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120 Resultado(s)

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

Registos e biobancos

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCNational Cancer-predisposing syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

PORTUGAL

CENTRO
COIMBRA

Registo de Pacientes Oncológico Regional - Zona Centro (ROR-Centro)
Instituto Português de Oncologia de Coimbra de Francisco Gentil, EPE
Registo Oncológico Regional - Zona Centro

PORTUGAL

ILHAS
AÇORES

Registo Oncológico da Região Autónoma dos Açores (RORA)
Centro de Oncologia dos Açores Prof Doutor José Conde
Registo Oncológico Regional dos Açores

PORTUGAL

NORTE
PORTO

RORENO - Registo Oncológico Regional do Norte
Instituto Português de Oncologia do Porto, EPE / IPOFG - CRO Porto
Registo Oncológico Regional do Norte

PORTUGAL

NORTE
VILA NOVA DE GAIA

Registo Oncológico de Vila Nova de Gaia (ROG)
Centro Hospitalar de Vila Nova de Gaia
Registo de Cancro (ROG)

ALEMANHA

Baden-Württemberg
FREIBURG

ALEMANHA

Hessen
MARBURG

German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie

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

AUSTRIA

STEIERMARK
GRAZ

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

AUSTRIA

TIROL
INNSBRUCK

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

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

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

Hovedstaden
COPENHAGEN

Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics

DINAMARCA

Sjælland
COPENHAGEN

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

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

Asturias
OVIEDO

Registro MEN: Spanish registry of multiple endocrine neoplasia, pheochromocitomas and paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición

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

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

Castilla - León
SALAMANCA

National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN

ESPANHA

Comunidad Valenciana
VALENCIA

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

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

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

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

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

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

AUVERGNE-RHONE-ALPES
PIERRE-BENITE

French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)
CHU de Lyon HCL - GH Sud
Service de médecine interne et pathologie vasculaire

FRANCA

CENTRE-VAL DE LOIRE
TOURS

NF-France: genotype/phenotype database on neurofibromatosis 1
CHRU de Tours - Hôpital Clocheville
Pôle Enfants - Neuropédiatrie et handicaps

FRANCA

GRAND-EST
VANDOEUVRE-LÈS-NANCY

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

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

MUTP53LOAD: Mutant p53 Loss Of Activity Database
CLCC Institut Curie
Laboratoire de Génotoxicologie des Tumeurs

HUNGRIA

Dél-Dunántúl
PECS

Neurofibromatosis type 1 biobank
Clinical Center - University of Pécs
Department of Medical Genetics

HUNGRIA

Közép-Magyarország
BUDAPEST

National NF Register
Nemzeti NF Regiszter
NF Magyarorszag

ITALIA

EMILIA ROMAGNA
BOLOGNA

Italian Li-Fraumeni syndrome registry
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

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

LIGURIA
GENOVA

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

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

VENETO
PADOVA

North-east Italy registry of neurofibromatosis
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica

MARROCOS

Rabat
RABAT

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

NORUEGA

Østlandet
OSLO

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

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

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

SUECIA

Region Skåne
LUND

CD19base: Mutation registry for CD19 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

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

SUECIA

Region Skåne
LUND

ICOSbase: Mutation registry for ICOS deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

SUECIA

Region Skåne
LUND

TNFRSF13Bbase: Mutation registry for TACI deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

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

ALEMANHA

Baden-Württemberg
FREIBURG

Von Hippel-Lindau registry -terminated-
Universitätsklinikum Freiburg
Klinik für Innere Medizin IV - Nephrologie und Allgemeinmedizin

ALEMANHA

Baden-Württemberg
FREIBURG

National registry for Blackfan-Diamond disease
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

ALEMANHA

Baden-Württemberg
FREIBURG

Hilda biobank for children at the University Medical Center Freiburg - diagnostic and research on biomaterials of children and adolescents
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

ALEMANHA

Bayern
MÜNCHEN

ALEMANHA

Hamburg
HAMBURG

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

ALEMANHA

Hessen
FRANKFURT AM MAIN

Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

ALEMANHA

Niedersachsen
HANNOVER

German Fanconi anemia registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

ALEMANHA

Niedersachsen
MEPPEN

VHL-Biobank
Verein VHL (von Hippel-Lindau) betroffener Familien e.V.

ESPANHA

Cataluña
BELLATERRA

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

ESPANHA

Madrid
MADRID

Spanish Academy of Dermatology and Venereology (AEDV) / Rare Diseases Registry ISCIII: Registry of xeroderma pigmentoso
Academia Española de Dermatología y Venereología
Unidad de investigación de la Fundación Academia Española de Dermatología y Venereología

ESPANHA

Madrid
MADRID

Spanish Registry of Patients with Fanconi Anemia
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

ESTADOS UNIDOS

New York
NEW YORK

IFAR: International Fanconi Anemia patient Registry
The Rockefeller University
Laboratory of Genome Maintenance

FRANCA

AUVERGNE-RHONE-ALPES
BRON

UMD MEN1 (multiple endocrine neoplasis I) mutations database
CHU de Lyon HCL - GH Est
Unité Médicale de Génétique des Cancers et des Maladies Multifactorielles

FRANCA

GRAND-EST
STRASBOURG

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

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

CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Cancer et génome: bioinformatique, biostatistiques et épidémiologie d'un système complexe

FRANCA

ILE-DE-FRANCE
PARIS

UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

FRANCA

OCCITANIE
MONTPELLIER

UMD VHL (von Hippel-Lindau tumor suppressor) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

HUNGRIA

Dél-Dunántúl
PECS

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

ITALIA

CAMPANIA
NAPOLI

RIAF: Fanconi's Anemia Italian Registry
P.S.I. "Elena d'Aosta"
U.O.C. Servizio di Genetica

ITALIA

LAZIO
ROMA

RIAT: Ataxia teleangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica

ITALIA

LAZIO
ROMA

V-RIAT: variant Ataxia telangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica

ITALIA

LAZIO
ROMA

Lymphomas Database
Azienda Ospedaliera Sant'Andrea

ITALIA

TOSCANA
FIRENZE

Italian register multiple endocrine neoplasia
Azienda Ospedaliero Universitaria Careggi
S.O.D. Malattie del Metabolismo Minerale ed Osseo

ITALIA

VENETO
VERONA

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

PAISES BAIXOS

Gelderland
NIJMEGEN

Financiado por um membro do IRDiRCERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

PAISES BAIXOS

Noord-Holland
AMSTERDAM

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

PAISES BAIXOS

Zuid-Holland
LEIDEN

European Parathyroid Tumor Registry
LUMC - Leids Universitair Medisch Centrum
Afdeling Pathologie

REINO UNIDO

Cambridgeshire
CAMBRIDGE

Familial Ovarian Cancer Register (FOCR)
Strangeways Research Laboratory
Department of Oncology

REINO UNIDO

East Sussex
BRIGHTON

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

REINO UNIDO

Greater London
LONDON

Family History of Bowel Cancer Registry
Department of Gastroenterology
West Middlesex University Hospital

REINO UNIDO

North Yorkshire
YORK

UK & Ireland Fanconi Anaemia Registry
The University of York
Epidemiology and Genetics Unit

REINO UNIDO

Nottinghamshire
NOTTINGHAM

Ataxia-Telangiectasia International Registry (A-T Society)
William Whitehouse
Pediatric Neurology Department

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

International A-T Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

SUECIA

Region Skåne
LUND

BLMbase: Mutation registry for Bloom Syndrome
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

CASP8base: Mutation registry for Caspase 8 deficiency
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
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

SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS)
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

BIRC4base: Mutation registry for X-linked lymphoproliferative syndrome
Lund University
Department of Experimental Medical Science

SUECIA

Region Skåne
LUND

NRASbase: Mutation registry for Autoimmune lymphoproliferative syndrome type IV
Lund University
Department of Experimental Medical Science

SUECIA

Region Stockholm
STOCKHOLM

Swedish Polyposis Registry
Astrid Lindgren Children's Hospital - Karolinska
Gastro Center

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 Alémanique
BERN

SwissNET - Registry for Neuroendocrine Tumours in Switzerland
University Hospital Inselspital
SwissNET - Registry for Neuroendocrine Tumours in Switzerland

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

GPOH-MET Registry: Registry for children and adolescents with malignant endocrine tumour
Universitätsklinikum Magdeburg A.ö.R
Universitätskinderklinik

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
SCHAERBEEK (BRUXELLES)

Belgian familial adenomatous polyposis registry
FAPA
Familial Adenomatous Polyposis Association A.S.B.L./V.Z.W.

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
SCHAERBEEK (BRUXELLES)

Belgian familial Lynch syndrome registry
FAPA
Familial Adenomatous Polyposis Association A.S.B.L./V.Z.W.

FRANCA

BOURGOGNE-FRANCHE-COMTE
DIJON

Breast and other gynecological cancers registry of Côte-d'Or
CLCC Georges François Leclerc
Centre de Recherche Clinique (CRC)

FRANCA

GRAND-EST
STRASBOURG

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

FRANCA

ILE-DE-FRANCE
PARIS

UMD APC (adenomatous polyposis coli) mutations database
CLCC Institut Curie
Laboratoire de Génotoxicologie des Tumeurs

FRANCA

ILE-DE-FRANCE
SAINT-CLOUD

UMD BRCA1 (Breast cancer 1, early onset) mutations database
CLCC Hôpital René Huguenin - Institut Curie
Laboratoire d'oncogénétique

FRANCA

ILE-DE-FRANCE
SAINT-CLOUD

UMD BRCA2 (Breast cancer 2, early onset) mutations database
CLCC Hôpital René Huguenin - Institut Curie
Laboratoire d'oncogénétique

FRANCA

ILE-DE-FRANCE
SAINT-CLOUD

GENEPSO: French BRCA1 and 2 carrier cohort study
CLCC Hôpital René Huguenin - Institut Curie
Service d'Epidémiologie Clinique et d'Information Médicale, Oncogénétique Clinique

FRANCA

OCCITANIE
MONTPELLIER

UMD TGFBR2 (transforming growth factor, beta receptor II) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Collection of micro-RNA from normal and tumoral tissues of patients with colon rectal cancer
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Laboratorio di Ricerca U.O.C. di Gastroenterologia

Redes de registos e biobancos

ESPANHA

Madrid
MADRID

SpainRDR: Spanish Rare Disease Registries Research Network (patient registries)
  • ISCIII - Instituto de Salud Carlos III
  • Instituto de Investigación de Enfermedades Raras
  • ITALIA

    LIGURIA
    GENOVA

    TELETHON NETWORK OF GENETIC BIOBANKS
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche
  • ALEMANHA

    Niedersachsen
    HANNOVER

    BMFS: Network for Congenital Bone Marrow Failure Syndromes (patient registry)
  • Medizinische Hochschule Hannover
  • Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung