Publications of L. Musante
All genres
Journal Article (29)
21.
Journal Article
478 (7367), pp. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 22.
Journal Article
31 (1), pp. 90 - 98 (2010)
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Human Mutation 23.
Journal Article
17 (4), pp. 420 - 425 (2009)
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. European Journal of Human Genetics 24.
Journal Article
30 (1), pp. 61 - 68 (2009)
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Human Mutation 25.
Journal Article
146 A (16), pp. 2053 - 2059 (2008)
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. American Journal of Medical: Genetics Part A 26.
Journal Article
38 (3), pp. 331 - 336 (2006)
Germline KRAS mutations cause Noonan syndrome. Nature Genetics 27.
Journal Article
332, pp. 119 - 127 (2004)
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. Gene 28.
Journal Article
35 (4), pp. 313 - 315 (2003)
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics 29.
Journal Article
11 (2), pp. 201 - 206 (2003)
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome. European Journal of Human Genetics Thesis - PhD (1)
30.
Thesis - PhD
Molecular characterization of Noonan Syndrome. Dissertation, Università degli Studi di Torino, Torino, Italy (2003)