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124 Resultado(s)

Ordenados por

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

Registos e biobancos

ALEMANHA

Baden-Württemberg
FREIBURG

Financiado por um membro do IRDiRCPID-NET: German National Registry for Primary Immunodeficiencies (PID) - partner of the ESID registry
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALEMANHA

Baden-Württemberg
FREIBURG

ESID: European registry of primary immunodeficiencies
Universitätsklinikum Freiburg
ESID Online Datenbank

ALEMANHA

Baden-Württemberg
FREIBURG

ALEMANHA

Bayern
MÜNCHEN

PID-NET: Decentral National Biomaterial Bank from patients with Primary Immunodeficiency Syndromes
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)

BELGICA

OOST-VLAANDEREN
GENT

A biobank of patients with Primary Immune Deficiencies (PID)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center

BELGICA

VLAAMS BRABANT
LEUVEN

Belgian registry of primary immunodeficiencies - contributes to the ESID European registry
UZ Leuven - Campus Gasthuisberg
Laboratory of Pediatric Immunology

BULGARIA

 South-West region
SOFIA

ESPANHA

Baleares
PALMA DE MALLORCA

FRANCA

ILE-DE-FRANCE
PARIS

CEREDIH: French primary immunodeficiencies registry
Hôpital Necker-Enfants Malades
Registre français des déficits immunitaires héréditaires

FRANCA

ILE-DE-FRANCE
PARIS

SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe
Hôpital Necker-Enfants Malades
Registre européen des greffes de moelle osseuse pour immunodéficience primaire

IRLANDA

County Dublin
DUBLIN

ITALIA

LIGURIA
GENOVA

Financiado por um membro do IRDiRCERN [RITA] - MERITA: A METADATA REGISTRY FOR THE ERN RITA
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O. Pediatria II

POLONIA

Warszawa
WARSAW

Polish registry of primary immunodeficiencies - contributes to the ESID European registry
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Klinika Immunologii

PORTUGAL

NORTE
PORTO

REPORID - Registo Português de imunodeficiências primárias
Centro Hospitalar Universitário do Porto - Hospital Santo António
Centro Coordenador do REPORID

ALEMANHA

Baden-Württemberg
TÜBINGEN

Neutropenia biobank - contributes to the SCN international registry (SCNIR)
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für allgemeine Pädiatrie, Hämatologie/Onkologie

ALEMANHA

Niedersachsen
HANNOVER

AUSTRIA

STEIERMARK
GRAZ

Skin cancer syndrome registry Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

BELGICA

VLAAMS BRABANT
LEUVEN

Pediatric Granulomatous Arthritis International Registry [Terminated]
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology

BELGICA

VLAAMS BRABANT
LEUVEN

Biobank of the pediatric granulomatous arthritis international registry [terminated]
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology

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

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
LUGO

REPA: Spanish registry of alveolar proteinosis
Hospital Universitario Lucus Augusti
Servicio de Neumología

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

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

BLAU registry: French pediatric granulomatous arthritis registry
Hôpital Necker-Enfants Malades
Service d'Immuno-hématologie pédiatrique - Rhumatologie

ITALIA

LAZIO
ROMA

FMF: Italian registry for familial mediterranean fever in the young
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Sezione Pediatrica

ITALIA

LAZIO
ROMA

Italian Registry of adult patients affected by familial mediterranean fever
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Centro delle Febbri Periodiche - Istituto di Medicina Interna

PAISES BAIXOS

Utrecht
NIEUWEGEIN

Financiado por um membro do IRDiRCBiobank of Interstitial Lung Diseases (DNA/serum/plasma/BAL fluid)
St. Antonius Ziekenhuis, locatie Nieuwegein
Longcentrum

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

IFNGR1base: Mutation registry for IFN gamma 1-receptor deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

IFNGR2base: Mutation registry for IFN gamma 2-receptor deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

IL12RB1base: Mutation registry for Interleukin-12 receptor á1 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

IRAK4base: Mutation registry for IRAK4 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

STAT1base: Mutation registry for STAT1 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

TLR3base: Mutation registry for Influenza-associated encephalopathy
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)
Lund University
Department of Experimental Medical Science

SUICA

Suisse Alémanique
BASEL

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

Niedersachsen
HANNOVER

Financiado por um membro do IRDiRCSCNIR: neutropenia cell bank
Medizinische Hochschule Hannover
SCNIR - Europazentrale

AUSTRIA

OBERÖSTERREICH
LINZ

Austrian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
Kepler Universitätsklinikum - Med Campus IV.
Zentrum für Medizinische Genetik

AUSTRIA

TIROL
INNSBRUCK

Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

BELGICA

OOST-VLAANDEREN
GENT

Belgian severe chronic neutropenia patient registry - contributes to the Severe Chronic Neutropenia International Registry (SCNIR)
Kinderziekenhuis Prinses Elisabeth- UZ Gent
Pediatric Hematology-Oncology and Stem Cell Transplantation/Afdeling Hemato-oncologie en stamceltransplantatie kinderen

COREIA DO SUL

KOREA, REPUBLIC OF
SEOUL

Financiado por um membro do IRDiRCKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

