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Human Genetics|April 23, 2004
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletionsMarco Venturin, Cristina Gervasini, Francesca Orzan, et al.
American Journal of Human Genetics|December 5, 2002
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypesJenny Douglas, Sandra Hanks, I Karen Temple, et al.
Journal of Medical Genetics|July 2, 2013
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosisEmma Mm Burkitt Wright, Emma Sach, Saba Sharif, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 19, 2008
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridizationKiran K Mantripragada, Gillian Spurlock, Lan Kluwe, et al.
Human Genomics|April 18, 2015
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumoursLaura E Thomas, Jincy Winston, Ellie Rad, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidneyCagatay Oktenli, Davut Gul, M Salih Deveci, et al.
Journal of Medical Genetics|November 16, 2006
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1Rosalie E Ferner, Susan M Huson, Nick Thomas, et al.
European Journal of Human Genetics : EJHG|November 24, 2011
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLaura Thomas, Gill Spurlock, Claire Eudall, et al.
Human Mutation|January 15, 2004
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumorsMeena Upadhyaya, Song Han, Claudia Consoli, et al.
Genes, Chromosomes & Cancer|July 16, 2009
Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC arrayKiran K Mantripragada, Teresita Díaz de Ståhl, Chris Patridge, et al.
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