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1
المؤلفون: Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam
المصدر: Molecular Genetics & Genomic Medicine. 10
مصطلحات موضوعية: Adult, Adolescent, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Middle Aged, Pedigree, Young Adult, Genetics, Humans, Protein Tyrosine Phosphatases, Child, Hearing Loss, Molecular Biology, Branchio-Oto-Renal Syndrome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c17a9cac0654c8707a962300ce3e01Test
https://doi.org/10.1002/mgg3.1995Test -
2
المؤلفون: Liz M. Nouel Saied, Qayum Khan, Louise A. Metherell, Nadia Farooqi, Hamed A. El-Serehy, Suzanne M. Leal, Anushree Acharya, Fazal Jalil, Yasir Ali, Isabelle Schrauwen
المصدر: Genes
Genes, Vol 12, Iss 1915, p 1915 (2021)
Genes; Volume 12; Issue 12; Pages: 1915مصطلحات موضوعية: Proband, Marfan syndrome, musculoskeletal diseases, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, left ventricular diastolic dysfunction, Adolescent, Fibrillin-1, Diastole, Cardiomyopathy, QH426-470, Article, whole exome sequencing, Marfan Syndrome, symbols.namesake, Ventricular Dysfunction, Left, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Pakistan, Genetics (clinical), Exome sequencing, Sanger sequencing, business.industry, cardiovascular diseases, dilated cardiomyopathy, Dilated cardiomyopathy, Middle Aged, medicine.disease, Pedigree, Heart failure, Mutation, symbols, Cardiology, Female, business, Cardiomyopathies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093d2306ad0bd7cc74a6f01ebc9716f8Test
http://europepmc.org/articles/PMC8700962Test -
3
المؤلفون: Alexandra Janda, Stephanie E. Wallace, Claudio F. Russo, Dongchuan Guo, Guillaume Jondeau, Dianna M. Milewicz, Ellen M. Hostetler, Catherine Boileau, Nadine Hanna, Roberto Colombo, Tami Johnston, Bo Carlberg, Kwanghyuk Lee, Christian Antolik, Ellen S. Regalado, Suzanne M. Leal, Limin Gong, Richard J. Kulmacz, Matias Hannuksela, Pauline Arnaud
المصدر: Genetics in Medicine. 21:144-151
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, MYLK, Myosin light-chain kinase, Aortic Diseases, macromolecular substances, 030105 genetics & heredity, Biology, thoracic aortic surgery, Aortic disease, 03 medical and health sciences, Aneurysm, Dissecting, Pregnancy, Myosin, medicine, Humans, Missense mutation, Genetic Testing, hereditary thoracic aortic disease, Myosin-Light-Chain Kinase, Settore BIO/10 - BIOCHIMICA, Aorta, Genetics (clinical), Aged, Genetic testing, Genetics, acute aortic dissection, medicine.diagnostic_test, Kinase, Calcium-Binding Proteins, High-Throughput Nucleotide Sequencing, food and beverages, Heterozygote advantage, Middle Aged, Aneurysm, Pedigree, 3. Good health, 030104 developmental biology, Female, myosin light-chain kinase, Dissecting
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61c490cd42b72834e9fd8f7364652c6Test
https://doi.org/10.1038/s41436-018-0038-0Test -
4
المؤلفون: Charles M. Connolly, Deborah A. Nickerson, Jian Gong, Sébastien Küry, Barbara Pardini, Brent W. Zanke, Andrea Gsur, Jochen Hampe, Coral Arnau-Collell, M. Henar Alonso, Elio Riboli, Annika Lindblom, Ulrike Peters, Gad Rennert, Tabitha A. Harrison, Lori C. Sakoda, Caroline McNeil, Flavio Lejbkowicz, Hyun Min Kang, David J. Hunter, Martha L. Slattery, Miguel Rodríguez-Barranco, Christina Bamia, Satu Männistö, Timothy J. Key, W. James Gauderman, Gonçalo R. Abecasis, Sanford D. Markowitz, Laurence N. Kolonel, Mark A. Jenkins, Yi Lin, Robin