DINAMARCA

Sjælland
COPENHAGEN

Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine

ESPANHA

Cataluña
BARCELONA

Spanish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Hospital Universitari Vall d'Hebron
Servicio de Oncología y Hematología Pediátricas

ESPANHA

Comunidad Valenciana
VALENCIA

CIBERER Biobank (Biobank of rare diseases)
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

ESPANHA

Comunidad Valenciana
VALENCIA

CIBERER Biobank (Biobank of rare diseases)
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

ESPANHA

Madrid
MADRID

BioNER: Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

ESPANHA

País Vasco
BARAKALDO

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

ESTONIA

Tartu
TARTU

Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

FRANCA

ILE-DE-FRANCE
PARIS

French severe chronic neutropenia certified patient registry - contributes to the SCN international registry (SCNIR)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service d'Hématologie - Oncologie pédiatrique

GRECIA

ATTIKI
ATHENS

HUNGRIA

Közép-Magyarország
DEBRECEN

Hungarian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
University of Debrecen
Department of children immunology and infectology

IRLANDA

County Dublin
DUBLIN

Irish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Children's Health Ireland @ Temple Street
Department of Haematology

ISRAEL

ISRAEL
PETAH TIKVA

Israelian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Schneider Children's Medical Center of Israel
Pediatric Hematology Unit

ITALIA

LIGURIA
GENOVA

Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

LIGURIA
GENOVA

Financiado por um membro do IRDiRCTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

TOSCANA
FIRENZE

SCNIR: Italian severe chronic neutropenia registry - contributes to the SCN international registry
Azienda Ospedaliera Universitaria Anna Meyer
D.A.I. Oncoematologia

ITALIA

VENETO
VERONA

Italian Registry for patients with Shwachman Diamond Syndrome
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica

MARROCOS

Rabat
RABAT

Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale

NORUEGA

Østlandet
OSLO

Norwegian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Oslo Universitetssykehus HF, Rikshospitalet
Barne- og ungdomsklinikken

NORUEGA

Østlandet
OSLO

Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser

PAISES BAIXOS

Utrecht
UTRECHT

Dutch severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Hematologie

POLONIA

Wroclaw
WROCLAW

Polish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Ponadregionalne Centrum Onkologii Dzieciecej PRZYLADEK NADZIEI
Klinika Transplantacji Szpiku, Onkologii i Hematologii Dzieciecej

PORTUGAL

CENTRO
COIMBRA

REINO UNIDO

Greater London
LONDON

English severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
University College London Hospitals, NHS Foundation Trust
Haematology and oncology department

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

The National Chronic Granulomatous Disease Registry
The Great North Children's Hospital, Royal Victoria Infirmary
Sir James Spence Institute of Child Health

REINO UNIDO

West Yorkshire
LEEDS

REPUBLICA CHECA

Hradec Kralove
HRADEC KRÁLOVÉ

Czech severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Fakultní nemocnice Hradec Králové - CHU Hradec Králové
Oddeleni klinicke hematolgie - Department of clinical hematology

SERBIA

Serbia
BELGRADE

SUECIA

Region Skåne
LUND

C2base: Mutation registry for C2 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C5base: Mutation registry for C5 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C6base: Mutation registry for C6 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C7base: Mutation registry for C7 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C8Bbase: Mutation registry for C8B deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C9base: Mutation registry for C9 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

CTSCbase: Mutation registry for Papillon-Lefevre syndrome
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

ELA2base: Mutation registry for Cyclic and congenital neutropenia
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

MPObase: Mutation registry for Myeloperoxidase deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C1QAbase: Mutation registry for C1QA polypeptide deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C1QBbase: Mutation registry for C1QB polypeptide deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C1QCbase: Mutation registry for C1QC polypeptide deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

C1Sbase: Mutation registry for C1s deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

CD59base: Mutation registry for CD59 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

CFDbase: Mutation registry for Factor D deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Stockholm
HUDDINGE

TURQUIA

TURKEY
ANKARA

Turkish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Ankara University - Faculty of medicine
Department of Pediatric Immunology-Allergy

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

PORTUGAL

NORTE
PORTO

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

SUECIA

Region Skåne
LUND

AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

GFI1base: Mutation registry for SCN and NI-CINA
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

MAPBPIPbase: Mutation registry for Endosomal adaptor protein p14 deficiency
Lund University
Department of Experimental Medical Science

ALEMANHA

Rheinland-Pfalz
MAINZ

German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System, Member of IACR and ENCR)
Institut für Medizinische Biometrie, Epidemiologie und Informatik (IMBEI)
Deutsches Kinderkrebsregister am IMBEI

SUECIA

Region Skåne
LUND

HAX1base: Mutation registry for Severe congenital neutropenia (Kostmann disease)
Lund University
Department of Experimental Medical Science

Redes de registos e biobancos

ITALIA

LIGURIA
GENOVA

EUROFEVER: PReS European network of registries for autoinflammatoy diseases in childhood
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie
  • ALEMANHA

    Niedersachsen
    HANNOVER

    SCNIR: Severe Chronic Neutropenia International Registry
  • Medizinische Hochschule Hannover
  • SCNIR - Europazentrale