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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 1, 2023. (Total: 223516Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Noonan Syndrome and NRAS[original query]
Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
European journal of medical genetics 0 53 (3): 117-21.
Nyström Anna-Maja, Ekvall Sara, Thuresson Ann-Charlotte, Denayer Ellen, Legius Eric, Kamali-Moghaddam Masood, Westermark Bengt, Annerén Göran, Bondeson Marie-Loui
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
Annals of hematology 2012 Apr 91 (4): 511-7.
Park Hyung-Doo, Lee Soo Hyun, Sung Ki Woong, Koo Hong Hoe, Jung Nak Gyun, Cho Bin, Kim Hak Ki, Park In-Ae, Lee Ki-O, Ki Chang-Seok, Kim Sun-Hee, Yoo Keon Hee, Kim Hee-J
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.
Circulation. Cardiovascular genetics 2012 Jun 5 (3): 317-26.
Kaski Juan Pablo, Syrris Petros, Shaw Adam, Alapi Krisztina Zuborne, Cordeddu Viviana, Esteban Maria Teresa Tome, Jenkins Sharon, Ashworth Michael, Hammond Peter, Tartaglia Marco, McKenna William J, Elliott Perry
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
The British journal of dermatology 2019 Jun 180 (6): 1438-1448.
Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn A-C, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont M-L, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
American journal of medical genetics. Part A 2019 6 179 (8): 1628-1630.
Suzuki Hisato, Takenouchi Toshiki, Uehara Tomoko, Takasago Satoshi, Ihara Satoshi, Yoshihashi Hiroshi, Kosaki Kenji
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Clinical genetics 2019 6 96 (4): 290-299.
Li Xin, Yao Ruen, Tan Xin, Li Niu, Ding Yu, Li Juan, Chang Guoying, Chen Yao, Ma Lizhuang, Wang Jian, Fu Lijun, Wang Xium
Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
Frontiers in genetics 2019 5 10 333.
Tekendo-Ngongang Cedrik, Agenbag Gloudi, Bope Christian Domilongo, Esterhuizen Alina Izabela, Wonkam Ambroi
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