Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 32 Records) |
Query Trace: NEB[original query] |
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Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
Nature human behaviour 2023 3 7 (5): 790-801. Mathieson Iain, Day Felix R, Barban Nicola, Tropf Felix C, Brazel David M, , , Vaez Ahmad, van Zuydam Natalie, Bitarello Bárbara D, Gardner Eugene J, Akimova Evelina T, Azad Ajuna, Bergmann Sven, Bielak Lawrence F, Boomsma Dorret I, Bosak Kristina, Brumat Marco, Buring Julie E, Cesarini David, Chasman Daniel I, Chavarro Jorge E, Cocca Massimiliano, Concas Maria Pina, Davey Smith George, Davies Gail, Deary Ian J, Esko Tõnu, Faul Jessica D, , Franco Oscar, Ganna Andrea, Gaskins Audrey J, Gelemanovic Andrea, de Geus Eco J C, Gieger Christian, Girotto Giorgia, Gopinath Bamini, Grabe Hans Jörgen, Gunderson Erica P, Hayward Caroline, He Chunyan, van Heemst Diana, Hill W David, Hoffmann Eva R, Homuth Georg, Hottenga Jouke Jan, Huang Hongyang, Hypp?nen Elina, Ikram M Arfan, Jansen Rick, Johannesson Magnus, Kamali Zoha, Kardia Sharon L R, Kavousi Maryam, Kifley Annette, Kiiskinen Tuomo, Kraft Peter, Kühnel Brigitte, Langenberg Claudia, Liew Gerald, , Lind Penelope A, Luan Jian'an, Mägi Reedik, Magnusson Patrik K E, Mahajan Anubha, Martin Nicholas G, Mbarek Hamdi, McCarthy Mark I, McMahon George, Medland Sarah E, Meitinger Thomas, Metspalu Andres, Mihailov Evelin, Milani Lili, Missmer Stacey A, Mitchell Paul, Møllegaard Stine, Mook-Kanamori Dennis O, Morgan Anna, van der Most Peter J, de Mutsert Renée, Nauck Matthias, Nolte Ilja M, Noordam Raymond, Penninx Brenda W J H, Peters Annette, Peyser Patricia A, Polašek Ozren, Power Chris, Pribisalic Ajka, Redmond Paul, Rich-Edwards Janet W, Ridker Paul M, Rietveld Cornelius A, Ring Susan M, Rose Lynda M, Rueedi Rico, Shukla Vallari, Smith Jennifer A, Stankovic Stasa, Stefánsson Kári, Stöckl Doris, Strauch Konstantin, Swertz Morris A, Teumer Alexander, Thorleifsson Gudmar, Thorsteinsdottir Unnur, Thurik A Roy, Timpson Nicholas J, Turman Constance, Uitterlinden André G, Waldenberger Melanie, Wareham Nicholas J, Weir David R, Willemsen Gonneke, Zhao Jing Hau, Zhao Wei, Zhao Yajie, Snieder Harold, den Hoed Marcel, Ong Ken K, Mills Melinda C, Perry John R |
Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis. Indian journal of human genetics 2014 Apr 20 (2): 155-9. Pandey Rajeev Kumar, Ali Abid, Singh Amit, Gayan Sukanya, Bajpai Mi |
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Journal of molecular neuroscience : MN 2016 Apr . Piga Daniela, Magri Francesca, Ronchi Dario, Corti Stefania, Cassandrini Denise, Mercuri Eugenio, Tasca Giorgio, Bertini Enrico, Fattori Fabiana, Toscano Antonio, Messina Sonia, Moroni Isabella, Mora Marina, Moggio Maurizio, Colombo Irene, Giugliano Teresa, Pane Marika, Fiorillo Chiara, D'Amico Adele, Bruno Claudio, Nigro Vincenzo, Bresolin Nereo, Comi Giacomo Piet |
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Nature genetics 2016 Dec 48 (12): 1462-1472. Barban Nicola, Jansen Rick, de Vlaming Ronald, Vaez Ahmad, Mandemakers Jornt J, Tropf Felix C, Shen Xia, Wilson James F, Chasman Daniel I, Nolte Ilja M, Tragante Vinicius, van der Laan Sander W, Perry John R B, Kong Augustine, , Ahluwalia Tarunveer S, Albrecht Eva, Yerges-Armstrong Laura, Atzmon Gil, Auro Kirsi, Ayers Kristin, Bakshi Andrew, Ben-Avraham Danny, Berger Klaus, Bergman Aviv, Bertram Lars, Bielak Lawrence F, Bjornsdottir Gyda, Bonder Marc Jan, Broer Linda, Bui Minh, Barbieri Caterina, Cavadino Alana, Chavarro Jorge E, Turman Constance, Concas Maria Pina, Cordell Heather J, Davies Gail, Eibich Peter, Eriksson Nicholas, Esko Tõnu, Eriksson Joel, Falahi Fahimeh, Felix Janine F, Fontana Mark Alan, Franke Lude, Gandin Ilaria, Gaskins Audrey J, Gieger Christian, Gunderson Erica P, Guo Xiuqing, Hayward Caroline, He Chunyan, Hofer Edith, Huang Hongyan, Joshi Peter K, Kanoni Stavroula, Karlsson Robert, Kiechl Stefan, Kifley Annette, Kluttig Alexander, Kraft Peter, Lagou Vasiliki, Lecoeur Cecile, Lahti Jari, Li-Gao Ruifang, Lind Penelope A, Liu Tian, Makalic Enes, Mamasoula Crysovalanto, Matteson Lindsay, Mbarek Hamdi, McArdle Patrick F, McMahon George, Meddens S Fleur W, Mihailov Evelin, Miller Mike, Missmer Stacey A, Monnereau Claire, van der Most Peter J, Myhre Ronny, Nalls Mike A, Nutile Teresa, Kalafati Ioanna Panagiota, Porcu Eleonora, Prokopenko Inga, Rajan Kumar B, Rich-Edwards Janet, Rietveld Cornelius A, Robino Antonietta, Rose Lynda M, Rueedi Rico, Ryan Kathleen A, Saba Yasaman, Schmidt Daniel, Smith Jennifer A, Stolk Lisette, Streeten Elizabeth, Tönjes Anke, Thorleifsson Gudmar, Ulivi Sheila, Wedenoja Juho, Wellmann Juergen, Willeit Peter, Yao Jie, Yengo Loic, Zhao Jing Hua, Zhao Wei, Zhernakova Daria V, Amin Najaf, Andrews Howard, Balkau Beverley, Barzilai Nir, Bergmann Sven, Biino Ginevra, Bisgaard Hans, Bønnelykke Klaus, Boomsma Dorret I, Buring Julie E, Campbell Harry, Cappellani Stefania, Ciullo Marina, Cox Simon R, Cucca Francesco, Toniolo Daniela, Davey-Smith George, Deary Ian J, Dedoussis George, Deloukas Panos, van Duijn Cornelia M, de Geus Eco J C, Eriksson Johan G, Evans Denis A, Faul Jessica D, Sala Cinzia Felicita, Froguel Philippe, Gasparini Paolo, Girotto Giorgia, Grabe Hans-Jörgen, Greiser Karin Halina, Groenen Patrick J F, de Haan Hugoline G, Haerting Johannes, Harris Tamara B, Heath Andrew C, Heikkilä Kauko, Hofman Albert, Homuth Georg, Holliday Elizabeth G, Hopper John, Hyppönen Elina, Jacobsson Bo, Jaddoe Vincent W V, Johannesson Magnus, Jugessur Astanand, Kähönen Mika, Kajantie Eero, Kardia Sharon L R, Keavney Bernard, Kolcic Ivana, Koponen Päivikki, Kovacs Peter, Kronenberg Florian, Kutalik Zoltan, La Bianca Martina, Lachance Genevieve, Iacono William G, Lai Sandra, Lehtimäki Terho, Liewald David C, , Lindgren Cecilia M, Liu Yongmei, Luben Robert, Lucht Michael, Luoto Riitta, Magnus Per, Magnusson Patrik K E, Martin Nicholas G, McGue Matt, McQuillan Ruth, Medland Sarah E, Meisinger Christa, Mellström Dan, Metspalu Andres, Traglia Michela, Milani Lili, Mitchell Paul, Montgomery Grant W, Mook-Kanamori Dennis, de Mutsert Renée, Nohr Ellen A, Ohlsson Claes, Olsen Jørn, Ong Ken K, Paternoster Lavinia, Pattie Alison, Penninx Brenda W J H, Perola Markus, Peyser Patricia A, Pirastu Mario, Polasek Ozren, Power Chris, Kaprio Jaakko, Raffel Leslie J, Räikkönen Katri, Raitakari Olli, Ridker Paul M, Ring Susan M, Roll Kathryn, Rudan Igor, Ruggiero Daniela, Rujescu Dan, Salomaa Veikko, Schlessinger David, Schmidt Helena, Schmidt Reinhold, Schupf Nicole, Smit Johannes, Sorice Rossella, Spector Tim D, Starr John M, Stöckl Doris, Strauch Konstantin, Stumvoll Michael, Swertz Morris A, Thorsteinsdottir Unnur, Thurik A Roy, Timpson Nicholas J, Tung Joyce Y, Uitterlinden André G, Vaccargiu Simona, Viikari Jorma, Vitart Veronique, Völzke Henry, Vollenweider Peter, Vuckovic Dragana, Waage Johannes, Wagner Gert G, Wang Jie Jin, Wareham Nicholas J, Weir David R, Willemsen Gonneke, Willeit Johann, Wright Alan F, Zondervan Krina T, Stefansson Kari, Krueger Robert F, Lee James J, Benjamin Daniel J, Cesarini David, Koellinger Philipp D, den Hoed Marcel, Snieder Harold, Mills Melinda |
Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. Journal of the neurological sciences 2017 12 383 61-68. Lee Jong-Mok, Lim Jeong Geun, Shin Jin-Hong, Park Young-Eun, Kim Dae-Seo |
An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders. Journal of neuromuscular diseases 2018 7 5 (3): 307-314. Sagath Lydia, Lehtokari Vilma-Lotta, Välipakka Salla, Udd Bjarne, Wallgren-Pettersson Carina, Pelin Katarina, Kiiski Kir |
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. The Journal of molecular diagnostics : JMD 2018 5 20 (4): 533-549. Zenagui Reda, Lacourt Delphine, Pegeot Henri, Yauy Kevin, Juntas Morales Raul, Theze Corine, Rivier François, Cances Claude, Sole Guilhem, Renard Dimitri, Walther-Louvier Ulrike, Ferrer-Monasterio Xavier, Espil Caroline, Arné-Bes Marie-Christine, Cintas Pascal, Uro-Coste Emmanuelle, Martin Negrier Marie-Laure, Rigau Valérie, Bieth Eric, Goizet Cyril, Claustres Mireille, Koenig Michel, Cossée Mireil |
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. PloS one 2018 12 13 (12): e0207296. Moreau-Le Lan Sarah, Aller Elena, Calabria Ines, Gonzalez-Tarancon Lola, Cardona-Gay Cristina, Martinez-Matilla Marina, Aparisi Maria J, Selles Jorge, Sagath Lydia, Pitarch Inmaculada, Muelas Nuria, Cervera Jose V, Millan Jose M, Pedrola La |
Association of Interleukin-10 Genotypes and Oral Cancer Susceptibility in Selected Malaysian Population: A Case- Control Study. Asian Pacific journal of cancer prevention : APJCP 2019 Mar 20 (3): 935-941. Goud E V Soma Sekhar, Malleedi Shanthi, Ramanathan Anand, Wong Gou Rean, Hwei Ern Beatrix Tan, Yean Goh Yin, Ann Ho Hui, Syan Tan Yuen, Zain Rosnah Mo |
Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies. Molecular vision 2019 3 25 93-105. Oliver James A C, Ricketts Sally L, Kuehn Markus H, Mellersh Cathryn |
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. Clinical genetics 2019 3 95 (6): 693-703. Pagnamenta Alistair T, Kaisaki Pamela J, Bennett Fenella, Burkitt-Wright Emma, Martin Hilary C, Ferla Matteo P, Taylor John M, Gompertz Lianne, Lahiri Nayana, Tatton-Brown Katrina, Newbury-Ecob Ruth, Henderson Alex, Joss Shelagh, Weber Astrid, Carmichael Jenny, Turnpenny Peter D, McKee Shane, Forzano Francesca, Ashraf Tazeen, Bradbury Kimberley, Shears Deborah, Kini Usha, de Burca Anna, , Blair Edward, Taylor Jenny C, Stewart Hel |
The genomic profile of parathyroid carcinoma based on whole-genome sequencing. International journal of cancer 2020 6 147 (9): 2446-2457. Hu Ya, Zhang Xiang, Wang Ou, Bi Yalan, Xing Xiaoping, Cui Ming, Wang Mengyi, Tao Wei, Liao Quan, Zhao Yup |
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. Genes 2020 5 11 (5): . Gonzalez-Quereda Lidia, Rodriguez Maria Jose, Diaz-Manera Jordi, Alonso-Perez Jorge, Gallardo Eduard, Nascimento Andres, Ortez Carlos, Natera-de Benito Daniel, Olive Montse, Gonzalez-Mera Laura, Munain Adolfo Lopez de, Zulaica Miren, Poza Juan Jose, Jerico Ivonne, Torne Laura, Riera Pau, Milisenda Jose, Sanchez Aurora, Garrabou Gloria, Llano Isabel, Madruga-Garrido Marcos, Gallano P |
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. Clinical genetics 2020 Mar . Wang Qi, Hu Zhenxian, Chang Xingzhi, Yu Meng, Xie Zhiying, Lv He, Zhang Wei, Xiong Hui, Yuan Yun, Wang Zhaox |
Congenital heart disease risk loci identified by genome-wide association study in European patients.
