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Projetos de investigação
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
REINO UNIDO
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
ALEMANHA
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
ALEMANHA
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
ALEMANHA
Baden-Württemberg
TÜBINGEN
ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie
ALEMANHA
Bayern
WÜRZBURG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik
ALEMANHA
Berlin
ADDRESS: NOT PROVIDED - DE
ERA-CVD - VARIATION: New RNA therapies for the treatment of cardiomyopathies caused by LMNA mutations
Institution: Information not provided - DE
ALEMANHA
Hessen
LANGEN
Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie
CANADA
Québec
MONTRÉAL
Molecular mechanisms of CdGAP, a negative regulator of the oncogenic small GTPases Rac1 and Cdc42
McGill University - Dentistry Building
Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology
ESPANHA
Andalucía
MÁLAGA
Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica
ESPANHA
Andalucía
SEVILLA
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica
ESPANHA
Aragón
ZARAGOZA
Redefining the Cornelia de Lange Spectrum by the integration of new clinical, genomic, transcriptomic and metabolic data
Universidad de Zaragoza. Facultad de Medicina
Laboratorio de Genética Clínica y Genómica Funcional
ESPANHA
Comunidad Valenciana
VALENCIA
Comprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia
ESPANHA
Madrid
MADRID
Effects of the non-peptide agonist of the thrombopoietin receptor (Eltrombopag) in the hematopoiesis of patients with Fanconi anemia
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
ESPANHA
Madrid
MADRID
Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition
Hospital Universitario Ramón y Cajal
Servicio de Genética
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cardiac interaction networks as determinants of transcriptional specificity
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Fa ddr pathway in germline integrity
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Nipbl, cohesin and related structural birth defects
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
RAPADILINO syndrome: clinical and genetic study
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Dissecting the mechanisms by which distinct muscle cell types arise in posterior cardiopharyngeal mesoderm.
Institution: Information not provided - FR
FRANCA
AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCA
ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique
IRLANDA
County Dublin
DUBLIN
Good vigilance practice in pregnancy: A multistakeholder approach to optimising the effectiveness of risk minimisation measures to prevent harms from teratogenic medicines
Royal College of Surgeons of Ireland
Division of Population Health Sciences
ITALIA
CAMPANIA
NAPOLI
Designing therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl
ITALIA
EMILIA ROMAGNA
MODENA
Analysis of the roles of PBX1 and EMX2 in the development of the scapular and pelvic regions of the limbs
Università degli Studi di Modena e Reggio Emilia
Dipartimento di Biologia animale
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
SUECIA
Region Stockholm
HUDDINGE
Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
SUECIA
Region Stockholm
STOCKHOLM
Molecular and functional studies of Scc2 and Scc4 in DNA repair, Gene regulation and Genome integrity in Cornelia de Lange syndrome
Karolinska Institutet - Solna
Department of Cell and Molecular Biology
SUECIA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SUECIA
Region Västra Götaland
GÖTEBORG
Molecular and functional studies of neuromuscular disorders related to the sarcomeric proteins
Göteborg University
Department of pathology
ALEMANHA
Berlin
BERLIN
Molecular genetics of autosomal-dominant hypertension with brachydactyly type E
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems
ALEMANHA
Berlin
BERLIN
Epigenetic gene and ncRNA regulation in isolated forms of Brachydactyly Type E (BDE)
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems
ALEMANHA
Sachsen
DRESDEN
EXOSC2 zebrafish model and exosom : analysis of EXOSC2 in the development of HK syndrome
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology
FINLANDIA
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCA
ILE-DE-FRANCE
PARIS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Service de génétique
FRANCA
ILE-DE-FRANCE
PARIS
Modeling Rubinstein Taybi Syndrome Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies.
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216
PAISES BAIXOS
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
Projetos de investigação multicêntricos
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Universitätsklinikum Schleswig-Holstein - Campus Lübeck
- Institut für Humangenetik
- CHU Sainte-Justine
- Département de pédiatrie
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- Hôpital Necker-Enfants Malades
- Néphropathies héréditaires et rein en développement
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ALEMANHA
Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
ALEMANHA
Schleswig-Holstein
LÜBECK
TARGET-CdLS: Targeting unknowns in causes and phenotypes of the Cornelia de Lange Syndrome
CANADA
Québec
MONTRÉAL
CoHEART : Improving care for Cohesinopathies, from heart phenotypes to novel therapies
FRANCA
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: European network of reference for rare paediatric neurological diseases
FRANCA
ILE-DE-FRANCE
PARIS
Néphropathies kystiques du foetus et syndromes apparentés
FRANCA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques
ITALIA
CAMPANIA
NAPOLI