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98 Resultado(s)

Ordenados por

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

Registos e biobancos

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CRRD: Central Registry of Rare Diseases
Sciensano
Health Services Research - Rare Diseases

ESPANHA

Andalucía
SEVILLA

Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Subdirección Técnica Asesora de Gestión de la Información

ESPANHA

Aragón
ZARAGOZA

Financiado por um membro do IRDiRCRare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad
Servicio de Evaluación y Acreditación Sanitaria

ESPANHA

Cantabria
SANTANDER

Population registry of rare diseases and congenital anomalies of Cantabria (Spain)
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria

ESPANHA

Comunidad Valenciana
VALENCIA

SIER-CV: Information System on rare diseases in Valencian Community (Spain)
Generalitat Valenciana. Conselleria de Sanitat Universal i Salut Pública
Servicio de Estudios Epidemiológicos y Vigilancia de Enfermedades No Transmisibles

ESPANHA

Extremadura
MÉRIDA

Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología

ESPANHA

Galicia
SANTIAGO DE COMPOSTELA

RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Atención Hospitalaria

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCRePER: Rare Diseases Patient Registry
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

ESPANHA

Murcia
MURCIA

SIERrm: Information System on rare diseases in the Region of Murcia (Spain)
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria

ESPANHA

Navarra
PAMPLONA

RERNA: Population-based Rare Disease Registry of Navarre (Spain)
Instituto de Salud Pública y Laboral de Navarra
Observatorio de la Salud Comunitaria

ESPANHA

País Vasco
BARAKALDO

Financiado por um membro do IRDiRCBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

ESPANHA

País Vasco
VITORIA-GASTEIZ

Rare Diseases Registry of the Basque Country
Gobierno Vasco. Departamento de Salud
Registro de Enfermedades Raras de la Comunidad Autónoma de Euskadi

ESTADOS UNIDOS

South Dakota
SIOUX FALLS

ESTADOS UNIDOS

Washington
BETHESDA

Financiado por um membro do IRDiRCThe NIH/NCATS GRDR® Program
NCATS National Institute of Health

FINLANDIA

Finland
HELSINKI

The Finnish Register of Visual Impairment, Näkövammarekisteri
Finnish Federation of the Visually Impaired
Näkövammaisten liitto ry

FRANCA

GRAND-EST
STRASBOURG

Financiado por um membro do IRDiRCERN [EYE] - REDgistry: An interoperable sustainable European Rare Eye Disease Registry
CHU de Strasbourg - Hôpital Civil
Centre des Affections Rares en Génétique Ophtalmologique - CARGO

FRANCA

ILE-DE-FRANCE
PARIS

French National Registry for Rare Diseases (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)

ITALIA

LAZIO
ROMA

RNMR: Italian National Rare Diseases Registry
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

TOSCANA
PISA

Tuscan Registry of Rare Diseases
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio

ITALIA

VENETO
PADOVA

Rare Diseases Registry - Veneto Region
Azienda Ospedaliera di Padova
Coordinamento Malattie Rare Regione del Veneto

SUICA

Suisse Alémanique
BERN

Swiss Rare Disease Registry (SRSK)
Institute of Social and Preventive Medicine (ISPM)

SUICA

Suisse Alémanique
ZÜRICH

Swiss Rare Disease Registry (SRSK)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

ALEMANHA

Nordrhein-Westfalen
ESSEN

Retinoblastoma Genetics Website
Universitätsklinikum Essen
Institut für Humangenetik

FRANCA

GRAND-EST
VANDOEUVRE-LÈS-NANCY

RNTSE - National registry of children solid tumors
Faculté de médecine de Nancy
Registre national des tumeurs solides de l'enfant

ITALIA

TOSCANA
SIENA

Genetic Biobank of Siena
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIA

TOSCANA
SIENA

Italian retinoblastoma registry
Università degli Studi di Siena
Dipartimento di Pediatria, Ostetricia e Medicina della Riproduzione

ALEMANHA

Baden-Württemberg
TÜBINGEN

Blue cone monochromatism - Patient registry
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

ITALIA

LAZIO
ROMA

Blue cone monochromatism patient registry (BCM Registry)
Fondazione Famiglie Monocromatismo dei Coni blu - Sede italiana
Fondazione Famiglie Monocromatismo dei Coni blu - Sede italiana di "BCM Families Foundation"

