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Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

FRANCA

BRETAGNE
RENNES

Search for genetic variants modifying human iron homeostasis
CHU de Rennes - Hôpital Pontchaillou
UMR 6290 CNRS "Génomique fonctionnelle intégrée et biomarqueurs", Biogenouest® Plate-forme Genomique Santé

FRANCA

BRETAGNE
RENNES

Study of penetrance of C282Y homozygocity in hereditary hemochromatosis
CHU de Rennes - Hôpital Pontchaillou
Service des maladies du foie

FRANCA

OCCITANIE
MONTPELLIER

Hereditary pathology of the red blood cell and of iron metabolism: study of genetic factors interaction
CHU de Montpellier - Hôpital Saint-Eloi
Département d'Hématologie biologique

FRANCA

OCCITANIE
MONTPELLIER

Study of genes implicated in iron metabolism and clinical expression of hereditary hemochromatosis
CHU de Montpellier - Hôpital Saint-Eloi
Département d'Hématologie biologique

FRANCA

OCCITANIE
TOULOUSE

Search for genetic factors modifying hemochromatosis penetrance using different approaches like a murine model of the disease
CHU de Toulouse - Hôpital Purpan
Département génétique - maladies humaines et modèles animaux

ITALIA

PIEMONTE
TORINO

Financiado por um membro do IRDiRCRole of the plasma proteins haptoglobin and hemopexin in the pathogenesis of hemochromatosis (terminated)
Azienda Ospedaliero-Universitaria San Giovanni Battista di Torino
Dipartimento di Genetica Biologia e Biochimica

PORTUGAL

SUL
LISBOA

Hemocromatose hereditária não-clássica e outras doenças genéticas raras associadas a distúrbios na homeostase do ferro
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Genética

CANADA

Ontario
TORONTO

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SUECIA

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SUICA

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

Projetos de investigação multicêntricos