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112 Resultado(s)

Ordenados por

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

Registos e biobancos

ALEMANHA

Bayern
MÜNCHEN

MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

ALEMANHA

Hamburg
HAMBURG

Registry for Patients with WT1 Mutation Associated Diseases
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

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

AUSTRALIA

Queensland
SOUTH BRISBANE

Global Angelman Syndrome Registry
Centre for Children's Health Research
Developmental Paediatrics Group, Mater Research

AUSTRIA

STEIERMARK
GRAZ

Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen

BELGICA

ANTWERPEN
ANTWERPEN

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

BELGICA

ANTWERPEN
ANTWERPEN

Collection of FRA12A carrier DNA samples
University of Antwerp - UA
Medical Genetics Unit

BELGICA

HAINAUT
GOSSELIES

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

BELGICA

OOST-VLAANDEREN
GENT

I-DSD: International Disorders of Sex Development registry - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team] - UZ Gent

DINAMARCA

Syddanmark
ODENSE

Funen county registry of congenital anomalies - contributes to the EUROCAT network
University of Southern Denmark
Epidemiology department

ESTADOS UNIDOS

Virginia
CHARLOTTESVILLE

GNAO1 International Patient Registry
University of Virginia Health System
Department of Neurology

FINLANDIA

Finland
HELSINKI

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

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

French registry of Kabuki syndrome
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Auvergne registry of congenital anomalies - 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

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCRaDiCo-GenIDA: International social network for data collection on the natural history of rare monogenic forms of intellectual disabilities
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Financiado por um membro do IRDiRCRaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCRaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service Explorations fonctionnelles Endocriniennes

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 (CPDP)

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

HUNGRIA

Dél-Dunántúl
PECS

Tuberous sclerosis biobank
Clinical Center - University of Pécs
Department of Medical Genetics

IRLANDA

County Cork
CORK

IRLANDA

County Dublin
DUBLIN

Financiado por um membro do IRDiRCIrish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders

IRLANDA

County Dublin
DUBLIN

Dublin registry of congenital anomalies - contributes to the EUROCAT network
Dr. Steeven's Hospital
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. "Gaetano Rummo"
U.O.C. di Genetica Medica

ITALIA

LIGURIA
GENOVA

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

ITALIA

LOMBARDIA
BERGAMO

Angelman Syndrome Italian Registry (RISA)
ASST Papa Giovanni XXIII
Fondazione per la Ricerca dell'Ospedale di Bergamo

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Genetic Biobank from patients with Williams-Beuren syndrome and other genomic disorders
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. 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

ITALIA

VENETO
PADOVA

North-East of Italy registry of congenital anomalies - contributes to the EUROCAT network
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica

MALTA

MALTA
G'MANGIA

MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT
Ministry for Health
Directorate of Health Information and Research

PAISES BAIXOS

Gelderland
NIJMEGEN

AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

PAISES BAIXOS

Gelderland
NIJMEGEN

AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence

PAISES BAIXOS

Groningen
GRONINGEN

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

PAISES BAIXOS

Limburg
MAASTRICHT

Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Klinische Genetica

PAISES BAIXOS

Limburg
MAASTRICHT

Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

PAISES BAIXOS

Noord-Holland
AMSTERDAM

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen

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

Cambridgeshire
CAMBRIDGE

UK10K RARE FIND - Familial Intellectual Disability variant database
Addenbrooke's Hospital
Familial Gastric Cancer - Addenbrookes

REINO UNIDO

Cambridgeshire
CAMBRIDGE

UK10K RARE FIND - Familial Intellectual Disability variant database
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

REINO UNIDO

East Sussex
BRIGHTON

TuberOus SClerosis registry to increase disease Awareness (TOSCA)
Royal Sussex County Hospital
Sussex Kidney Unit

REINO UNIDO

Hampshire
SOUTHAMPTON

WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network
Princess Anne Hospital
Paediatric Endocrinology and the Wessex Clinical Genetics Service

REINO UNIDO

Oxfordshire
OXFORD

UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine

SUICA

Suisse Alémanique
BASEL

SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department

SUICA

Suisse Alémanique
BERN

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

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

Niedersachsen
GÖTTINGEN

ESNEK - Rare paediatric neurological disease registry Germany
Universitätsmedizin Göttingen
Geschäftsstelle der ESNEK

ALEMANHA

Nordrhein-Westfalen
BONN

GEPARD: genebank of Parkinson's disease
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

Brain-Net - brain tissue bank Munster (pediatric neuropathology)
Institut für Neuropathologie der Medizinischen Fakultät Münster
Institut für Neuropathologie

AUSTRALIA

New South Wales
WESTMEAD

RettBASE: RettSyndrome.org variation database
University of Sydney
Children's Hospital - Paediatrics and Child Health

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases

CANADA

Ontario
BRAMPTON

Fragile X Patient Registry
FXRFC
Fragile X Research Foundation of Canada

ESPANHA

Andalucía
SEVILLA

Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento

ESPANHA

Aragón
ZARAGOZA

Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria

ESPANHA

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología

ESPANHA

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Dirección General de Salud Pública y Consumo

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

Cataluña
BELLATERRA

DNA repair biobank
Universitat Autònoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA

ESPANHA

Comunidad Valenciana
VALENCIA

SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras

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 Análisis y Evaluación Asistencial

ESPANHA

Madrid
MADRID

SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud

ESPANHA

Madrid
MADRID

ReeR: Spanish National Registry of Rare Diseases
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

Population registry of rare diseases of Navarra (Spain)
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles

FRANCA

GRAND-EST
STRASBOURG

Mutation registry of the Coffin-Lowry syndrome
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique

FRANCA

GRAND-EST
STRASBOURG

UMD CSA (ERCC8) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie

FRANCA

GRAND-EST
STRASBOURG

UMD CSB (ERCC6) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie

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)

FRANCA

ILE-DE-FRANCE
PARIS

SYRENE: Rett syndrome network - French database of clinical and genetic aspects of Rett syndrome
Hôpital Necker-Enfants Malades
Service de Neurologie pédiatrique

HUNGRIA

Dél-Dunántúl
PECS

Rett syndrome biobank
Clinical Center - University of Pécs
Department of Medical Genetics

ITALIA

TOSCANA
FIRENZE

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

ITALIA

TOSCANA
SIENA

Cells lines and DNA bank of Rett syndrome and other X-linked mental retardation
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIA

TOSCANA
SIENA

Rett Syndrome Database
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

PAISES BAIXOS

Groningen
GRONINGEN

L1CAM Mutation Database
UMCG - Universitair Medisch Centrum Groningen
Laboratorium DNA Diagnostiek

PORTUGAL

NORTE
PORTO

Portuguese Rett syndrome registry
Hospital de Santo António - Centro Hospitalar do Porto
Serviço de Pediatria Médica

REINO UNIDO

Tayside
EDINBURGH

Rett Syndrome Mutation Database: MeCP2 gene
MRC Centre for Regenerative Medicine
Institute for Stem Cell Research

SUECIA

Region Skåne
LUND

DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lund University
Department of Experimental Medical Science

SUICA

Suisse Alémanique
BERN

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

SUICA

Suisse Alémanique
ZÜRICH

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

ALEMANHA

Baden-Württemberg
HEIDELBERG

iNTD (International Working Group on Neurotransmitter Related Disorders) Registry
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCEIMD: European registry and network for intoxication type metabolic diseases
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

ALEMANHA

Hamburg
HAMBURG

Hunter Outcome Survey (HOS): patient registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

BULGARIA

 South Central region
PLOVDIV

National registry of patients with mucopolysaccharidosis type II (MPS2) - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

ESPANHA

Asturias
OVIEDO

Financiado por um membro do IRDiRCRenalTube: Database of patients with primary tubulopathies
Hospital Universitario Central de Asturias
Servicio de Pediatría

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCEUROMAC: Registry of patients affected by McArdle Disease
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

ESTADOS UNIDOS

Georgia
ATLANTA

CMDIR: congenital muscular dystrophy international registry
Emory University
Woodruff Health Sciences Center

ESTADOS UNIDOS

Massachusetts
CAMBRIDGE

HOS : Hunter Outcome Survey
Shire Human Genetics Therapies, Inc.

IRLANDA

County Dublin
DUBLIN

Hunter Outcome Survey (HOS): patient registry
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Institute of Genetic Medicine - International Centre for Life
Global FKRP Registry

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

REINO UNIDO

West Midlands
BIRMINGHAM

Financiado por um membro do IRDiRCEIMD: European registry and network for intoxication type metabolic diseases
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders

SUECIA

Region Skåne
LUND

Redes de registos e biobancos

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Financiado por um membro do IRDiRCE-HOD - European network and registry for homocystinurias and methylation defects
  • Amsterdam UMC, locatie VUmc
  • Afdeling Interne Geneeskunde
  • REINO UNIDO

    Antrim and Newtownabbey
    NEWTOWNABBEY

    ALEMANHA

    Bayern
    MÜNCHEN

    BNE: BRAINNET EUROPE II (Network of European Brain and Tissue Banks for Clinical and Basic Neuroscience)
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • FRANCA

    PROVENCE-ALPES-COTE D'AZUR
    MARSEILLE

    EURORETT: European network on Rett syndrome (registry)
  • Faculté de Médecine de la Timone
  • Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
  • ALEMANHA

    Baden-Württemberg
    HEIDELBERG

    iNTD Network - International Working Group on Neurotransmitter Related Disorders
  • Dietmar-Hopp-Stoffwechselzentrum
  • Klinik für Kinderheilkunde I - Stoffwechsellabor