlebus K., Bourbon M., Gaspar I.M., Lalic K.S., Ezhov M.V., Susekov A.V., Groselj U., Charng M.-J., Khovidhunkit W., Aktan M., Altunkeser B.B., Demircioglu S., Kose M., Gokce C., Ilhan O., Kayikcioglu M., Kaynar L.G., Kuku I., Kurtoglu E., Okutan H., Ozcebe O.I., Pekkolay Z., Sag S., Salcioglu O.Z., Temizhan A., Yenercag M., Yilmaz M., Yilmaz Yasar H., Mitchenko O., Lyons A.R.M., Stevens C.A.T., Brothers J.A., Hudgins L.C., Nguyen C., Alieva R., Shek A., Do D.-L., Kim N.-T., Le H.-A., Le T.-T., Nguyen M.-N.T., Truong T.-H., University of Amsterdam, University of Pennsylvania, European Atherosclerosis Society, Experimental Vascular Medicine, Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Human Genetics, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, R Tromp, Tycho, L Hartgers, Merel, Kees Hovingh, G, J Vallejo-Vaz, Antonio, K Ray, Kausik, Soran, Handrean, Freiberger, Toma, A Bertolini, Stefano, Harada-Shiba, Mariko, Pang, Jing, F Watts, Gerald, Greber-Platzer, Susanne, Mäser, Martin, M Stulnig, Thoma, F Ebenbichler, Christoph, Bin Thani, Khalid, Cassiman, David, S Descamps, Olivier, Rymen, Daisy, Witters, Peter, D Santos, Raul, R Brunham, Liam, A Francis, Gordon, Genest, Jacque, A Hegele, Robert, A Kennedy, Brooke, Ruel, Isabelle, H Sherman, Mark, Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Luka, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Luka, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, S Elisaf, Mose, Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, J Dann, Eldad, Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, C Verma, Ishwar, D Alareedh, Mohammed, Al-Khnifsawi, Mutaz, F Abdalsahib Al-Zamili, Ali, H Rhadi, Sabah, K Shaghee, Foaad, Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, S Buonuomo, Paola, Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, L Catapano, Alberico, B Cefalù, Angelo, G Cicero, Arrigo F, D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, A Negri, Emanuele, Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, G Zenti, Maria, Hori, Mika, H Ayesh, Mahmoud, T Azar, Sami, F Bitar, Fadi, C Fahed, Akl, M Moubarak, Elie, Nemer, George, M Nawawi, Hapizah, Madriz, Ramón, Mehta, Roopa, J Cupido, Arjen, C Defesche, Joep, Doortje Reijman, M, E Roeters-van Lennep, Jeanine, G Stroes, Erik S, Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, M Gaspar, Isabel, S Lalic, Katarina, V Ezhov, Marat, V Susekov, Andrey, Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, B Altunkeser, Bulent, Demircioglu, Sinan, Kose, Meli, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, G Kaynar, Leyla, Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, I Ozcebe, Osman, Pekkolay, Zafer, Sag, Saim, Z Salcioglu, Osman, Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, M Lyons, Alexander R, T Stevens, Christophe A, A Brothers, Julie, C Hudgins, Lisa, Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, T Nguyen, Mai-Ngoc, Truong, Thanh-Huong, J Blom, Dirk, J Raal, Frederick, Cuchel, Marina

المصدر: Homozygous Familial Hypercholesterolaemia International Clinical Collaborators 2022, ' Worldwide experience of homozygous familial hypercholesterolaemia : retrospective cohort study ', The Lancet, vol. 399, no. 10326, pp. 719-728 . https://doi.org/10.1016/S0140-6736(21)02001-8
The Lancet, 399(10326), 719-728. Elsevier Limited

مصطلحات موضوعية: Adult, Male, Homozygous Familial Hypercholesterolemia, Adolescent, retrospective study, CHILDREN, Doenças Cardio e Cérebro-vasculares, Cohort Studies, Young Adult, Medicine, General & Internal, General & Internal Medicine, Cardiovascular Disease, Humans, Registries, LIPOPROTEIN-APHERESIS, Child, 11 Medical and Health Sciences, Retrospective Studies, Homozygous Familial Hypercholesterolaemia International Clinical Collaborators, Science & Technology, GUIDANCE, clinical characteristic, EVOLOCUMAB, Homozygous familial hypercholesterolemia, Worldwide, Therapies, Cardiovascular disease, General Medicine, CARE, OPEN-LABEL, EFFICACY, INSIGHTS, Child, Preschool, outcome, Female, genetic, Familial Hypercholesterolaemia, Life Sciences & Biomedicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdc3b132039534b5b3b16d9271de125
https://research.vumc.nl/en/publications/f39e2a3e-cdca-435e-8d43-781bf5d3735d

المؤلفون: Raman Puri, Anjali Arora, Ratna Dua Puri, Sanghamitra Mishra, Sireesha Movva, Renu Saxena, Jitendra Pal Singh Sawhney, Samarth Kulshrestha, Ishwar C. Verma, Ishpreet K. Biji, Prahlad Balakrishnan, V. L. Ramprasad, Sanika Apte, Nitika Setia

المصدر: Journal of Clinical Lipidology. 14:35-45

مصطلحات موضوعية: Adult, Male, Proband, Apolipoprotein B, Endocrinology, Diabetes and Metabolism, India, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Genetic analysis, Hyperlipoproteinemia Type II, Genetic Heterogeneity, 03 medical and health sciences, symbols.namesake, Apolipoproteins E, 0302 clinical medicine, Asian People, Internal Medicine, Humans, Medicine, 030212 general & internal medicine, Gene, Aged, Genetics, Sanger sequencing, Nutrition and Dietetics, biology, business.industry, Genetic heterogeneity, PCSK9, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Receptors, LDL, Apolipoprotein B-100, Mutation, biology.protein, symbols, Female, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36facca45bfdc04d1315c5a747e9406c
https://doi.org/10.1016/j.jacl.2019.12.010

المؤلفون: Ishwar C. Verma, Nitika Setia, Anjali Arora, Renu Saxena

المصدر: Atherosclerosis. 255:31-36

مصطلحات موضوعية: Male, 0301 basic medicine, Heredity, Apolipoprotein B, DNA Mutational Analysis, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Compound heterozygosity, medicine.disease_cause, 0302 clinical medicine, Risk Factors, Child, Sanger sequencing, Genetics, Mutation, education.field_of_study, biology, Homozygote, Exons, Middle Aged, Pedigree, Phenotype, Child, Preschool, Apolipoprotein B-100, symbols, Female, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, Adult, Adolescent, Population, India, White People, Hyperlipoproteinemia Type II, Young Adult, 03 medical and health sciences, symbols.namesake, Asian People, medicine, Humans, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, education, PCSK9, Infant, medicine.disease, 030104 developmental biology, Receptors, LDL, biology.protein, Multiplex Polymerase Chain Reaction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200be70afe5a173897b035665fb9983a
https://doi.org/10.1016/j.atherosclerosis.2016.10.028

المؤلفون: Ratna Dua Puri, Savita Bansal, Pallav Gupta, Veronica Arora, Ishwar C. Verma, Nitika Setia, Sunita Bijarnia-Mahay, Vaibhav Tiwari

المصدر: European journal of medical genetics. 63(3)

مصطلحات موضوعية: Male, Heterozygote, Heredity, TRPP Cation Channels, Autosomal dominant polycystic kidney disease, Disease, Biology, urologic and male genital diseases, Kidney, Pregnancy, Exome Sequencing, Genetics, medicine, Humans, Gene, Genetics (clinical), Genetic testing, Ultrasonography, Fetus, medicine.diagnostic_test, PKD1, urogenital system, General Medicine, medicine.disease, Polycystic Kidney, Autosomal Dominant, Penetrance, Phenotype, female genital diseases and pregnancy complications, Pedigree, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad779156abbdc970f0f742803b004438
https://pubmed.ncbi.nlm.nih.gov/31349084

المؤلفون: J.P.S. Sawhney, Ishwar C. Verma, Nitika Setia, Renu Saxena

المصدر: Indian journal of pediatrics. 85(5)

مصطلحات موضوعية: Proband, Adult, Male, medicine.medical_specialty, India, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Coronary artery disease, Hyperlipoproteinemia Type II, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Humans, Genetic Testing, Child, Genetic testing, Apolipoproteins B, medicine.diagnostic_test, Cholesterol, business.industry, Lipid metabolism, medicine.disease, chemistry, Receptors, LDL, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), LDL receptor, Mutation, lipids (amino acids, peptides, and proteins), Female, Proprotein Convertase 9, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dbcee34d27da05ec78f1a97f1693f06
https://pubmed.ncbi.nlm.nih.gov/29594955

المؤلفون: Ishwar C. Verma, Pushpa Saviour, Meena Lall, Preeti Paliwal, Surbhi Mahajan, Anju Joshi, Nitika Setia

المصدر: Journal of Fetal Medicine. :53-59

مصطلحات موضوعية: Fetus, Pathology, medicine.medical_specialty, Amniotic fluid, medicine.diagnostic_test, business.industry, Aneuploidy, Physiology, Chromosome, Karyotype, medicine.disease, Miscarriage, Modeling and Simulation, Medicine, Clinical significance, business, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::36b51740e03e8b9434fdf325998c0f97
https://doi.org/10.1007/s40556-015-0043-1

المؤلفون: Qamar A Khan, Nitika Setia, Bobby V. Khan, Vrinda Arora, Anjali Arora

المصدر: Journal of Community Medicine & Health Education.

مصطلحات موضوعية: business.industry, Physiology, Developing country, Disease, medicine.disease, Omics, Obesity, Biotechnology, chemistry.chemical_compound, chemistry, Low-density lipoprotein, medicine, lipids (amino acids, peptides, and proteins), medicine.symptom, Metabolic syndrome, Risk factor, business, Abdominal obesity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eea4697109551ad75ca32186c17a67b6
https://doi.org/10.4172/2161-0711.1000243