Myte, Hedy S. Rennert, Neil Murphy, Antonia Trichopoulou, Christopher I. Li, Ross L. Prentice, Sai Chen, Stephanie J. Weinstein, Kristin E. Anderson, Hua Ling, Mitul Shah, Philipp Hofer, Wen Yi Huang, Sergi Castellví-Bel, Susanna C. Larsson, Maria Dolores Chirlaque, Wei Zheng, Stephanie L. Schmit, Cecelia A. Laurie, Soo-Chin Lee, David Forman, Andrea N. Burnett-Hartman, Giovanna Masala, Sarah C. Nelson, Michael O. Woods, Charles Kooperberg, Qing Zhang, Sonja I. Berndt, Christopher S. Carlson, Katja Butterbach, Hyeong Rok Kim, Rebecca D. Jackson, David Van Den Berg, Michael C. Bassik, Amanda J. Cross, Sushma S. Thomas, Clemens Schafmayer, Anna H. Wu, Douglas F. Easton, Robert W. Haile, Ludmila Vodickova, Graham G. Giles, Yu Ru Su, Jenny Chang-Claude, Lorena Moreno, Peter C. Scacheri, Stefanie Brezina, Min-Ho Shin, Steven Gallinger, Bethany Van Guelpen, Daniel D. Buchanan, Roger L. Milne, Stephen J. Chanock, Tin Louie, Tameka Shelford, Emily White, Kala Visvanathan, Loic Le Marchand, Veronika Vymetalkova, Roxann G. Ingersoll, Temitope O. Keku, Stephanie A. Bien, Fredrick R. Schumacher, Wan-Ling Hsu, Amanda E. Toland, John S. Grove, Noralane M. Lindor, Faye Elliott, Leon Raskin, Heather Hampel, Joshua D. Smith, Vicente Martín, David V. Conti, Sjoerd G. Elias, Henk J. van Kranen, Manish Gala, Daniela Seminara, Syed H.E. Zaidi, Suzanne M. Leal, Tilman Kühn, Korbinian Weigl, Marc J. Gunter, Cornelia M. Ulrich, Peyton Greenside, Victor Moreno, John D. Potter, Michael Hoffmeister, Eric J. Jacobs, Catherine M. Tangen, Jihyoun Jeon, Fränzel J.B. Van Duijnhoven, Andrew T. Chan, Stephen B. Gruber, John A. Baron, Alicja Wolk, Edith J. M. Feskens, Demetrius Albanes, Amit Joshi, Bette J. Caan, Polly A. Newcomb, Stéphane Bézieau, Elizabeth M. Gillanders, Anshul Kundaje, Elizabeth A. Platz, Michael Wainberg, Sun-Seog Kweon, C. Roland Wolf, Gemma Ibáñez-Sanz, Shuji Ogino, Emiko Kobayashi, Richard B. Hayes, Patrick S. Parfrey, Katarina Cuk, Stephen N. Thibodeau, Kenneth Offit, David Duggan, Sophia Harlid, Pavel Vodicka, Juergen Boehm, Christa Stegmaier, Jeroen R. Huyghe, Joseph Vijai, Sang-Hee Cho, Elizabeth W. Pugh, Rachel Pearlman, Alessio Naccarati, Marilena Melas, Graham Casey, Jane Romm, Stephan Buch, Phyllis J. Goodman, Albert de la Chapelle, John L. Hopper, Zsofia K. Stadler, Corinne E. Joshu, Liesel M. FitzGerald, Wolfgang Lieb, Aung Ko Win, Keith R. Curtis, Hermann Brenner, Christopher K. Edlund, Li Hsu, Conghui Qu, Peter T. Campbell, Robert E. Schoen, Heiner Boeing, D. Timothy Bishop, Kimberly F. Doheny, Sabina Sieri, Barbara L. Banbury, Mathieu Lemire, Jane C. Figueiredo, Gregory Idos, Katerina Shulman, Thomas J. Hudson, Melissa C. Southey, Duncan C. Thomas, Paul D.P. Pharoah, Mila Pinchev, Vittorio Perduca, Rocky Fischer, Volker Arndt, William M. Grady, Nasa Sinnott-Armstrong, N. Charlotte Onland-Moret, David M. Levine, Li Li, Dallas R. English
المساهمون: Health Research Board - Ireland, Department of Medical Genetics, HMNC Brain Health, Case Western Reserve University [Cleveland], National Cancer Institute, NIH, Division of Clinical Epidemiology and Aging Research, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), WHO Collaborating Center for Food and Nutrition Policies, Department of Hygiene, Epidemiology and Medical Statistics, University of Athens Medical School, National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Service de Génétique, Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke, Division of Cancer Epidemiology, Cancer Genome Project, The Wellcome Trust Sanger Institute [Cambridge], Division of Signaling Biology, Ontario Cancer Institute, Consorcio de Investigación Biomédica en Red especializado en Epidemiología y Salud Pública (CIBERESP), Los Centros de Investigación Biomédica en Red (CIBER), National Institute of Standards and Technology [Gaithersburg] (NIST), Ohio State University [Columbus] (OSU), Centre for Cancer Genetic Epidemiology, University of Cambridge [UK] (CAM), Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Epidemiology Centre, Cancer Council Victoria, Division of Human Nutrition, Wageningen University and Research [Wageningen] (WUR), Division of Public Health Sciences, Fred Hutchinson Cancer Research Center [Seattle] (FHCRC), Northern and Yorkshire Cancer Registry and Information Service, Familial Gastrointestinal Cancer Registry, Mount Sinai Hospital [Toronto, Canada] (MSH), University of Melbourne, Nutrition and Metabolism Section, International Agency for Cancer Research (IACR), Department of Internal Medicine I, University Hospital Schleswig-Holstein, Campus Kiel, London School of Hygiene and Tropical Medicine (LSHTM), Fraunhofer Institute for Manufacturing Engineering and Automation (Fraunhofer IPA), Fraunhofer (Fraunhofer-Gesellschaft), Centre for Molecular , Environmental, Genetic and Analytic (MEGA) Epidemiology, University of Melbourne-Centre for Molecular, Melbourne School of Population Health, Department of Mathematics, University of Warwick, Warwick Mathematics Institute (WMI), University of Warwick [Coventry]-University of Warwick [Coventry], Department of Statistics, Penn State University, University of Pennsylvania [Philadelphia], Tata Memorial Centre, Cancer Epidemiology Unit, University of Oxford [Oxford], Thermo Fisher Scientific, Thermo Fisher Scientific Inc., Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, National University Health System, Department of Community Medicine and Epidemiology, CHS National Cancer Control Center, Ontario Institute for Cancer Research [Canada] (OICR), Ontario Institute for Cancer Research, Laboratoire de Génie Electrique de Grenoble (G2ELab), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Chronic Disease Epidemiology and Prevention Unit, National Institute for Health and Welfare [Helsinki], Dell-EMC, Molecular and Nutritional Epidemiology Unit (ISPO), Cancer Research and Prevention Institute, Clinical Genetics Service, Memorial Sloane Kettering Cancer Center [New York], Department of Pathology, Brigham and Women's Hospital [Boston], University Medical Center [Utrecht], Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145), Université Paris Descartes - Paris 5 (UPD5)-Institut National des Sciences Mathématiques et de leurs Interactions (INSMI)-Centre National de la Recherche Scientifique (CNRS), Department of Oncology, Department of Epidemiology and Biostatistics, Imperial College London, Department of Visceral and Thoracic Surgery [Kiel, Germany], University Hospital Schleswig-Holstein [Kiel, Germany], Nutritional Epidemiology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, entre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, Department of Laboratory Medicine and Department of Pathology, Mayo Clinic College of Medicine, Department of Molecular Virology, Immunology and Medical Genetics [Colombus], Ohio State University [Columbus] (OSU)-College of Medicine and Public Health [Colombus], Department of Hygiene, Epidemiology and Medical Statistics, University of Athens Medical School [Athens], Department of Medical Biosciences and Pathology, Umeå University, Institute of Experimental Medicine, Czech Academy of Sciences [Prague] (CAS), Dundee Technopole, CXR Biosciences Ltd, Karolinska Institutet [Stockholm], CINTRA / SEEE Nanyang Technological University, Nanyang Technological University [Singapour], Center for Astrophysical Sciences [Baltimore], Johns Hopkins University (JHU), Computer Science and Artificial Intelligence Laboratory (CSAIL), Massachusetts Institute of Technology (MIT), Department of Preventive Medicine, University of Southern California (USC), Biomedical Research Centre Network for Rare Diseases, CIBER de Enfermedades Raras (CIBERER), Medstar Research Institute, Department of Genome Sciences [Seattle] (GS), University of Washington [Seattle], Department of Internal Medicine, Epidemiology, Human Genetics, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Wageningen University and Research Centre [Wageningen] (WUR), Mount Sinai Hospital (MSH), Fraunhofer Institute for Manufacturing Engineering and Automation [Stuttgart] (IPA), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut Polytechnique de Grenoble - Grenoble Institute of Technology-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Czech Academy of Sciences [Prague] (ASCR), Huyghe, Jeroen R [0000-0001-6027-9806], Harrison, Tabitha A [0000-0002-4173-7530], Chen, Sai [0000-0003-3106-5643], Schmit, Stephanie L [0000-0001-5931-1194], Jeon, Jihyoun [0000-0001-7003-3412], Schumacher, Fredrick R [0000-0002-3073-7463], Nelson, Sarah C [0000-0002-2109-6465], Sinnott-Armstrong, Nasa A [0000-0003-4490-0601], Alonso, M Henar [0000-0003-0285-5451], Arndt, Volker [0000-0001-9320-8684], Bézieau, Stéphane [0000-0003-0095-1319], Bishop, D Timothy [0000-0002-8752-8785], Brezina, Stefanie [0000-0001-5238-6900], Buchanan, Daniel D [0000-0003-2225-6675], Chanock, Stephen J [0000-0002-2324-3393], de la Chapelle, Albert [0000-0001-9345-9248], Easton, Douglas F [0000-0003-2444-3247], Hampe, Jochen [0000-0002-2421-6127], Hayes, Richard B [0000-0002-0918-661X], Hofer, Philipp [0000-0003-2550-6019], Huang, Wen-Yi [0000-0002-4440-3368], Hudson, Thomas J [0000-0002-1376-4849], Jacobs, Eric J [0000-0002-8458-7659], Jenkins, Mark A [0000-0002-8964-6160], Joshi, Amit D [0000-0001-7581-6934], Küry, Sébastien [0000-0001-5497-0465], Larsson, Susanna C [0000-0003-0118-0341], Laurie, Cecelia A [0000-0001-6569-2501], Martín, Vicente [0000-0003-0552-2804], Masala, Giovanna [0000-0002-5758-9069], Milne, Roger L [0000-0001-5764-7268], Naccarati, Alessio [0000-0001-5774-0905], Newcomb, Polly A [0000-0001-8786-0043], Pardini, Barbara [0000-0001-9571-4257], Perduca, Vittorio [0000-0003-0339-0473], Pharoah, Paul DP [0000-0001-8494-732X], Raskin, Leon [0000-0003-1195-7214], Rennert, Gad [0000-0002-8512-068X], Shin, Min-Ho [0000-0002-2217-5624], Toland, Amanda E [0000-0002-0271-1792], Vijai, Joseph [0000-0002-7933-151X], Weigl, Korbinian [0000-0003-4453-2036], Win, Aung Ko [0000-0002-2794-5261], Wolk, Alicja [0000-0001-7387-6845], Zheng, Wei [0000-0003-1226-070X], Bassik, Michael C [0000-0001-5185-8427], Moreno, Victor [0000-0002-2818-5487], Peters, Ulrike [0000-0001-5666-9318], Apollo - University of Cambridge Repository
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Nature genetics
Nature Genetics, 51, 76-87
