Results 1 to 10 of about 6,156,811 (313)

A global reference for human genetic variation

Nature, 2015
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations.
D Kalra, Jakob Berg Jespersen, Stephen Schaffner   +2 more
exaly   +2 more sources

A Rare Case of Ectrodactyly Ectodermal Dysplasia and Cleft Lip Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2022
A 23-year-old female patient visited the Oral Medicine and Radiology Department with the complaint of irregularly placed upper and lower front teeth since childhood.
Kshma Rao, Roopashri R Kashyap, Raghavendra Kini, Prasanna Kumar Rao, Gowri P Bhandarkar, Devika Shetty   +5 more
doaj   +1 more source

Association of angiotensin-converting enzyme gene variations with coronary artery disease in the Iranian population [PDF]

ARYA Atherosclerosis, 2023
Background: The purpose of this study was to identify the angiotensin-converting enzyme (ACE) gene (I/D) variations in CAD patients and healthy controls in an Iranian population (West Azerbaijan province of Iran).Methods: This cross-sectional study ...
Ayda Ghaffarzadeh, Mohadeseh Nemati, Mahsa Hassan-Nejhad, Kamal Khadem-Vatani, Sahar Baghal-Sadriforoush, morteza bagheri   +5 more
doaj   +1 more source

Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience

Frontiers in Pediatrics, 2023
IntroductionHereditary pulmonary arterial hypertension (HPAH) is a rare yet serious type of pulmonary arterial hypertension (PAH). The burden in the pediatric population remains high yet underreported.
Maki Ishizuka, Wenxin Zou, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D. Coleman, Dolores H. Lopez-Terrada, Dolores H. Lopez-Terrada, Daniel J. Penny, Yuxin Fan, Yuxin Fan, Nidhy P. Varghese   +11 more
doaj   +1 more source

FinnGen provides genetic insights from a well-phenotyped isolated population

Nature, 2023
Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common
M. Kurki, J. Karjalainen, P. Palta, Timo P. Sipilä, K. Kristiansson, K. Donner, M. Reeve, H. Laivuori, M. Aavikko, M. Kaunisto, A. Loukola, E. Lahtela, Hannele Mattsson, P. Laiho, Pietro della Briotta Parolo, Arto A Lehisto, M. Kanai, N. Mars, Joel T. Rämö, T. Kiiskinen, H. Heyne, K. Veerapen, S. Rüeger, S. Lemmelä, Wei Zhou, S. Ruotsalainen, K. Pärn, T. Hiekkalinna, Sami Koskelainen, T. Paajanen, V. Llorens, Javier Gracia-Tabuenca, H. Siirtola, Kadri Reis, A. Elnahas, Benjamin B. Sun, Christopher N. Foley, K. Aalto-Setälä, K. Alasoo, Mikko Arvas, K. Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, O. Carpén, Chia-Yen Chen, O. A. Dada, Zhihao Ding, M. Ehm, K. Eklund, M. Färkkilä, H. Finucane, A. Ganna, A. Ghazal, R. Graham, Eric M. Green, A. Hakanen, Marco Hautalahti, Å. Hedman, M. Hiltunen, R. Hinttala, I. Hovatta, Xinli Hu, A. Huertas-Vazquez, L. Huilaja, J. Hunkapiller, H. Jacob, J. Jensen, H. Joensuu, Sally John, V. Julkunen, M. Jung, J. Junttila, K. Kaarniranta, M. Kähönen, Risto Kajanne, Lila Kallio, R. Kälviäinen, J. Kaprio, N. Kerimov, J. Kettunen, Elina Kilpeläinen, T. Kilpi, Katherine W. Klinger, V. Kosma, T. Kuopio, Venla Kurra, T. Laisk, J. Laukkanen, Nathan Lawless, A. Liu, S. Longerich, R. Mägi, J. Mäkelä, Antti A. Mäkitie, A. Malarstig, A. Mannermaa, J. Maranville, A. Matakidou, T. Meretoja, S. Mozaffari, Mari E. K. Niemi, Mari E. K. Niemi, T. Niiranen, C. J. O 'donnell, M. Obeidat, G. Okafo, H. Ollila, A. Palomäki, T. Palotie, J. Partanen, D. Paul, M. Pelkonen, R. Pendergrass, S. Petrovski, A. Pitkäranta, A. Platt, D. Pulford, E. Punkka, P. Pussinen, Neha S. Raghavan, F. Rahimov, D. Rajpal, N. Renaud, B. Riley-Gillis, R. Rodosthenous, E. Saarentaus, A. Salminen, Eveliina Salminen, V. Salomaa, J. Schleutker, R. Serpi, Huei-yi Shen, R. Siegel, K. Silander, S. Siltanen, S. Soini, H. Soininen, J. Sul, I. Tachmazidou, K. Tasanen, P. Tienari, S. Toppila-Salmi, T. Tukiainen, T. Tuomi, J. Turunen, J. Ulirsch, F. Vaura, P. Virolainen, J. Waring, D. Waterworth, Robert Yang, M. Nelis, A. Reigo, A. Metspalu, L. Milani, T. Esko, Caroline Fox, A. Havulinna, M. Perola, S. Ripatti, A. Jalanko, Tarja Laitinen, T. Mäkelä, R. Plenge, M. McCarthy, H. Runz, M. Daly, A. Palotie   +167 more
semanticscholar   +1 more source

