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19 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
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(2)
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Purpose(s)
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(17)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Autosomal Recessive Congenital Ichthyosis Types 1, 2, 3, 5 and 6 by sequencing of the entire coding region of the gene(s) and targetted mutation analysis (Genes: ALOXE3, ALOX12B, CYP4F22, NIPAL4, TGM1)
    • Ninewells Hospital and Medical School
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Tayside
    • DUNDEE
    • Accreditation
    • Molecular diagnosis of Nonbullous Ichthyosiform Erythroderma (ALOX12B and ALOXE3 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Autosomal Recessive Congenital Ichthyosis type 2, 3, 6 and 10 (ALOX12B, ALOXE3, NIPAL4 and PNPLA1 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of congenital non-bullous ichthyosiform erythroderma (genes ALOX12B, ALOXE3, TGM1 and NIPAL4)
    • CHU de Toulouse - Hôpital Purpan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Accreditation
    • Molecular diagnosis of congenital nonbullous ichthyosiform erythroderma (TGM1 gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of congenital ichtyosis (TGM1 gene)
    • Biotecnologie Avanzate Srl
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, TGM1 genes / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of autosomal recessive congenital ichthyosis (TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 genes)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1 genes)
    • Institut für Humangenetik am Universitätsklinikum Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of congenital nonbullous ichthyosiform erythroderma (ALOXE3, ALOX12B genes)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of autosomal recessive congenital ichthyosis (TGM1 gene: Sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Diagnosis of congenital ichtyosiform erythroderma (histology, immunohistochemistry, electronic microscopy)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics, Pathology
    • Objective(s) : Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Electron microscopic diagnosis of ichthyosis
    • Universitäts-Hautklinik Heidelberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Molecular diagnosis of congenital nonbullous ichthyosiform erythroderma (TGM1, ALOX12B, NIPAL4 and ALOXE3 genes: entire coding sequence)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Immunochemical and histo-enzymatic diagnosis of autosomal recessive congenital ichthyosis like lamellar ichthyosis and congenital nonbullous ichthyosiform erythroderma
    • CHU de Toulouse - Hôpital Larrey
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Preimplantation genetic diagnosis of congenital ichthyoses (ABCA12 gene)
    • Igenomix Spain
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of lamellar ichthyosis 1 (TGM1 gene)
    • Kinder- und Jugendklinik des Universitätsklinikums Erlangen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • ERLANGEN
    • Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, PNPLA1, TGM1, LIPN genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA