Genética humana y reproducción

Aortopulmonary Window with Atrial Septal Defect: Prenatal Diagnosis, Management and Outcome.

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.

Diagnosis and management of fetal intrapericardial Morgagni diaphragmatic hernia with massive pericardial effussion.

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

EYS is a major gene for rod-cone dystrophies in France.

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.

Microarray-based mutation analysis of 183 Spanish families suffering from Usher syndrome.

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

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.

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.

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.

Diagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancy.

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

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

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.

Provision and quality assurance of preimplantation genetic diagnosis in Europe.

Spanish stem cell bank interviews examine the interest of couples in donating surplus human IVF embryos for stem cell research.

A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.

Analysis of the -844C > T polymorphism in the promoter region of FASLgene in a cohort of Spanish HCV patients.

Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.

Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2.

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.

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

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

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

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.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

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

Spanish family with myalgia and cramps syndrome.

The -670A > G polymorphism in the promoter region of the FAS gene is associated with necrosis in periportal areas in patients with chronic hepatitis C.

Analysis of CCR5-Delta 32 and CCR2-V64I polymorphisms in a cohort of Spanish HCV patients using real-time polymerase chain reaction and fluorescence resonance energy transfer technologies.

Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis.

Labor induction with dinoprostone or oxytocine and postpartum disseminated intravascular coagulation: a hospital-based case-control study.

The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer.

Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain.

Fluorescence resonance energy transfer analysis of the RANTES polymorphisms -403G --> A and -28G --> C: evaluation of both variants as susceptibility factors to HIV type 1 infection in the Spanish population.

Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.

Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases.

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.