Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 83 Records) |
Query Trace: Cascade screening[original query] |
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Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town. Arteriosclerosis, thrombosis, and vascular biology 2020 11 41 (2): 934-943. Huijgen Roeland, Blom Dirk J, Hartgers Merel L, Chemello Kévin, Benito-Vicente Asier, Uribe Kepa B, Behardien Zorena, Blackhurst Dee M, Brice Brigitte C, Defesche Joep C, de Jong Annemiek G, Jooste Rosemary J, Solomon Gabriele A E, Wolmarans Karen H, Hovingh G Kees, Martin Cesar, Lambert Gilles, Marais A Dav |
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants. European journal of human genetics : EJHG 2020 Nov . Leitsalu Liis, Palover Marili, Sikka Timo Tõnis, Reigo Anu, Kals Mart, Pärn Kalle, Nikopensius Tiit, Esko Tõnu, Metspalu Andres, Padrik Peeter, Tõnisson Nee |
Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil. Molecular biology reports 2020 11 47 (12): 9279-9288. de Paiva Silvino Júnea Paolucci, Jannes Cinthia Elim, Tada Mauricio Teruo, Lima Isabella Ramos, Silva Iêda de Fátima Oliveira, Pereira Alexandre Costa, Gomes Karina Bra |
Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy. Frontiers in pediatrics 2021 9 9 722926. Schultze-Berndt Alina, Kühnisch Jirko, Herbst Christopher, Seidel Franziska, Al-Wakeel-Marquard Nadya, Dartsch Josephine, Theisen Simon, Knirsch Walter, Jenni Rolf, Greutmann Matthias, Oechslin Erwin, Berger Felix, Klaassen Sabi |
CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria. Hormone research in paediatrics 2021 7 94 (3-4): 124-132. Rousseau-Nepton Isabelle, Jones Glenville, Schlingmann Karlpiet, Kaufmann Martin, Zuijdwijk Caroline S, Khatchadourian Karine, Gupta Indra R, Pacaud Danièle, Pinsk Maury N, Mokashi Arati, Nour Munier A, Alexander R Todd, Rodd Celia |
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction. Frontiers in cardiovascular medicine 2021 6 8 635141. Leone Maria Pia, Palumbo Pietro, Saenen Johan, Mastroianno Sandra, Castellana Stefano, Amico Cesare, Mazza Tommaso, Potenza Domenico Rosario, Petracca Antonio, Castori Marco, Carella Massimo, Di Stolfo Giusep |
Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data. Journal of clinical medicine 2021 3 10 (4): . Sabatel-Pérez Fernando, Sánchez-Prieto Joaquín, Becerra-Muñoz Víctor Manuel, Alonso-Briales Juan Horacio, Mata Pedro, Rodríguez-Padial Lu |
[TREATMENT OF HOMOZYGOTES OF FAMILIAL HYPERCHOLESTEROLEMIA: RECOMMENDATIONS OF THE ISRAELI SOCIETY OF ATHEROSCLEROSIS]. Harefuah 2021 3 160 (3): 170-174. Cohen Hofit, Durst Ronen, Elis Avishay, Gavish Dov, Schurr Dani |
Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population. Journal of clinical lipidology 2021 2 15 (2): 366-374.e1. Sánchez Andrea, Bustos Paulina, Honorato Paula, Burgos Carlos F, Barriga Natalia, Jannes Cinthia E, Sáez Katia, Alonso Rodrigo, Asenjo Sylvia, Radojkovic Claud |
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features. Circulation. Genomic and precision medicine 2021 2 14 (2): e003097. Ghidoni Alice, Elliott Perry M, Syrris Petros, Calkins Hugh, James Cynthia A, Judge Daniel P, Murray Brittney, Barc Julien, Probst Vincent, Schott Jean Jacques, Song Jiang-Ping, Hauer Richard N W, Hoorntje Edgar T, van Tintelen J Peter, Schulze-Bahr Eric, Hamilton Robert M, Mittal Kirti, Semsarian Christopher, Behr Elijah R, Ackerman Michael J, Basso Cristina, Parati Gianfranco, Gentilini Davide, Kotta Maria-Christina, Mayosi Bongani M, Schwartz Peter J, Crotti L |
Polygenic contribution for familial hypercholesterolemia (FH). Current opinion in lipidology 2021 11 32 (6): 392-395. Medeiros Ana Margarida, Bourbon Mafal |
Pregnancy in women with Brugada syndrome: Is there an increased arrhythmia risk? A case-series report. Journal of cardiovascular electrophysiology 2021 10 33 (1): 123-127. van der Crabben Saskia N, Kowsoleea Astra I E, Clur Sally-Ann B, Wilde Arthur A |
Familial hypercholesterolemia and cardiovascular disease in older individuals. Atherosclerosis 2021 1 318 32-37. Coutinho Elaine R, Miname Marcio H, Rocha Viviane Z, Bittencourt Marcio S, Jannes Cinthia E, Tada Mauricio T, Lima Isabella R, Filho Wilson Salgado, Chacra Ana P, Pereira Alexandre C, Krieger Jose E, Santos Raul |
Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study. Lipids in health and disease 2022 7 21 (1): 56. Kjærgaard Kasper Aalbæk, Harborg Sixten, Jensen Henrik Kjærulf, Borgquist Sig |
Founder BRCA1 mutations in Nepalese population. Journal of pathology and translational medicine 2022 6 56 (4): 212-216. Mehta Anurag, Diwan Himanshi, Gupta Garima, Nathany Shrinidhi, Agnihotri Shalini, Dhanda Surend |
Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2022 5 41 (9): 1218-1227. Boen Hanne M, Loeys Bart L, Alaerts Maaike, Saenen Johan B, Goovaerts Inge, Van Laer Lut, Vorlat Anne, Vermeulen Tom, Franssen Constantijn, Pauwels Patrick, Rodrigus Inez, Heidbuchel Hein, Van Craenenbroeck Emeline |
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients. Atherosclerosis 2022 3 347 63-67. Noto Davide, Spina Rossella, Giammanco Antonina, Barbagallo Carlo M, Ganci Antonina, Scrimali Chiara, Brucato Federica, Misiano Gabriella, Ciaccio Marcello, Caldarella Rosalia, Cefalù Angelo B, Averna Mauriz |
Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk. Circulation. Genomic and precision medicine 2022 2 15 (2): e003489. Coassin Stefan, Chemello Kevin, Khantalin Ilya, Forer Lukas, Döttelmayer Patricia, Schönherr Sebastian, Grüneis Rebecca, Chong-Hong-Fong Clément, Nativel Brice, Ramin-Mangata Stéphane, Gallo Antonio, Roche Mathias, Muelegger Beatrix, Gieger Christian, Peters Annette, Zschocke Johannes, Marimoutou Catherine, Meilhac Olivier, Lamina Claudia, Kronenberg Florian, Blanchard Valentin, Lambert Gill |
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study. European journal of public health 2022 2 32 (3): 422-428. Sanin Veronika, Schmieder Raphael, Ates Sara, Schlieben Lea Dewi, Wiehler Jens, Sun Ruoyu, Decker Manuela, Sander Michaela, Holdenrieder Stefan, Kohlmayer Florian, Friedmann Anna, Mall Volker, Feiler Therese, Dreßler Arne, Strom Tim M, Prokisch Holger, Meitinger Thomas, von Scheidt Moritz, Koenig Wolfgang, Leipold Georg, Schunkert Heribert, |
Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing. International journal of molecular sciences 2022 12 23 (23): . Razman Aimi Zafira, Chua Yung-An, Mohd Kasim Noor Alicezah, Al-Khateeb Alyaa, Sheikh Abdul Kadir Siti Hamimah, Jusoh Siti Azma, Nawawi Hapizah, |
Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates. Frontiers in genetics 2022 1 12 809256. Rimbert Antoine, Daggag Hinda, Lansberg Peter, Buckley Adam, Viel Martijn, Kanninga Roan, Johansson Lennart, Dullaart Robin P F, Sinke Richard, Al Tikriti Alia, Kuivenhoven Jan Albert, Barakat Maha Tays |
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 9 e004103. Shirin Ibrahim, Jeroen van Rooij, Annemieke J M H Verkerk, Jard de Vries, Linda Zuurbier, Joep Defesche, Jorge Peter, Willemijn A M Schonck, Bahar Sedaghati-Khayat, G Kees Hovingh, André G Uitterlinden, Erik S G Stroes, Laurens F Reeska |
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study. CMAJ open 2023 8 11 (4): E754-E764. Amanda Guerin, Iulia Iatan, Isabelle Ruel, Linda Fri Ngufor, Jacques Gene |
The role of genetic testing in the prevention, diagnosis, and prognosis of sudden cardiac arrest in children. Journal of arrhythmia 2023 8 39 (4): 607-612. Miry Blich, Hodaya Oron, Wisam Darawsha, Mahmoud Suleiman, Lior Gepstein, Monther Boulos, Avraham Lorber, Asaad Kchou |
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI. European journal of human genetics : EJHG 2023 4 . Jacobs Johanna, Van Aelst Lucas, Breckpot Jeroen, Corveleyn Anniek, Kuiperi Cuno, Dupont Matthias, Heggermont Ward, De Vadder Katrien, Willems Rik, Van Cleemput Johan, Bogaert Jan G, Robyns Tom |
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. medRxiv : the preprint server for health sciences 2023 4 . Puckelwartz Megan J, Pesce Lorenzo L, Hernandez Edgar J, Webster Gregory, Dellefave-Castillo Lisa M, Russell Mark W, Geisler Sarah S, Kearns Samuel D, Etheridge Felix K, Etheridge Susan P, Monroe Tanner O, Pottinger Tess D, Kannankeril Prince J, Shoemaker M Benjamin, Fountain Darlene, Roden Dan M, MacLeod Heather, Burns Kristin M, Yandell Mark, Tristani-Firouzi Martin, George Alfred L, McNally Elizabeth |
Unravelling the genetic background of individuals with a clinical Familial Hypercholesterolemia phenotype. Journal of lipid research 2023 12 100490. Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, |
Cardiovascular disease onset in old people with severe hypercholesterolemia. Atherosclerosis 2023 1 365 9-14. Coutinho Elaine R, Miname Marcio H, Rocha Viviane Z, Bittencourt Marcio S, Jannes Cinthia E, Krieger Jose E, Pereira Alexandre C, Santos Raul |
Role of an automated screening tool for familial hypercholesterolemia in patients with premature coronary artery disease. Atherosclerosis plus 2023 1 48 1-7. Jokiniitty Antti, Eskola Markku, Saarela Tanja, Huhtala Heini, Metso Saa |
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 2024 1 16 (1): 13. Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNal |
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- Page last updated:Apr 29, 2024
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