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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Neurofibromatosis 1 and PTPN11[original query]
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
American journal of human genetics 2005 Dec 77 (6): 1092-101.
De Luca Alessandro, Bottillo Irene, Sarkozy Anna, Carta Claudio, Neri Cinzia, Bellacchio Emanuele, Schirinzi Annalisa, Conti Emanuela, Zampino Giuseppe, Battaglia Agatino, Majore Silvia, Rinaldi Maria M, Carella Massimo, Marino Bruno, Pizzuti Antonio, Digilio Maria Cristina, Tartaglia Marco, Dallapiccola Bru
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
Genetic testing 2006 10 (3): 186-91.
Bertola Débora R, Pereira Alexandre C, Albano Lílian Maria José, De Oliveira Paulo S L, Kim Chong A, Krieger José Eduar
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
Pediatric research 2009 Mar 65 (3): 334-40.
Yoshida Nao, Yagasaki Hiroshi, Xu Yinyan, Matsuda Kazuyuki, Yoshimi Ayami, Takahashi Yoshiyuki, Hama Asahito, Nishio Nobuhiro, Muramatsu Hideki, Watanabe Nobuhiro, Matsumoto Kimikazu, Kato Koji, Ueyama Junichi, Inada Hiroko, Goto Hiroaki, Yabe Miharu, Kudo Kazuko, Mimaya Junichi, Kikuchi Akira, Manabe Atsushi, Koike Kenichi, Kojima Sei
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.
Journal of medical genetics 2015 Apr 52 (4): 256-61.
Sant David W, Margraf Rebecca L, Stevenson David A, Grossmann Allie H, Viskochil David H, Hanson Heather, Everitt Melanie D, Rios Jonathan J, Elefteriou Florent, Hennessey Theresa, Mao Ro
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Clinical genetics 2021 8 100 (5): 563-572.
D'Amico Alessandra, Rosano Carmen, Pannone Luca, Pinna Valentina, Assunto Antonia, Motta Marialetizia, Ugga Lorenzo, Daniele Paola, Mandile Roberta, Mariniello Lucio, Siano Maria Anna, Santoro Claudia, Piluso Giulio, Martinelli Simone, Strisciuglio Pietro, De Luca Alessandro, Tartaglia Marco, Melis Danie
Juvenile xanthogranuloma in Noonan syndrome.
American journal of medical genetics. Part A 2021 5 185 (10): 3048-3052.
Ali Marwan M, Gilliam Amy E, Ruben Beth S, Tidyman William E, Rauen Katherine
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
British journal of haematology 2023 11 .
Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M Niemeyer, Martin Zenker, Christian Flot
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