Genome‐wide association and replication studies for handedness in a Korean community‐based cohort

Brain and Behavior, 2023
Introduction Handedness is a conspicuous characteristic in human behavior, with a worldwide proportion of approximately 90% of people preferring to use the right hand for many tasks.
Youhyun Song, Dasom Lee, Ja‐Eun Choi, Ji Won Lee, Kyung‐Won Hong   +4 more
doaj   +1 more source

Genetic aspects of dental caries

Frontiers in Dental Medicine, 2022
Dental caries is a common chronic disease affecting humans in all age groups. Various factors can affect the formation of caries including demineralization and remineralization processes with oral flora; dietary and oral hygiene habits; salivary ...
Dilsah Cogulu, Ceren Saglam
doaj   +1 more source

A review on genetic algorithm: past, present, and future

Multimedia tools and applications, 2020
In this paper, the analysis of recent advances in genetic algorithms is discussed. The genetic algorithms of great interest in research community are selected for analysis.
Sourabh Katoch, S. Chauhan, Vijay Kumar
semanticscholar   +1 more source

Apolipoprotein E gene polymorphisms as risk factors for carotid atherosclerosis [PDF]

Vojnosanitetski Pregled, 2014
Background/Aim. Atherosclerosis is still the leading cause of death in Western world. Development of atherosclerotic plaque involves accumulation of inflammatory cells, lipids, smooth muscle cells and extracellular matrix proteins in the intima ...
Zurnić Irena, Đurić Tamara, Končar Igor, Stanković Aleksandra, Dinčić Dragan, Živković Maja   +5 more
doaj   +1 more source