PAISES BAIXOS

Gelderland
NIJMEGEN

RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Oogheelkunde

ITALIA

LIGURIA
GENOVA

Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

ALEMANHA

Nordrhein-Westfalen
BONN

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

German Ocular Pemphigoid Registry
Universitätsklinikum Düsseldorf
Klinik für Augenheilkunde

ALEMANHA

Rheinland-Pfalz
MAINZ

Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

BELGICA

ANTWERPEN
ANTWERPEN

Antwerp registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen

BELGICA

HAINAUT
GOSSELIES

Hainaut and Namur registry of congenital anomalies - contribution to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)

ESPANHA

Madrid
MADRID

Spanish patient registry of hereditary retinal dystrophy
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica

ESPANHA

País Vasco
VITORIA-GASTEIZ

RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco. Departamento de Salud
Registro de anomalías congénitas del País Vasco

FINLANDIA

Finland
HELSINKI

Register of Congenital Malformations
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)

FRANCA

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

CEMC-Auvergne - Center for the Study of Congenital Malformations in Auvergne - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale

FRANCA

AUVERGNE-RHONE-ALPES
LYON

Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network
Registre des Malformations en Rhône Alpes
Registre des Malformations en Rhône Alpes REMERA

FRANCA

BRETAGNE
RENNES

FRANCA

BRETAGNE
RENNES

ReMaBreizh: Registry of congenital malformations in Brittany
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

OUTRE-MER
FORT DE FRANCE

French West Indies registry of congenital anomalies - contributes to the EUROCAT network
CHU de Martinique - Maison de la Femme, de la Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDPN)

FRANCA

OUTRE-MER
SAINT-PIERRE

La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network
CHU de la Réunion - GH Sud Réunion - Saint-Pierre
Service de Génétique Médicale

IRLANDA

County Cork
CORK

IRLANDA

County Dublin
DUBLIN

Dublin registry of congenital anomalies - contributes to the EUROCAT network
Health Services Executive
HSE Registry of Congenital Anomalies (East)

IRLANDA

County Kilkenny
KILKENNY

South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network
Health Service Executive South SE
South East of Ireland registry of congenital anomalies

ITALIA

CAMPANIA
BENEVENTO

Campania registry of congenital anomalies - contributes to the EUROCAT network
A.O.R.N. "San Pio" - P.O. "G. Rummo"
U.O.S.D. di Genetica Medica

ITALIA

SICILIA
CATANIA

ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network
ASMAC
Associazione per la Prevenzione Sociale e per il Trattamento delle Malformazioni Congenite

ITALIA

TOSCANA
PISA

Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia

PAISES BAIXOS

Groningen
GRONINGEN

EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

POLONIA

Poznan
POZNAN

PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej

PORTUGAL

SUL
LISBOA

RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia

REINO UNIDO

Hertfordshire
HARPENDEN

International A-T Registry - UK
AT Society
A-T Patient Registry

SUICA

Suisse Romande
LAUSANNE

EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité

ALEMANHA

Mecklenburg-Vorpommern
GREIFSWALD

German ROP (retinopathy of prematurity) Registry - contributes to the EU-ROP registry
Universitätsmedizin Greifswald
Klinik und Poliklinik für Augenheilkunde

ALEMANHA

Nordrhein-Westfalen
KÖLN

German ROP (retinopathy of prematurity) Registry - contributes to the EU-ROP registry
Universitätsklinikum Köln
Zentrum für Augenheilkunde

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

Nephronophthisis registry for patients in germany, austria and switzerland
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

Financiado por um membro do IRDiRCNEOCYST patient registry for childhood cystic kidney disease
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie

ESTADOS UNIDOS

California
BERKELEY

National Birdshot Chorioretinopathy.
University Of California Berkeley
Ophthalmology

FRANCA

GRAND-EST
REIMS

Biobank in chorioretinopathy, birdshot type
CHU de Reims - Hôpital Robert Debré
Laboratoire d'immunologie

FRANCA

GRAND-EST
STRASBOURG

Financiado por um membro do IRDiRCRaDiCo-RETICO: National cohort on inherited retinal dystrophies
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale

PAISES BAIXOS

Zuid-Holland
LEIDEN

LUMC Biobank RVCL-S (DNA/peripheral blood cells/plasma/serum/tissue/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie

SUECIA

Region Blekinge
LUND

PECARE: Swedish Registry of cataract in children
Registercentrum Syd
Regional Registry Centre, South Sweden

SUECIA

Region Uppsala
UPPSALA

SWEDROP: Swedish Registry for Retinopathy of Prematurity
Akademiska Sjukhuset
Uppsala University Hospital

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Neuromyelitis optica patient registry
Universitätsklinikum Düsseldorf
Neuromyelitis optica Studiengruppe (NEMOS)

BELGICA

OOST-VLAANDEREN
GENT

Financiado por um membro do IRDiRCI-DSD: International Disorders of Sex Development registry - BE - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team] - UZ Gent

ESPANHA

Cataluña
BARCELONA

The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad

FRANCA

AUVERGNE-RHONE-ALPES
BRON

EDMUS - NOMADMUS: French biobank of Devic's neuromyelitis optica and related neurological disorders
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec

FRANCA

GRAND-EST
STRASBOURG

Financiado por um membro do IRDiRCRaDiCo-COBBALT: National cohort on Bardet-Bield syndrome and Alström syndrome
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale

FRANCA

OCCITANIE
MONTPELLIER

Registry of hereditary Haemochromatosis of the Languedoc Roussillon (including rare forms non-HFE hemochromatosis)
CHU de Montpellier - Hôpital Saint-Eloi
Département d'Hématologie biologique

ITALIA

VENETO
PADOVA

POLONIA

Lodz
LODZ

Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Pracownia Immunopatologii I Genetyki - Laboratory of Immunopathology and Genetics

POLONIA

Lodz
LODZ

Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Departament of Pediatrics, Oncology, Hematology and Diabetology

PORTUGAL

NORTE
PORTO

MitoBreak: Base de dados de pontos de quebra no DNA mitocondrial
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research

SUECIA

Region Stockholm
SOLNA

Swedish Leber hereditary optic neuropathy registry
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases

SUICA

Suisse Alémanique
BERN

Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

National Registry for Mycotic keratitis
Universitätsklinikum Düsseldorf
Klinik für Augenheilkunde

ALEMANHA

Saarland
HOMBURG

German Acanthamoeba keratitis registry
Universitätsklinikum des Saarlandes
Klinik für Augenheilkunde

ALEMANHA

Thüringen
JENA

National Registry for Mycotic keratitis
Hans-Knöll-Institut (HKI)
Nationale Referenzzentrum für Invasive Pilzinfektionen

FRANCA

ILE-DE-FRANCE
PARIS

French cohort creation in retinitis pigmentosa
Hôpital Necker-Enfants Malades
Service d'Ophtalmologie enfants et adultes

FRANCA

OCCITANIE
MONTPELLIER

French cohort of Usher syndrome
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCA

OCCITANIE
MONTPELLIER

USHbases (Usher syndrome) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCA

PAYS DE LA LOIRE
ANGERS

eOPA1: mutations registry of OPA1 gene (Optic atrophy 1)
CHU d'Angers
Plateau de Biologie et Médecine Moléculaire

ITALIA

TOSCANA
FIRENZE

Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica

SUECIA

Region Örebro län
ÖREBRO

SVUSH: Swedish registry on Usher syndrome
Örebro Universitetssjukhus
Örebro University Hospital

Redes de registos e biobancos

ITALIA

LOMBARDIA
VARESE

Financiado por um membro do IRDiRCEUROCAT: European surveillance of congenital anomalies
  • European Commission's Joint Research Centre in Ispra
  • European Commission's Joint Research Centre
  • ALEMANHA

    Mecklenburg-Vorpommern
    GREIFSWALD

    EU-ROP: European Disease Registry on Retinopathy of Prematurity (ROP)
  • Universitätsmedizin Greifswald
  • Klinik und Poliklinik für Augenheilkunde
  • ALEMANHA

    Mecklenburg-Vorpommern
    GREIFSWALD

    EU-ROP- European Retinopathy of prematurity (ROP) registry
  • Universitätsmedizin Greifswald
  • Klinik und Poliklinik für Augenheilkunde
  • REINO UNIDO

    West Midlands
    BIRMINGHAM