Human Genome Epidemiology Literature Finder
Records 1 - 19 (of 19 Records) |
Query Trace: NPR2[original query] |
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Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting. Anesthesiology 2009 Apr 110 (4): 4. Fox AA, Collard CD, Shernan SK, Seidman CE, Seidman JG, Liu KY, Muehlschlegel JD, Perry TE, Aranki SF, Lange C, Herman DS, Meitinger T, Lichtner P, Body SC |
Association of genetic variation in the natriuretic peptide system with cardiovascular outcomes. Journal of molecular and cellular cardiology 2011 Apr 50 (4): 695-701. Ellis Katrina L, Newton-Cheh Christopher, Wang Thomas J, Frampton Chris M, Doughty Rob N, Whalley Gillian A, Ellis Chris J, Skelton Lorraine, Davis Nick, Yandle Tim G, Troughton Richard W, Richards A Mark, Cameron Vicky |
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. The Journal of clinical endocrinology and metabolism 2013 Oct 98 (10): E1636-44. Vasques Gabriela A, Amano Naoko, Docko Ana J, Funari Mariana F A, Quedas Elisangela P S, Nishi Mirian Y, Arnhold Ivo J P, Hasegawa Tomonobu, Jorge Alexander A |
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Human mutation 2015 Apr 36 (4): 474-81. Wang Sophie R, Jacobsen Christina M, Carmichael Heather, Edmund Aaron B, Robinson Jerid W, Olney Robert C, Miller Timothy C, Moon Jennifer E, Mericq Veronica, Potter Lincoln R, Warman Matthew L, Hirschhorn Joel N, Dauber Andr |
Genetic Factors Influencing B-type Natriuretic Peptide-Mediated Production of Cyclic Guanosine Monophosphate and Blood Pressure Effects in Heart Failure Patients. Journal of cardiovascular translational research 2015 Nov . Lanfear David E, Li Jia, Abbas Raza, She Ricoung, Padhukasahasram Badri, Gupta Ramesh C, Langholz David, Tang W H Wilson, Williams L Keoki, Sabbah Hani N, Chow Sheryl |
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature. Endocrine journal 2017 8 64 (10): 947-954. Hattori Atsushi, Katoh-Fukui Yuko, Nakamura Akie, Matsubara Keiko, Kamimaki Tsutomu, Tanaka Hiroyuki, Dateki Sumito, Adachi Masanori, Muroya Koji, Yoshida Shinobu, Ida Shinobu, Mitani Marie, Nagasaki Keisuke, Ogata Tsutomu, Suzuki Erina, Hata Kenichiro, Nakabayashi Kazuhiko, Matsubara Yoichi, Narumi Satoshi, Tanaka Toshiaki, Fukami Ma |
Sex Differences of the Natriuretic Peptide Polymorphism Associated With Angiographic Coronary Atherosclerosis. Cardiology research 2017 Feb 8 (1): 1-6. Li Terry Y, Tse M Yat, Pang Stephen C, McLellan Catherine S, King Will D, Johri Amer |
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. The Journal of clinical endocrinology and metabolism 2019 1 104 (6): 2023-2030. Freire Bruna L, Homma Thais K, Funari Mariana F A, Lerario Antônio M, Vasques Gabriela A, Malaquias Alexsandra C, Arnhold Ivo J P, Jorge Alexander A |
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia. Case reports in endocrinology 2019 1 2018 7658496. Jacob Marianne, Menon Surabhi, Botti Christina, Marshall I |
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. PloS one 2020 6 15 (6): e0234246. Zhang Rong, Gehlen Jan, Kawalia Amit, Melissari Maria-Theodora, Dakal Tikam Chand, Menon Athira M, Höfele Julia, Riedhammer Korbinian, Waffenschmidt Lea, Fabian Julia, Breuer Katinka, Kalanithy Jeshurun, Hilger Alina Christine, Sharma Amit, Hölscher Alice, Boemers Thomas M, Pauly Markus, Leutner Andreas, Fuchs Jörg, Seitz Guido, Ludwikowski Barbara M, Gomez Barbara, Hubertus Jochen, Heydweiller Andreas, Kurz Ralf, Leonhardt Johannes, Kosch Ferdinand, Holland-Cunz Stefan, Münsterer Oliver, Ure Beno, Schmiedeke Eberhard, Neser Jörg, Degenhardt Petra, Märzheuser Stefanie, Kleine Katharina, Schäfer Mattias, Spychalski Nicole, Deffaa Oliver J, Gosemann Jan-Hendrik, Lacher Martin, Heilmann-Heimbach Stefanie, Zwink Nadine, Jenetzky Ekkehart, Ludwig Michael, Grote Phillip, Schumacher Johannes, Thiele Holger, Reutter Hei |
Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations. Molecular genetics & genomic medicine 2020 1 8 (3): e1146. Hwang Il Tae, Mizuno Yusuke, Amano Naoko, Lee Hye Jin, Shim Young Suk, Nam Hyo-Kyoung, Rhie Young-Jun, Yang Seung, Lee Kee-Hyoung, Hasegawa Tomonobu, Kang Min J |
De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam. Molecular genetics & genomic medicine 2021 3 9 (4): e1637. Ha Thi Minh Thi, Nguyen Tran Thao Nguyen, Nguyen Thi Mai Ngan, Nguyen Huu Nguy |
Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients. Molecular and cellular endocrinology 2021 10 544 111489. Ahn Jungmin, Oh Jiyoung, Suh Junghwan, Song Kyungchul, Kwon Ahreum, Chae Hyun Wook, Oh Jun Suk, Lee Hae In, Lee Myeong Seob, Kim Ho-Seo |
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 |
Heterozygous NPR2 Variants in Idiopathic Short Stature. Genes 2022 6 13 (6): . Stavber Lana, Gaia Maria Joao, Hovnik Tinka, Jenko Bizjan Barbara, Debeljak Maruša, Kova? Jernej, Omladi? Jasna Šuput, Battelino Tadej, Kotnik Primož, Dov? Klem |
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH. Frontiers in endocrinology 2022 3 13 820001. Chen Meiping, Miao Hui, Liang Hanting, Ke Xiaoan, Yang Hongbo, Gong Fengying, Wang Linjie, Duan Lian, Chen Shi, Pan Hui, Zhu Huiju |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
Genetic evidence implicating natriuretic peptide receptor-3 in cardiovascular disease risk: a Mendelian randomization study. BMC medicine 2023 4 21 (1): 158. Héléne T Cronjé, Ville Karhunen, G Kees Hovingh, Ken Coppieters, Jens O Lagerstedt, Michael Nyberg, Dipender Gi |
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities. Gene 2023 10 892 147881. Z Spurná, P ?apková, L Punová, J DuchoslavovÁ, D Aleksijevic, P Venhá?ová, J Srovnal, J Štellmachová, V Curtisová, V Bitnerová, J Pet?ková, K Kola?íková, M Janíková, R Kratochvílová, P Vrt?l, R Vodi?ka, R Vrt?l, J Zapletalo |
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