Genética clínica y medicina genómica

Copy-Number Variations in EYS: A Significant Event in the Appearance of arRP.

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR.

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.

Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.

[Recommendations of good practices for the genetic diagnosis of myotonic dystrophy].

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.

New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.

One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease.

Quantification of phenolic antioxidants in rat cerebrospinal fluid by GC-MS after oral administration of compounds.

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.

A new pericentromeric repeated DNA sequence in Microtus thomasi.

A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease.

A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.

Combined kinase inhibition modulates parkin inactivation.

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Microdissection and chromosome painting of X and B chromosomes in Locusta migratoria.

Microdissection and chromosome painting of X and B chromosomes in the grasshopper Eyprepocnemis plorans.

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

S-Nitrosylation of the epidermal growth factor receptor: a regulatory mechanism of receptor tyrosine kinase activity.

The RET functional variant c 587T>C is not associated with susceptibility to sporadic medullary thyroid cancer.

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.

Hirschsprung disease, associated syndromes and genetics: a review.

Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease.

Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.

Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma.

Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients.

Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa.

Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa.

Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.

Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.

Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis.

Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.