Nature Genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (1), pp.76-87. ⟨10.1038/s41588-018-0286-6⟩
Nature Genetics, 51(1), 76. Nature Publishing Group
Nature Genetics 51 (2018)مصطلحات موضوعية: Male, Nutrition and Disease, Colorectal cancer, IDENTIFIES 6, Genome-wide association study, 0302 clinical medicine, Risk Factors, Voeding en Ziekte, Genotype, ComputingMilieux_MISCELLANEOUS, Avaluació del risc per la salut, Genetics & Heredity, Genetics, 0303 health sciences, COLON-CANCER, 11 Medical And Health Sciences, Middle Aged, 3. Good health, Medical genetics, Female, RNA, Long Noncoding, Colorectal Neoplasms, Life Sciences & Biomedicine, Signal Transduction, EXPRESSION, medicine.medical_specialty, SUSCEPTIBILITY LOCI, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, Polymorphism, Single Nucleotide, Article, Health risk assessment, 03 medical and health sciences, QUALITY-CONTROL, Càncer colorectal, Journal Article, medicine, Life Science, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, METAANALYSIS, VLAG, Aged, 030304 developmental biology, Global Nutrition, [SDV.GEN]Life Sciences [q-bio]/Genetics, Wereldvoeding, Science & Technology, ORGAN SIZE, MUTATIONS, Haplotype, Case-control study, 06 Biological Sciences, medicine.disease, Genetic architecture, Case-Control Studies, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Human genome, LYSOPHOSPHATIDIC ACID, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study
وصف الملف: application/pdf; application/octet-stream; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2446d3d49b6ebc7aeb6ee8125c93daTest
https://doi.org/10.1038/s41588-018-0286-6Test -
5
المؤلفون: Edmond, Wonkam-Tingang, Isabelle, Schrauwen, Kevin K, Esoh, Thashi, Bharadwaj, Liz M, Nouel-Saied, Anushree, Acharya, Abdul, Nasir, Samuel M, Adadey, Shaheen, Mowla, Suzanne M, Leal, Ambroise, Wonkam
المصدر: Genes
مصطلحات موضوعية: Adult, Adolescent, Base Sequence, Hearing Loss, Sensorineural, Microfilament Proteins, Mutation, Missense, CLIC5, Sequence Analysis, DNA, Middle Aged, Article, Young Adult, Chloride Channels, Child, Preschool, Exome Sequencing, Africa, Humans, Protein Isoforms, Exome, Family, Female, Genetic Predisposition to Disease, Cameroon, Child, Alleles, non-syndromic hearing impairment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ffa91c14c03bd8d5fe64ca77f5373e26Test
https://pubmed.ncbi.nlm.nih.gov/33114113Test -
6
المؤلفون: Rachel Ann P Santos, Melquiadesa Pedro, Talitha Karisse L. Yarza, Charlotte M. Chiong, Janak A. Patel, Christopher Greenlee, Zubair M. Ahmed, Rose Anne Q Rosanes, Rehan S. Shaikh, Melissa A. Scholes, Matthew J. Steritz, Norman R. Friedman, Todd Wine, Abner L. Chan, Ma. Leah C. Tantoco, Patricia J. Yoon, Tori Bootpetch Roberts, Erasmo Gonzalo D V Llanes, Jeremy D. Prager, Anushree Acharya, Eric D. Larson, Karen L. Mohlke, Saima Riazuddin, Maria Rina T. Reyes-Quintos, Jose Pedrito M. Magno, Generoso T. Abes, Tasnee Chonmaitree, Petri S. Mattila, Teresa Luisa G. Cruz, Lena Hafrén, Elisabet Einarsdottir, Ayesha Yousaf, Catherine B. Anderson, Juha Kere, Jonathan Cardwell, Amanda G. Ruiz, Michael J. Bamshad, Herman A. Jenkins, Ivana V. Yang, Deborah A. Nickerson, Samuel P. Gubbels, Sven-Olrik Streubel, Suzanne M. Leal, Katerina Kechris, David A. Schwartz, Sheryl Mae Lagrana-Villagracia, Regie Lyn P. Santos-Cortez, Aileen Trinidad R Santos, Nanette R. Lee, Kenny H. Chan, Dylan Ray, Eva Maria Cutiongco-de la Paz, Stephen P. Cass
المساهمون: University Management, Research Programme of Molecular Medicine, Päivi Marjaana Saavalainen / Principal Investigator, Research Programs Unit, University of Helsinki, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Research Programme for Molecular Neurology, HUS Head and Neck Center, Korva-, nenä- ja kurkkutautien klinikka, Department of Ophthalmology and Otorhinolaryngology, Clinicum
المصدر: Hum Mutat
مصطلحات موضوعية: Male, Proband, DOWN-REGULATION, A2ML1, Philippines, SUSCEPTIBILITY, Gene duplication, Pakistan, Child, Exome, Finland, Genetics (clinical), Exome sequencing, GENE-EXPRESSION, Genetics, Sanger sequencing, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, 1184 Genetics, developmental biology, physiology, EPITHELIAL-CELLS, Middle Aged, Pedigree, 3. Good health, READ ALIGNMENT, TRANSCRIPTOME SIGNATURE, Child, Preschool, symbols, Female, medicine.symptom, Signal Transduction, Adult, YOUNG-CHILDREN, Adolescent, Population, RNA-sequencing, KAPPA-B, Biology, INFLUENZA-A VIRUS, Article, Young Adult, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, alpha-Macroglobulins, education, 030304 developmental biology, alpha-2-macroglobulin-like-1, Sequence Analysis, RNA, Gene Expression Profiling, HEARING-LOSS, Infant, otitis media, Sequence Analysis, DNA, United States, Otitis, Gene Expression Regulation, Mutation, exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffa230c38770ef2c2a612a2e6653a5b4Test
http://hdl.handle.net/10138/312957Test -
7
المؤلفون: Tiia Reimand, Kirsty McWalter, Eleanor G. Seaby, G. Bradley Schaefer, Marwan Shinawi, Muhammad Arif Nadeem Saqib, Aida Telegrafi, Ana Petracovici, Sander Pajusalu, Jill A. Fahrner, David B. Beck, Chongsheng He, Hannah W. Moore, Suzanne M. Leal, Raymond J. Louie, Siddharth Banka, Renee Bend, Regie Lyn P. Santos-Cortez, Roberto Bonasio, Boris Keren, Marie Christine Nougues, Eloise J. Prijoles, Muhammad Ansar, Katrin Õunap, Roger E. Stevenson, Julien Buratti, Sofia Douzgou, Cyril Mignot, Sivagamy Sithambaram, Trudie Cottrell, Dustin Baldridge, Muhammad Zahid
المصدر: Am J Hum Genet
Beck, D B, Petracovici, A, He, C, Moore, H W, Louie, R J, Ansar, M, Douzgou, S, Sithambaram, S, Cottrell, T, Santos-Cortez, R L P, Prijoles, E J, Bend, R, Keren, B, Mignot, C, Nougues, M-C, Õunap, K, Reimand, T, Pajusalu, S, Saqib, M A N, Buratti, J, Seaby, E G, McWalter, K, Telegrafi, A, Baldridge, D, Shinawi, M, Leal, S M, Schaefer, G B, Stevenson, R E, Banka, S, Bonasio, R & Fahrner, J A 2020, ' Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery : TET3 Deficiency ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.12.007Testمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Protein Conformation, Developmental Disabilities, Embryonic Development, Sequence Homology, Frameshift mutation, Dioxygenases, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Report, Genetics, Humans, Epigenetics, Amino Acid Sequence, Autistic Disorder, Child, Genetics (clinical), Growth Disorders, 5-Hydroxymethylcytosine, Movement Disorders, biology, Gene Expression Regulation, Developmental, Infant, Middle Aged, Pedigree, DNA Demethylation, 5-Methylcytosine, 030104 developmental biology, Histone, DNA demethylation, chemistry, Child, Preschool, DNA methylation, biology.protein, Mendelian inheritance, symbols, Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8a0d323dc150b74b9bd22860ebfb32Test
https://pubmed.ncbi.nlm.nih.gov/31928709Test -
8Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy
