Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Syndrome and SPRED1[original query] |
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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Journal of medical genetics 2009 Jul 46 (7): 431-7. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim H-Ping, Side L, Davies S, Haan E, Kerr B, Huson S M, Upadhyaya |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 2009 Nov 302 (19): 2111-8. Messiaen Ludwine, Yao Suxia, Brems Hilde, Callens Tom, Sathienkijkanchai Achara, Denayer Ellen, Spencer Emily, Arn Pamela, Babovic-Vuksanovic Dusica, Bay Carolyn, Bobele Gary, Cohen Bruce H, Escobar Luis, Eunpu Deborah, Grebe Theresa, Greenstein Robert, Hachen Rachel, Irons Mira, Kronn David, Lemire Edmond, Leppig Kathleen, Lim Cynthia, McDonald Marie, Narayanan Vinodh, Pearn Amy, Pedersen Robert, Powell Berkley, Shapiro Lawrence R, Skidmore David, Tegay David, Thiese Heidi, Zackai Elaine H, Vijzelaar Raymon, Taniguchi Koji, Ayada Toranoshin, Okamoto Fuyuki, Yoshimura Akihiko, Parret Annabel, Korf Bruce, Legius Er |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. The Journal of pediatrics 2011 Dec 159 (6): 1029-35. Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wo |
Peripheral blood gene expression as a novel genomic biomarker in complicated sarcoidosis. PloS one 2012 7 (9): e44818. Zhou Tong, Zhang Wei, Sweiss Nadera J, Chen Edward S, Moller David R, Knox Kenneth S, Ma Shwu-Fan, Wade Michael S, Noth Imre, Machado Roberto F, Garcia Joe G |
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients. Annals of human genetics 2018 7 82 (6): 425-436. Palma Milla Carmen, Lezana Rosales José Miguel, López Montiel Javier, Andrés Garrido Lucas David, Sánchez Linares Carlos, Carmona Tamajón Sandra, Torres Fernández Carmen, Sánchez González Pablo, Franco Freire Sara, Benito López Carmen, López Siles Ju |
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 |
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 |
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- Page last updated:Apr 22, 2024
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