Related references
Note: Only part of the references are listed.SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
E. Pasmant et al.
JOURNAL OF MEDICAL GENETICS (2009)
Identifying modifier genes of monogenic disease: strategies and difficulties
Emmanuelle Genin et al.
HUMAN GENETICS (2008)
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Rosalie E. Ferner et al.
JOURNAL OF MEDICAL GENETICS (2007)
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
M. Upadhyaya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Efficiency and power in genetic association studies
PIW de Bakker et al.
NATURE GENETICS (2005)
Haploview: analysis and visualization of LD and haplotype maps
JC Barrett et al.
BIOINFORMATICS (2005)
Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix
J Li et al.
HEREDITY (2005)
A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other
DR Nyholt
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain
C Mattocks et al.
JOURNAL OF MEDICAL GENETICS (2004)
Family-based tests for associating haplotypes with general phenotype data: Application to asthma genetics
S Horvath et al.
GENETIC EPIDEMIOLOGY (2004)
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
M Venturin et al.
JOURNAL OF MEDICAL GENETICS (2004)
Screening 500 unselected neuroflibromatosis 1 patients for deletions of the NF1 gene
L Kluwe et al.
HUMAN MUTATION (2004)
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
B Castle et al.
JOURNAL OF MEDICAL GENETICS (2003)
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients -: art. no. e82
E Ars et al.
JOURNAL OF MEDICAL GENETICS (2003)
Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)
J Szudek et al.
GENETIC EPIDEMIOLOGY (2002)
The structure of haplotype blocks in the human genome
SB Gabriel et al.
SCIENCE (2002)
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
L Gouya et al.
NATURE GENETICS (2002)
The family based association test method: strategies for studying general genotype-phenotype associations
S Horvath et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain
R Fahsold et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)