Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: 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 |
Deletions of IKZF1 and SPRED1 are associated with poor prognosis in a population-based series of pediatric B-cell precursor acute lymphoblastic leukemia diagnosed between 1992 and 2011. Leukemia 2014 Feb 28 (2): 302-10. Olsson L, Castor A, Behrendtz M, Biloglav A, Forestier E, Paulsson K, Johansson |
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
PeerJ 2013 1 e66. Khor Seik-Soon, Miyagawa Taku, Toyoda Hiromi, Yamasaki Maria, Kawamura Yoshiya, Tanii Hisashi, Okazaki Yuji, Sasaki Tsukasa, Lin Ling, Faraco Juliette, Rico Tom, Honda Yutaka, Honda Makoto, Mignot Emmanuel, Tokunaga Katsus |
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? European journal of human genetics : EJHG 2015 May 23 (5): 596-601. Pasmant Eric, Parfait Béatrice, Luscan Armelle, Goussard Philippe, Briand-Suleau Audrey, Laurendeau Ingrid, Fouveaut Corinne, Leroy Chrystel, Montadert Annelore, Wolkenstein Pierre, Vidaud Michel, Vidaud Dominiq |
Cooperative genetic changes in pediatric B-cell precursor acute lymphoblastic leukemia with deletions or mutations of IKZF1. Genes, chromosomes & cancer 2015 May 54 (5): 315-25. Olsson Linda, Albitar Ferras, Castor Anders, Behrendtz Mikael, Biloglav Andrea, Paulsson Kajsa, Johansson Bert |
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 |
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets. Nature communications 2019 7 10 (1): 3163. Newell Felicity, Kong Yan, Wilmott James S, Johansson Peter A, Ferguson Peter M, Cui Chuanliang, Li Zhongwu, Kazakoff Stephen H, Burke Hazel, Dodds Tristan J, Patch Ann-Marie, Nones Katia, Tembe Varsha, Shang Ping, van der Weyden Louise, Wong Kim, Holmes Oliver, Lo Serigne, Leonard Conrad, Wood Scott, Xu Qinying, Rawson Robert V, Mukhopadhyay Pamela, Dummer Reinhard, Levesque Mitchell P, Jönsson Göran, Wang Xuan, Yeh Iwei, Wu Hong, Joseph Nancy, Bastian Boris C, Long Georgina V, Spillane Andrew J, Shannon Kerwin F, Thompson John F, Saw Robyn P M, Adams David J, Si Lu, Pearson John V, Hayward Nicholas K, Waddell Nicola, Mann Graham J, Guo Jun, Scolyer Richard |
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 |
A Pilot Study of Aberrant CpG Island Hypermethylation of SPRED1 in Acute Myeloloid Leukemia. International journal of medical sciences 2019 2 16 (2): 324-330. Sun Jingwen, Zhang Jinjing, Wang Yue, Li Yan, Zhang R |
Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population. Molecular genetics & genomic medicine 2019 Dec e1098. Xing Jianxiao, Zhao Xincheng, Li Xiaofang, Wang Ying, Li Junqin, Hou Ruixia, Niu Xuping, Yin Guohua, Li Xinhua, Zhang Kaimi |
Multi-omics study in monozygotic twins confirm the contribution of de novo mutation to psoriasis. Journal of autoimmunity 2019 Oct 102349. Li Junqin, Lin Haoxiang, Hou Ruixia, Shen Juan, Li Xiaofang, Xing Jianxiao, He Fusheng, Wu Xueli, Zhao Xincheng, Sun Liangdan, Fan Xing, Niu Xuping, Liu Yanmin, Liu Ruifeng, An Peng, Qu Tong, Chang Wenjuan, Wang Qiang, Zhou Ling, Li Jiao, Wang Ziyuan, Jiao Juanjuan, Wang Ying, Wang Gang, Liang Nannan, Liang Jiannan, Liang Yanyang, Hou Hui, Shi Yu, Yang Xiaohong, Li Juan, Dang Erle, Yin Guohua, Yang Xukui, Zhang Guiping, Gao Qiang, Fang Xiaodong, Li Xinhua, Zhang Kaimi |
Genetic susceptibility to acute graft versus host disease in pediatric patients undergoing HSCT. Bone marrow transplantation 2021 Jul . Ansari Marc, Petrykey Kateryna, Rezgui Mohamed Aziz, Del Vecchio Veronica, Cortyl Jacques, Ameur Milad, Nava Tiago, Beaulieu Patrick, St-Onge Pascal, Mlakar Simona Jurkovic, Uppugunduri Chakradhara Rao S, Théoret Yves, Bartelink Imke H, Boelens Jaap-Jan, Bredius Robbert G M, Dalle Jean-Hugues, Lewis Victor, Kangarloo Bill S, Corbacioglu Selim, Sinnett Daniel, Bittencourt Henrique, Krajinovic Ma |
Meta-Analysis and Systematic Review of the Genomics of Mucosal Melanoma. Molecular cancer research : MCR 2021 3 19 (6): 991-1004. Broit Natasa, Johansson Peter A, Rodgers Chloe B, Walpole Sebastian T, Newell Felicity, Hayward Nicholas K, Pritchard Antonia |
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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