Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Keywords

Biology, Genetics, Neurofibromatosis, Mutation, Mutation rate

References

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• Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen — 1990
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Cited by

• Analysis of segregation and expression of an identified mutation at the neuroflbromatosis type 1 locusStephen J. Treado — 1992
• Familial Segmental NeurofibromatosisSibel Oğuzkan Balcı, Mine Cinbiş, Şükriye Ayter — 2004
• Early indicators of academic difficulties in children with neurofibromatosis type 1Kelly M. Janke — 2013
• Genética da neurofibromatose tipo 1Karin Soares Cunha, Mauro Gelle, Rodrigo Soares de Moura Neto — 2007
• Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal ageRhett P. Ketterling, E. Vielhaber, X. Li — 1999
• SNP identification, haplotype analysis, and parental origin of mutations in TSC2Penelope Roberts, Joon Yong Chung, Sergiusz Jóźwiak — 2002
• Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic CounselorsHeather B. Radtke, Courtney Sebold, Caroline Allison — 2007
• Genetics of obesity and overgrowth syndromes.Matthew A. Sabin, George A. Werther, Wieland Kieß — 2011
• Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletionIrene Bottillo, Isabella Torrente, Valentina Lanari — 2010
• Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) geneP J Ainsworth, D.I. Rodenhiser, Maria Teresa Pereira Costa — 1993
• The diagnostic and clinical significance of café-au-lait macules.Kara N. Shah — 2010
• Molecular, Genetic, and Cellular Pathogenesis of Neurofibromas and Surgical ImplicationsOren N. Gottfried, David Viskochil, Daniel W. Fults — 2006
• Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies.Karen Stephens, Molly Weaver, Kathleen A. Leppig — 2006
• Neurofibromatosis Type 1 RevisitedVirginia Williams, John T. Lucas, M. A. Babcock — 2009
• Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?Hildegard Kehrer‐Sawatzki, D.N. Cooper — 2008
• Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor regionHildegard Kehrer‐Sawatzki, S Tinschert, D E Jenne — 2003
• Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotypeYunus Kasım Terzi, Burcu Sirin, Guzen Hosgor — 2012
• Malignant peripheral nerve sheath tumors.Richard G. Perrin, Abhijit Guha — 2004
• Perioperative management of neurofibromatosis type 1.Charles J. Fox, Samir Tomajian, Aaron J. Kaye — 2012
• The ongoing dissection of the genetic architecture of autistic spectrum disorderRob F. Gillis, Guy A. Rouleau — 2011

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