المؤلفون: Christhian Gomez-Castillo, Diana M Cornejo-Sanchez, Dagoberto Nicanor Cabrera-Hemer, Rhys H. Thomas, Suzanne M. Leal, Jaime Carrizosa-Moog, Nicolas Pineda-Trujillo, William Cornejo-Ochoa, Rodrigo Andrés Solarte-Mila
المصدر: Journal of child neurology. 34(9)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Somnambulism, Sleep Paralysis, Colombia, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Prevalence, Humans, In patient, Family, Genetic Predisposition to Disease, 030212 general & internal medicine, Child, Aged, Seizure frequency, business.industry, Parasomnia, Middle Aged, medicine.disease, Sleep deprivation, Sleepwalking, Child, Preschool, Pediatrics, Perinatology and Child Health, Epilepsy, Generalized, Female, Neurology (clinical), medicine.symptom, business, Sleep paralysis, Genetic generalized epilepsy, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fb584e0caf4b2617249a3414a3f8a60Test
https://pubmed.ncbi.nlm.nih.gov/31012364Test -
9
المؤلفون: Limin Gong, Siddharth K. Prakash, Lawrence Yang Zhu, Regie Lyn P. Santos-Cortez, Shao Qing Kuang, Corey L. Reynolds, Ellen S. Regalado, Eric C. Swindell, Xue Yan Duan, Suzanne M. Leal, Deborah A. Nickerson, Jay Shendure, Guillaume Jondeau, Michael J. Bamshad, Catherine Boileau, Callie S. Kwartler, Milan Jamrich, Andrew M. Peters, Mark W. Majesky, Olga Medina-Martinez, Dianna M. Milewicz, Dongchuan Guo, Xiu-Rong Dong
المصدر: Journal of Clinical Investigation. 126:948-961
مصطلحات موضوعية: Adult, Cyclin-Dependent Kinase Inhibitor p21, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Myocytes, Smooth Muscle, Mutation, Missense, Gene Expression, Apoptosis, Vascular Remodeling, Biology, Muscle, Smooth, Vascular, 03 medical and health sciences, Aortic aneurysm, Aneurysm, medicine.artery, Ascending aorta, medicine, Animals, Humans, Myocyte, Thoracic aorta, Genetic Predisposition to Disease, Aortic rupture, Aorta, Cells, Cultured, Genetic Association Studies, Zebrafish, Mice, Knockout, Aortic Aneurysm, Thoracic, Forkhead Transcription Factors, General Medicine, Anatomy, Middle Aged, medicine.disease, Pedigree, Mice, Inbred C57BL, Aortic Dissection, 030104 developmental biology, cardiovascular system, Aortic pressure, Female, Tumor Suppressor Protein p53, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d448f8339ae3569f0da7c02ad30cbc66Test
https://doi.org/10.1172/jci83778Test -
10
المؤلفون: Wasim Ahmed, Michael Hoa, Thomas B. Friedman, Carmen C. Brewer, Steven E. Boyden, Suzanne M. Leal, Atteeq U. Rehman, Isabelle Schrauwen, Sheikh Riazuddin, Alessandra Brofferio, Akhtar A. Bandesha, Asma A. Khan, Risa Tona, Rabia Faridi, Rafal Olszewski, Muhammad Zaman Khan Assir
المصدر: Human mutation. 40(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Adolescent, Heart Ventricles, Romano-Ward Syndrome, Nonsense mutation, Mutation, Missense, 030204 cardiovascular system & hematology, Biology, Deafness, QT interval, Sudden death, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Genetics, medicine, Missense mutation, Humans, Nonsyndromic deafness, Genetics (clinical), Homozygote, Middle Aged, medicine.disease, Null allele, Romano–Ward syndrome, Pedigree, Jervell and Lange-Nielsen syndrome, Long QT Syndrome, 030104 developmental biology, Phenotype, Codon, Nonsense, Potassium Channels, Voltage-Gated, cardiovascular system, Jervell-Lange Nielsen Syndrome, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee7e570f1fb2dad7dad530800f958465Test
https://pubmed.ncbi.nlm.nih.gov/30461122Test