HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
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