Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 34 Records) |
Query Trace: EXT1[original query] |
---|
Skeletal growth patterns in hereditary multiple exostoses: a natural history. Journal of pediatric orthopedics. Part B 2012 Mar 21 (2): 150-4. Clement Nicholas David, Duckworth Andrew D, Baker Alexander D L, Porter Daniel |
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. Gene 2012 Dec . Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L |
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. The Journal of bone and joint surgery. American volume 2011 Dec 93 (24): 2294-302. Pedrini Elena, Jennes Ivy, Tremosini Morena, Milanesi Annamaria, Mordenti Marina, Parra Alessandro, Sgariglia Federica, Zuntini Monia, Campanacci Laura, Fabbri Nicola, Pignotti Elettra, Wuyts Wim, Sangiorgi Lu |
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. Journal of the American Heart Association 2014 Dec 3 (6): e001274. Mooij H L, Cabrales P, Bernelot Moens S J, Xu D, Udayappan S D, Tsai A G, van der Sande M A J, de Groot E, Intaglietta M, Kastelein J J P, Dallinga-Thie G M, Esko J D, Stroes E S, Nieuwdorp |
Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. PloS one 2014 12 9 (12): e115662. Bernelot Moens Sophie J, Mooij Hans L, Hassing H Carlijne, Kruit Janine K, Witjes Julia J, van de Sande Michiel A J, Nederveen Aart J, Xu Ding, Dallinga-Thie Geesje M, Esko Jeffrey D, Stroes Erik S G, Nieuwdorp M |
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. Bone 2015 Mar 72 123-7. Sgariglia Federica, Pedrini Elena, Bradfield Jonathan P, Bhatti Tricia R, D'Adamo Pio, Dormans John P, Gunawardena Aruni T, Hakonarson Hakon, Hecht Jacqueline T, Sangiorgi Luca, Pacifici Maurizio, Enomoto-Iwamoto Motomi, Grant Struan F |
Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender. Scottish medical journal 2014 Feb 59 (1): 35-44. Clement N D, Porter D |
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans. Journal of lipid research 2015 1 56 (3): 665-673. Mooij Hans L, Bernelot Moens Sophie J, Gordts PhilipL S M, Stanford KristinI, Foley ErinM, van den Boogert MarjoleinA W, Witjes JuliaJ, Hassing H Carlijne, Tanck MichaelW, van de Sande MichielA J, Levels J Han, Kastelein JohnJ P, Stroes ErikS G, Dallinga-Thie GeesjeM, Esko JeffD, Nieuwdorp M |
Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle. Molecular and clinical oncology 2016 Sep 5 (3): 295-299. Zhou Qin, Yang Chi, Chen Min-Jie, Li Ling-Z |
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. Bone 2016 Sep 92 196-200. Cousminer Diana L, Arkader Alexandre, Voight Benjamin F, Pacifici Maurizio, Grant Struan F |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. BMC genetics 2016 17 (1): 52. Ishimaru Daichi, Gotoh Masanori, Takayama Shinichiro, Kosaki Rika, Matsumoto Yoshihiro, Narimatsu Hisashi, Sato Takashi, Kimata Koji, Akiyama Haruhiko, Shimizu Katsuji, Matsumoto Ka |
Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer. Journal of molecular medicine (Berlin, Germany) 2016 Feb . Er Tze-Kiong, Su Yu-Fa, Wu Chun-Chieh, Chen Chih-Chieh, Wang Jing, Hsieh Tsung-Hua, Herreros-Villanueva Marta, Chen Wan-Tzu, Chen Yi-Ting, Liu Ta-Chih, Chen Hung-Sheng, Tsai Eing-M |
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Molecular autism 2017 8 21. Authors are not available |
Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS).
PloS one 2017 12 (12): e0188725. Shendre Aditi, Wiener Howard W, Irvin Marguerite R, Aouizerat Bradley E, Overton Edgar T, Lazar Jason, Liu Chenglong, Hodis Howard N, Limdi Nita A, Weber Kathleen M, Gange Stephen J, Zhi Degui, Floris-Moore Michelle A, Ofotokun Ighovwerha, Qi Qibin, Hanna David B, Kaplan Robert C, Shrestha Sade |
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. BMC medical genetics 2017 11 18 (1): 126. Li Yuchan, Wang Jian, Wang Zhigang, Tang Jingyan, Yu Tingti |
Germline mutations in young non-smoking women with lung adenocarcinoma. Lung cancer (Amsterdam, Netherlands) 2018 7 122 76-82. Donner Iikki, Katainen Riku, Sipilä Lauri J, Aavikko Mervi, Pukkala Eero, Aaltonen Lauri |
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. Molecular genetics & genomic medicine 2018 3 6 (3): 382-392. Santos Savana C L, Rizzo Isabela M P O, Takata Reinaldo I, Speck-Martins Carlos E, Brum Jaime M, Sollaci Claud |
Correlation between mutated genes and forearm deformity in patients with multiple osteochondroma. Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2020 7 26 (3): 483-486. Matsumoto Kazu, Ishimaru Daichi, Ogawa Hiroyasu, Komura Shingo, Shimizu Katsuji, Akiyama Haruhi |
An analysis of osteoporosis in patients with hereditary multiple exostoses. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2020 7 31 (12): 2355-2361. Matsumoto K, Ogawa H, Nozawa S, Akiyama |
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. European journal of endocrinology 2021 9 185 (5): 691-705. Sentchordi-Montané Lucía, Benito-Sanz Sara, Aza-Carmona Miriam, Díaz-González Francisca, Modamio-Høybjør Silvia, de la Torre Carolina, Nevado Julián, Ruiz-Ocaña Pablo, Bezanilla-López Carolina, Prieto Pablo, Bahíllo-Curieses Pilar, Carcavilla Atilano, Mulero-Collantes Inés, Barreda-Bonis Ana C, Cruz-Rojo Jaime, Ramírez-Fernández Joaquín, Bermúdez de la Vega José Antonio, Travessa André M, González de Buitrago Amigo Jesús, Del Pozo Angela, Vallespín Elena, Solís Mario, Goetz Carlos, Campos-Barros Ángel, Santos-Simarro Fernando, González-Casado Isabel, Ros-Pérez Purificación, Parrón-Pajares Manuel, Heath Karen |
[Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 6 38 (6): 549-552. Guo Xiaoyan, Zheng Qinqin, Lin Mingrui, Zhang Yiyuan, Shi Tengf |
Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility. Cancers 2021 May 13 (11): . Yepes Sally, Shah Nirav N, Bai Jiwei, Koka Hela, Li Chuzhong, Gui Songbai, McMaster Mary Lou, Xiao Yanzi, Jones Kristine, Wang Mingyi, Vogt Aurelie, Zhu Bin, Zhu Bin, Hutchinson Amy, Yeager Meredith, Hicks Belynda, Carter Brian, Freedman Neal D, Beane-Freeman Laura, Chanock Stephen J, Zhang Yazhuo, Parry Dilys M, Yang Xiaohong R, Goldstein Alisa |
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas. Molecular syndromology 2021 5 12 (2): 96-100. Wang Chen-Yu, Yu Fang, Jin Jie-Yuan, He Ji-Qiang, Fan Liang-Liang, Tang Ju-Yu, Xiang Ro |
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses. Orphanet journal of rare diseases 2021 2 16 (1): 100. Al-Zayed Zayed, Al-Rijjal Roua A, Al-Ghofaili Lamya, BinEssa Huda A, Pant Rajeev, Alrabiah Anwar, Al-Hussainan Thamer, Zou Minjing, Meyer Brian F, Shi Yuf |
A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients. Journal of clinical medicine 2022 7 11 (13): . Kim Sungmin, Lee Chang-Hyun, Choi Seok-Yong, Kim Myeong-Kyu, Jung Sung Ta |
Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier. Molecular genetics and genomics : MGG 2022 2 297 (2): 397-405. Khalil Ramzi, Boels Margien G S, , van den Berg Bernard M, Bruijn Jan A, Rabelink Ton J, Hogendoorn Pancras C W, Baelde Hans |
Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard. European journal of human genetics : EJHG 2022 11 31 (2): 248-251. Jackson Iseult, Mattiangeli Valeria, Cassidy Lara M, Murphy Eileen, Bradley Daniel |
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes. Journal of medical genetics 2023 8 . Nathalia de Angelis de Carvalho, Karina Miranda Santiago, Joyce Maria Lisboa Maia, Felipe D'Almeida Costa, Maria Nirvana Formiga, Diogo Cordeiro de Queiroz Soares, Daniele Paixão, Celso Abdon Lopes de Mello, Cecilia Maria Lima da Costa, José Claudio Casali da Rocha, Barbara Rivera, Dirce Maria Carraro, Giovana Tardin Torrez |
Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas. Turkish archives of pediatrics 2023 6 . Nilay Güne?, Dilek Uluda? Alkaya, Asl? Toylu, Püren Özüdo?ru, Evrim Çifçi Sunamak, Ali ?eker, Bilal Demir, Sebuh Kuru?o?lu, Ercan M?hç?, Beyhan Tüys |
Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma. Life (Basel, Switzerland) 2023 11 13 (11): . Hillary P Esplen, Richard K Yang, Awdhesh Kalia, Zhenya Tang, Guilin Tang, L Jeffrey Medeiros, Gokce A Torun |
- Page last reviewed:Feb 1, 2024
- Page last updated:Jun 03, 2024
- Content source: