0000000000115417

AUTHOR

Florindo Mollica

showing 2 related works from this author

Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of vas deferens

2001

Summary The possibility of retrieving spermatozoa from the epididymis allows patients with congenital bilateral absence of the vas deferens (CBAVD) to father a child by means of assisted reproduction techniques. This has, however, increased the chance of transmitting a mutated allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene which increases the risk of generating offspring with cystic fibrosis (CF). Because of the increased heterogeneity of the CFTR locus, the study of a discrete number of mutations, as usually carried out in a diagnostic work-up, is unable to ascertain the presence of a mutation in a relatively high proportion of the patients screened. In an at…

AdultMalemedicine.medical_specialtyGenotypeCystic Fibrosis Transmembrane Conductance Regulator/genetics; Vas Deferens/abnormalities; Urogenital Abnormalities/geneticsUrologyEndocrinology Diabetes and MetabolismPopulationCystic Fibrosis Transmembrane Conductance RegulatorGastroenterologyCystic fibrosisVas DeferensPregnancyInternal medicinemedicineHumansRespiratory functionSperm Injections IntracytoplasmicAlleleeducationSweat testeducation.field_of_studybiologymedicine.diagnostic_testbusiness.industryVas deferensPregnancy Outcomemedicine.diseaseEpididymisSpermatozoaCystic fibrosis transmembrane conductance regulatorVas Deferens/abnormalitiesEndocrinologymedicine.anatomical_structureReproductive MedicineUrogenital Abnormalities/geneticsUrogenital Abnormalitiesbiology.proteinCystic Fibrosis Transmembrane Conductance Regulator/geneticsFemalebusiness
researchProduct

Wolfram's syndrome and HLA.

1988

A Sicilian family with three siblings affected by Wolfram's syndrome (Ws) is reported. HLA typing was performed in eight individuals from this family through three generations. Two of the three patients were HLA DR2 positive. The results suggest that the gene for Ws is not linked to the HLA region on chromosome 6, but located on some other chromosome, and that the allele HLA DR2 might predispose to the mutation responsible for Ws.

MaleAdolescentGenotypeWolfram syndromechemical and pharmacologic phenomenaHuman leukocyte antigenBiologymedicine.disease_causeHLA AntigensGenotypemedicineHumansAlleleChildGeneGenetics (clinical)GeneticsMutationS syndromeChromosomeWolfram Syndromemedicine.diseasePedigreeOphthalmologyChild PreschoolPediatrics Perinatology and Child HealthOphthalmic paediatrics and genetics
researchProduct