The Journal of clinical investigation 2020 Nov . Lahm Harald, Jia Meiwen, Dreßen Martina, Wirth Felix, Puluca Nazan, Gilsbach Ralf, Keavney Bernard D, Cleuziou Julie, Beck Nicole, Bondareva Olga, Dzilic Elda, Burri Melchior, König Karl C, Ziegelmüller Johannes A, Abou-Ajram Claudia, Neb Irina, Zhang Zhong, Doppler Stefanie A, Mastantuono Elisa, Lichtner Peter, Eckstein Gertrud, Hörer Jürgen, Ewert Peter, Priest James R, Hein Lutz, Lange Rüdiger, Meitinger Thomas, Cordell Heather J, Müller-Myhsok Bertram, Krane Mark |
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis. Prenatal diagnosis 2021 Jul . Correa Alec Reginald Errol, Naini Kamal, Mishra Pallavi, Dadhwal Vatsla, Agarwal Ramesh, Shukla Rashmi, Kabra Madhulika, Gupta Neer |
Using Polygenic Scores in Social Science Research: Unraveling Childlessness. Frontiers in sociology 2021 4 4 74. Verweij Renske M, Mills Melinda C, Stulp Gert, Nolte Ilja M, Barban Nicola, Tropf Felix C, Carrell Douglas T, Aston Kenneth I, Zondervan Krina T, Rahmioglu Nilufer, Dalgaard Marlene, Skaarup Carina, Hayes M Geoffrey, Dunaif Andrea, Guo Guang, Snieder Haro |
Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.
Scientific reports 2021 Mar 11 (1): 2333. Yoon Kyung Jae, Yi Youbin, Do Jong Geol, Kim Hyung-Lae, Lee Yong-Taek, Kim Han- |
Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma. Frontiers in oncology 2021 3 11 622648. Li Peifeng, Chai Jia, Chen Zi, Liu Yang, Wei Jie, Liu Yixiong, Zhao Danhui, Ma Jing, Wang Kaijing, Li Xia, Shao Yang, Gong Li, Zhang Wei, Guo Shuangping, Yan Qingguo, Li Mingyang, Fan Linni, Wang Z |
Prognostic factors of non-muscle invasive bladder cancer: a study based on next-generation sequencing. Cancer cell international 2021 Jan 21 (1): 23. Shao Yanxiang, Hu Xu, Yang Zhen, Lia Thongher, Yang Weixiao, Wu Kan, Ren Shangqing, Xiong Sanchao, Dou Weichao, Feng Shuyang, Wang Yaohui, Liu Yang, Wu Kang, Li Xia |
Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma. Aging 2021 Jan 12 . Wang Chong, Xue Wenhua, Zhang Haohao, Fu Ya |
Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing. Human genomics 2022 09 16 (1): 36. Chen Shasha, Jin Qinchun, Hou Shiqiang, Li Mingfei, Zhang Yuan, Guan Lihua, Pan Wenzhi, Ge Junbo, Zhou Dax |
Tumour genotypes account for survival differences in right- and left-sided colon cancers. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2022 Jan . Ward Thomas M, Cauley Christy E, Stafford Caitlin E, Goldstone Robert N, Bordeianou Liliana G, Kunitake Hiroko, Berger David L, Ricciardi Roc |
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort. Biomedicines 2023 8 11 (8): . Aurora Santin, Beatrice Spedicati, Anna Morgan, Stefania Lenarduzzi, Paola Tesolin, Giuseppe Giovanni Nardone, Daniela Mazzà, Giovanni Di Lorenzo, Federico Romano, Francesca Buonomo, Alessandro Mangogna, Maria Pina Concas, Gabriella Zito, Giuseppe Ricci, Giorgia Girot |
Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center. Acta neurologica Belgica 2023 7 . Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqi |
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. European journal of human genetics : EJHG 2023 7 . Alireza Haghighi, Zahra Alvandi, Yalda Nilipour, Amirreza Haghighi, Ruth Kornreich, Shahriar Nafissi, Robert J Desni |
Data mining on identifying diagnosis and prognosis biomarkers in head and neck squamous carcinoma. Scientific reports 2023 6 13 (1): 10020. Guoyuan Ju, Zhangyu Yao, Yanbin Zhao, Xiaotong Zhao, Fangzhou L |
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. Annals of clinical and translational neurology 2023 6 . Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarko |
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population. Frontiers in genetics 2023 6 14 1155211. Priyanka Srivastava, Chitra Bamba, Seema Chopra, Minakshi Rohilla, Chakshu Chaudhry, Anupriya Kaur, Inusha Panigrahi, Kausik Mand |
Genetic and clinical landscape of ER?+?/PR- breast cancer in China. BMC cancer 2023 12 23 (1): 1189. Danian Dai, Hongmei Wu, Hongkai Zhuang, Rong Chen, Cheng Long, Bo Ch |
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- Page last updated:Apr 22, 2024
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