A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Xavier Estivill, Martin Farrall, Peter Scambler, +10

Nature

Genetic DisorderMedicineGeneticsCystic Fibrosis LocusPathology +5

Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas

Eduard Serra, Susana Puig, David Otero, +5

The American Journal of Human Genetics

Neuro-oncologyNeuromasFibrosisBenign NeurofibromasMedicine +6

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Conxi Lázaro, Antonia Gaona, Peter Ainsworth, +6

Human Genetics

Mendelian DisorderGenetic DisorderGeneticsSex DifferencesPathology +6

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

H. Kruyer, Montserrat Milà, G. Glóver, +3

PubMed

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene

Frederick Tata, Philip Stanier, Carol Wicking, +8

Genomics

Knockout MouseMolecular PhysiologySignal TransductionMouse HomologMolecular Biology +8

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene

Elisabet Ars, H. Kruyer, Antonia Gaona, +6

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsNf1 GenePathology +6

Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.

G.M. Lathrop, M Farrall, P. O’Connell, +7

PubMed

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

Conxi Lázaro, Antonia Gaona, Michael Lynch, +3

PubMed

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

M. De Mil, H. Kruyer, G. Glóver, +10

Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsMolecular Analysis +12

<i>NF1</i>mutation rather than individual genetic variability is the main determinant of the<i>NF1</i>-transcriptional profile of mutations affecting splicing

Eva Pros, Sara Larriba, Eva López, +6

Human Mutation