The parental origin of new mutations in neurofibromatosis 2 (original) (raw)
Neurofibromatosis type 2 appears to be a genetically homogeneous disease
Marina Frontali
American journal of human genetics, 1992
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Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene
franco ammannati
Human Genetics, 2000
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Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
Arvid Heiberg
Journal of Medical Genetics, 2003
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Further genotype â phenotype correlations in neurofibromatosis 2
Rosalie Ferner
Clinical Genetics, 2010
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Neurofibromatosis type 2: Molecular and clinical analyses in Argentine sporadic and familial cases
Armando Basso
Neuroscience Letters, 2010
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A point mutation associated with a severe phenotype of neurofibromatosis 2
Kevin Davis
Annals of Neurology, 1996
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NF2 gene in neurofibromatosis type 2 patients
jessica Zucman-Rossi
Human Molecular Genetics, 1998
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The Genetic Aspects of Neurofibromatosis
John Carey
Annals of the New York Academy of Sciences, 1986
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Clinical and genetic patterns of neurofibromatosis 1 and 2
Nicola Ragge
British Journal of Ophthalmology, 1993
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Genetic Diagnosis of Neurofibromatosis Type 2.
Tomás Goucha
2011
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Molecular Characterization of the NF2 Gene in Korean Patients with Neurofibromatosis Type 2: A Report of Four Novel Mutations
Ji Yeon Kim
Korean Journal of Laboratory Medicine, 2010
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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I
Francesco Bonatti
International journal of molecular sciences, 2017
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Three Novel NF1 Gene Mutations in a Cohort of Bulgarian Neurofibromatoses Patients
Lyudmila Angelova, M. Glushkova
Russian Journal of Genetics, 2018
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Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset
Miriam Smith
Journal of medical genetics, 2011
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Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4‐MB constitutional deletion on chromosome 22: Possible localization of a neurofibromatosis type 2 modifier gene?
mahmoud zakaria
Genes, Chromosomes and Cancer, 1999
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Somatic loss of wild typeNF1 allele in neurofibromas: Comparison ofNF1 microdeletion and non-microdeletion patients
Ludwine Messiaen, Eric Legius
Genes, Chromosomes and Cancer, 2006
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Genetic Linkage Analysis of Neurofibromatosis
Conrad Gilliam
Annals of the New York Academy of Sciences, 1986
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Frequency of loss of heterozygosity of the NF2 gene in schwannomas from Croatian patients
Nives Pećina-Šlaus
Croatian Medical Journal, 2012
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Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing
Victor Volpini
Case Reports in Neurology, 2011
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Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1
Margaret Wallace
Journal of Medical Genetics, 1998
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The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE
Aisha Al-shamsi
Child's Nervous System, 2014
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Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
Bernard Guillot
Human Molecular Genetics, 2009
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Mutations and Allelic Loss of the NF2 Gene in Neurofibromatosis 2-Associated Skin Tumors
Lan Kluwe
Journal of Investigative Dermatology, 2000
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Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2
Lars Bolund
Human Mutation, 2005
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A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage
Shiva Singh
Journal of Medical Genetics, 1993
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NF2 gene deletion in a family with a mild phenotype
Hilde Brems
Journal of Medical Genetics, 2000
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Genetic linkage studies with neurofibromatosis: the question of heterogeneity
Victoria Cortessis
Journal of Medical Genetics, 1987
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