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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2023. (Total: 223688Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Noonan Syndrome and LZTR1[original query]
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Human genetics 2018 10 138 (1): 21-35.
Umeki Ikumi, Niihori Tetsuya, Abe Taiki, Kanno Shin-Ichiro, Okamoto Nobuhiko, Mizuno Seiji, Kurosawa Kenji, Nagasaki Keisuke, Yoshida Makoto, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Fujiwara Ikuma, Kure Shigeo, Aoki Yo
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
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
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Orphanet journal of rare diseases 2019 2 14 (1): 29.
Chen Hao, Li Xin, Liu Xiaoliang, Wang Jian, Zhang Zhen, Wu Jinjin, Huang Meirong, Guo Ying, Li Fen, Wang Xiumin, Fu Lij
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
American journal of medical genetics. Part A 2019 Dec .
Chinton Josefina, Huckstadt Victoria, Mucciolo Mafalda, Lepri Francesca, Novelli Antonio, Gravina Luis Pablo, Obregon María Gabrie
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
American journal of medical genetics. Part C, Seminars in medical genetics 2020 10 184 (4): 896-911.
Bertola Débora R, Castro Matheus A A, Yamamoto Guilherme L, Honjo Rachel S, Ceroni José Ricardo, Buscarilli Michele M, Freitas Amanda B, Malaquias Alexsandra C, Pereira Alexandre C, Jorge Alexander A L, Passos-Bueno Maria Rita, Kim Chong
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Orphanet journal of rare diseases 2021 12 16 (1): 499.
Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Journal of clinical medicine 2023 8 12 (15): .
Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquie
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