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Nature Genetics, 2022
Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes.
C. Bellenguez, Fahri Küçükali, I. Jansen, L. Kleineidam, S. Moreno-Grau, N. Amin, A. Naj, Rafael Campos-Martin, B. Grenier‐Boley, V. Andrade, P. Holmans, A. Boland, V. Damotte, S. J. van der Lee, M. R. Costa, T. Kuulasmaa, Qiong Yang, I. de Rojas, J. Bis, A. Yaqub, I. Prokic, J. Chapuis, Shahzad Ahmad, V. Giedraitis, D. Aarsland, P. García-González, C. Abdelnour, E. Alarcón‐Martín, D. Alcolea, M. Alegret, I. Álvarez, V. Álvarez, N. Armstrong, A. Tsolaki, C. Antunez, I. Appollonio, M. Arcaro, S. Archetti, A. Pastor, B. Arosio, L. Athanasiu, H. Bailly, N. Banaj, M. Baquero, S. Barral, A. Beiser, A. Pastor, J. Below, Penelope H. Benchek, L. Benussi, C. Berr, C. Besse, Valentina Bessi, G. Binetti, Alessandra Bizarro, R. Blesa, M. Boada, E. Boerwinkle, B. Borroni, S. Boschi, P. Bossù, G. Bråthen, J. Bressler, Catherine Bresner, H. Brodaty, K. Brookes, L. Brusco, D. Buiza‐Rueda, K. Bûrger, V. Burholt, W. Bush, M. Calero, L. Cantwell, G. Chêne, J. Chung, M. Cuccaro, Á. Carracedo, R. Cecchetti, Laura Cervera-Carles, C. Charbonnier, Hung-Hsin Chen, C. Chillotti, Simona Ciccone, J. Claassen, C. Clark, E. Conti, A. Corma-Gómez, E. Costantini, C. Custodero, D. Daian, M. Dalmasso, A. Daniele, E. Dardiotis, J. Dartigues, P. D. de Deyn, K. de Paiva Lopes, L. D. de Witte, S. Debette, J. Deckert, T. del Ser, N. Denning, A. Destefano, M. Dichgans, J. Diehl-Schmid, M. Diez-Fairen, P. Rossi, S. Djurovic, E. Duron, E. Düzel, C. Dufouil, G. Eiriksdottir, S. Engelborghs, V. Escott-Price, A. Espinosa, M. Ewers, K. Faber, Tagliavini Fabrizio, S. F. Nielsen, D. Fardo, L. Farotti, C. Fenoglio, M. Fernandez-Fuertes, R. Ferrari, Catarina B. Ferreira, E. Ferri, B. Fin, P. Fischer, T. Fladby, K. Fliessbach, Bernard Fongang, M. Fornage, J. Fortea, T. Foroud, Silvia Fostinelli, Nick C Fox, E. Franco-Macías, M. Bullido, A. Frank‐García, L. Froelich, Brian Fulton-Howard, D. Galimberti, J. M. García-Alberca, P. García-González, S. García-Madrona, G. García-Ribas, R. Ghidoni, I. Giegling, Giaccone Giorgio, A. Goate, O. Goldhardt, Duber Gomez-Fonseca, A. Gonzáléz-Pérez, C. Graff, G. Grande, E. Green, T. Grimmer, E. Grünblatt, M. Grunin, V. Gudnason, T. Guetta-Baranes, A. Haapasalo, G. Hadjigeorgiou, J. Haines, K. Hamilton-Nelson, H. Hampel, O. Hanon, J. Hardy, A. Hartmann, L. Hausner, J. Harwood, S. Heilmann-Heimbach, S. Helisalmi, M. Heneka, I. Hernández, M. Herrmann, P. Hoffmann, C. Holmes, H. Holstege, Raquel Huerto Vilas, M. Hulsman, J. Humphrey, G. Biessels, X. Jian, C. Johansson, G. Jun, Y. Kastumata, J. Kauwe, P. Kehoe, L. Kilander, A. Ståhlbom, M. Kivipelto, A. Koivisto, J. Kornhuber, M. Kosmidis, W. Kukull, Pavel P. Kuksa, B. Kunkle, A. Kuzma, C. Lage, E. Laukka, L. Launer, A. Lauria, Chien-Yueh Lee, J. Lehtisalo, O. Lerch, A. Lleó, W. Longstreth, O. Lopez, Adolfo López de Munain, S. Love, Malin Löwemark, L. Luckcuck, K. Lunetta, Yiyi Ma, J. Macías, C. MacLeod, W. Maier, F. Mangialasche, M. Spallazzi, M. Marquié, R. Marshall, E. R. Martin, Angel Martin Montes, Carmen Martínez Rodríguez, C. Masullo, R. Mayeux, S. Mead, P. Mecocci, M. Medina, A. Meggy, S. Mehrabian, S. Mendoza, M. Menéndez-González, P. Mir, S. Moebus, M. Mol, L. Molina-Porcel, L. Montrreal, L. Morelli, F. Moreno, K. Morgan, T. Mosley, M. Nöthen, C. Muchnik, S. Mukherjee, B. Nacmias, T. Ngandu, G. Nicolas, B. Nordestgaard, R. Olaso, A. Orellana, Michela Orsini, G. Ortega, A. Padovani, Caffarra Paolo, G. Papenberg, L. Parnetti, F. Pasquier, P. Pastor, G. Peloso, A. Pérez-Cordón, J. Pérez-Tur, Pierre Pericard, O. Peters, Y. Pijnenburg, J. Pineda, G. Piñol-Ripoll, C. Pisanu, T. Polak, J. Popp, D. Posthuma, J. Priller, R. Puerta, O. Quenez, I. Quintela, J. Thomassen, A. Rábano, I. Rainero, F. Rajabli, I. Ramakers, L. Real, M. Reinders, C. Reitz, D. Reyes-Dumeyer, P. Ridge, S. Riedel-Heller, P. Riederer, N. Roberto, E. Rodríguez-Rodríguez, A. Rongve, I. Allende, M. Rosende-Roca, J. Royo, E. Rubino, D. Rujescu, M. Sáez, P. Sakka, I. Saltvedt, Á. Sanabria, M. B. Sánchez-Arjona, F. Sánchez-García, P. S. Juan, R. Sánchez-Valle, S. Sando, C. Sarnowski, C. Satizabal, M. Scamosci, N. Scarmeas, E. Scarpini, P. Scheltens, N. Scherbaum, M. Scherer, M. Schmid, A. Schneider, J. Schott, G. Selbæk, D. Seripa, M. Serrano, Jin Sha, A. Shadrin, O. Skrobot, S. Slifer, G. Snijders, H. Soininen, V. Solfrizzi, A. Solomon, Yeunjoo E. Song, S. Sorbi, O. Sotolongo-Grau, G. Spalletta, A. Spottke, A. Squassina, E. Stordal, Juan Pablo Tartan, L. Tárraga, N. Tesi, A. Thalamuthu, Tegos Thomas, G. Tosto, L. Traykov, L. Tremolizzo, A. Tybjærg-Hansen, A. Uitterlinden, Abbe Ullgren, I. Ulstein, S. Valero, O. Valladares, C. Broeckhoven, J. Vance, B. Vardarajan, A. van der Lugt, J. Dongen, J. V. van Rooij, J. V. van Swieten, R. Vandenberghe, F. Verhey, J. Vidal, Jonathan S. Vogelgsang, M. Vyhnálek, M. Wagner, D. Wallon, Li-San Wang, Ruiqi Wang, L. Weinhold, J. Wiltfang, Gill Windle, B. Woods, M. Yannakoulia, Habil Zare, Yi Zhao, Xiaoling Zhang, Congcong Zhu, M. Zulaica, L. Farrer, B. Psaty, M. Ghanbari, T. Raj, P. Sachdev, K. Mather, F. Jessen, M. A. Ikram, A. de Mendonça, J. Hort, M. Tsolaki, M. Pericak-Vance, P. Amouyel, Julie Williams, R. Frikke-Schmidt, J. Clarimón, J. Deleuze, G. Rossi, S. Seshadri, O. Andreassen, M. Ingelsson, M. Hiltunen, K. Sleegers, G. Schellenberg, C. V. van Duijn, R. Sims, W. M. van der Flier, A. Ruiz, A. Ramírez, J. Lambert   +402 more
semanticscholar   +1 more source