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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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Role of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US
FRANCA
PAYS DE LA LOIRE
NANTES
Involvement of the ribosomal protein RPL13 in bone growth
Faculté de médecine de Nantes
Physiopathologie et pharmacologie cellulaire et moléculaire
ITALIA
LAZIO
ROMA
Analysis of molecular profile of human craniosynostosis as a paradigmatic model of altered osteogenesis: identification of the molecular pathogenesis aiming to explore the discovery of new diagnostic markers and therapeutic targets
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. di Neurochirurgia Infantile
ITALIA
LAZIO
ROMA
Analysis of molecular profile of human craniosynostosis as a paradigmatic model of altered osteogenesis: identification of the molecular pathogenesis aiming to explore the discovery of new diagnostic markers and therapeutic targets
Università Cattolica del Sacro Cuore
Istituto di Anatomia Umana e Biologia Cellulare
NORUEGA
Østlandet
OSLO
Genetics of craniosynostosis
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser
REINO UNIDO
Essex
LONDON
Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics
REINO UNIDO
Lothian
EDINBURGH
Identification of genes for Microcephalic Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome and Meier-Gorlin syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit
ALEMANHA
Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
ALEMANHA
Bayern
MÜNCHEN
TREAT-HGPS: Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models (partner no 4)
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München
ALEMANHA
Berlin
BERLIN
CORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung
ALEMANHA
Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
ALEMANHA
Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
ALEMANHA
Saarland
HOMBURG
Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie
ALEMANHA
Sachsen
LEIPZIG
High-throughput mutation analysis for known and novel single-gene causes of kidney stones and related disorders
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
AUSTRIA
TIROL
INNSBRUCK
Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
ACHieve: A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia - AT
Institution: Information not provided - AT
AUSTRIA
WIEN
WIEN
LIAISE: The Impact of Achondroplasia on Quality of Life, Healthcare Resource Use, Clinical, Socio-economic and Psychosocial State of the Individual - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Pädiatrische Pulmologie, Allergologie und Endokrinologie
AUSTRIA
WIEN
WIEN
Endothelial senescence in progeria
Medizinische Universität Wien
Institut für Medizinische Chemie und Pathobiochemie
BELGICA
OOST-VLAANDEREN
GENT
Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Center for Medical Genetics Gent
Centrum voor Medische Genetica - UZ Gent
BELGICA
OOST-VLAANDEREN
GENT
Designing an integrated platform for the development of more precise medicine in Heritable Thoracic Aortic Disease
Center for Medical Genetics Gent
Centrum voor Medische Genetica - UZ Gent
BELGICA
VLAAMS BRABANT
LEUVEN
Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven
CANADA
Alberta
CALGARY
Investigating the Effects of Mutation in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Calgary Molecular Diagnostic Laboratory
CANADA
Alberta
CALGARY
Investigating the Effects of Mutation in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Department of Medical Genetics
CANADA
Colombie-Britannique
VANCOUVER
Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes
University of British Columbia
CFRI - Child and Family Research Institute
CANADA
Colombie-Britannique
VANCOUVER
Cellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute
CANADA
Ontario
KINGSTON
IIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium - CA
Queen's University
Department of Biomedical and Molecular Sciences
CANADA
Ontario
TORONTO
Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute
ESPANHA
Cataluña
BARCELONA
Lipodystrophy and sarcopenia in Hutchinson-Gilford progeria syndrome: mechanisms and role in disease progression
Universitat Pompeu Fabra. Campus del Mar
Grupo de Biología Celular
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
Lipodystrophy and sarcopenia in Hutchinson-Gilford progeria syndrome: mechanisms and role in disease progression
CNIC - Centro Nacional de Investigaciones Cardiovasculares
Fisiopatología cardiovascular molecular y genética
ESPANHA
País Vasco
BARAKALDO
New concept for the treatment of osteogenesis imperfecta: a pharmacological approach
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en células madre y terapia celular
ESTADOS UNIDOS
South Dakota
SIOUX FALLS
The cellular functions of Notch signaling that prevent the renal cysts associated with the Alagille Syndrome and Hadju-Cheney Syndrome
Sanford Research
Surendran Lab
ESTADOS UNIDOS
South Dakota
SIOUX FALLS
Cellular and molecular mechanisms by which aberrant Notch signaling causes cystic kidney disease
Sanford Research
Surendran Lab
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Targeting tumors with nf1 loss
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Development of bone morphogenetic protein inhibitors to treat blood and bone disorders
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Identification of small molecule that act on gsp; the etiologic mutation responsible for fibrous dysplasia/mccune-albright syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Bmp inhibitors to treat fibrodysplasia ossificans progressiva
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
Hutchinson-gilford progeria syndrome--a model for the genetics of aging
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular studies of malformations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
In vivo gene targeting to treat inherited bone disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Innate immune regulation of stem cells in bone formation
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Accessory membrane and intracellular mediators in bone cell mechanotransduction
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Intersection of upregulated bmp signaling & cellular mechanotransduction in fibrodysplasia ossificans progressiva (fop)
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Marfan aortic embryologic origin influences mir-29b regulators and targets
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The function of fkbp10 in osteogenesis imperfecta and bruck syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Pathogenesis and treatment of nomid; dira and other autoinflammatory diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular and signaling mechanisms of peripheral nerve sheath tumorigenesis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Social competence in youth with neurofibromatosis type 1
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Collagen-related diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Components and kinetics in exocytosis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Developmental studies in the skeletal dysplasias
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic bone disorders-autosomal recessive oi
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular studies in the skeletal dysplasias
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 1. proly 3-hydroxylase (p3h) complex and matrix cell signaling defects in
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 1: the role of wnt1 signaling in osteogenesis imperfecta
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 2. fkbp10 chaperone complex and trafficking and organelle dysfunction in
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 2: the role of the hsp47/fkbp65 chaperone complex in osteogenesis imperfecta
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 3: collagen post-translational modification and cross-linking in oi
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 3. collagen post-translational modification and crosslinking in human an
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Heritable disorders of connective tissue
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
High-definition infrared micro-spectroscopic imaging of biomaterials
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
Clinical and genetic characteristics of early-onset osteoporosis
Folkhälsan
Folkhälsan Research Center
FINLANDIA
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
FINLANDIA
Finland
TURKU
Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine
FRANCA
AUVERGNE-RHONE-ALPES
BRON
Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANCA
AUVERGNE-RHONE-ALPES
MULHOUSE
BioCaps: Programmed drug release by rolled-up biopolymer capsules - FR
Université de Haute-Alsace (UHA) - Campus Illberg
Institut de Science des Matériaux de Mulhouse (IS2M) - UMR7361 CNRS / UHA
FRANCA
AUVERGNE-RHONE-ALPES
PRAGUE
Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCA
CENTRE-VAL DE LOIRE
ORLÉANS
First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)
Equipe signalisation cellulaire et neurofibromatose
FRANCA
ILE-DE-FRANCE
PARIS
Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires
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
FRANCA
ILE-DE-FRANCE
PARIS
Phenotype-genotype study in osteogenesis imperfecta, search for genetic variants involved in growth, bone resorption and fracture risk - COL1A genes diagnostic analysis validation
Hôpital Lariboisière
Os et Cartilages
FRANCA
ILE-DE-FRANCE
PARIS
Regulatory networks governing the diversity of craniofacial muscles
Institut Pasteur
FRANCA
ILE-DE-FRANCE
PARIS
Schwartz-Jampel syndrome and perlecan deficiency: test of new chemical therapeutic approaches on patients cells and study of physiopathological mechanisms in murine model
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
FRANCA
ILE-DE-FRANCE
PARIS
Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"
FRANCA
NORMANDIE
CAEN
Genetic lesions of the GS alpha protein (GNAS1) in Albright osteodystrophy and pseudohypoparathyroïdism type 1A and 1B
Faculté de médecine de Caen
Mobilités : Attention, Orientation et Chronobiologie (COMETE)
ITALIA
ABRUZZO
L'AQUILA
Transfer strategy microparticles for the treatment of osteoporosis-induced deficits in RANKL (Receptor Activator of NF-kB Ligand)
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo
ITALIA
EMILIA ROMAGNA
BOLOGNA
Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALIA
LAZIO
ROMA
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIA
LAZIO
ROMA
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
A.R. Genetica e Malattie Rare
ITALIA
LOMBARDIA
MILANO
A novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare
JAPAO
JAPAN
AICHI
Development of novel therapeutic modalities for compromised neuromuscular signal transmission and skeletal muscle excitation
Nagoya University Graduate School of Medicine
Division of Neurogenetics
JAPAO
JAPAN
HIROSHIMA
Development of anti-mineralization drug
Hiroshima University Graduate School of Biomedical and Health Sciences
JAPAO
JAPAN
KYOTO
Establishment of disease models, analysis of pathomechanism and drug discovery for achondroplasia
Center for iPS Cell Research and Application, Kyoto University
Department of Cell Growth and Differentiation
JAPAO
JAPAN
KYOTO
Development of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University
JAPAO
JAPAN
NAGASAKI
Drug Screening and development of rapid diagnostic technique for the DNA methylation abnormality due to the mutation in histone modification enzymes
Atomic Bomb Disease Institute, Nagasaki University
Department of Human Genetics
JAPAO
JAPAN
TOKYO
Elucidation of mechanisms of heterotopic ossification in fibrodysplasia ossificans progressiva considering immunological responses
Graduate School of Medicine, The University of Tokyo
Department of Osteoimmunology
JAPAO
JAPAN
TOKYO
Development of Novel ALK2 Inhibitor for FOP
Graduate School of Medicine, The University of Tokyo
JAPAO
JAPAN
TOKYO
Fundamental study for the development of a therapeutic strategy for Osteogenesis imperfecta using orally available egg yolk-derived peptides
Graduate School of Medicine, The University of Tokyo
JAPAO
JAPAN
TOKYO
Development of a novel therapy for achondroplasia with anti-FGF2 aptamer
RIBOMIC Inc.
Research and Development Division
NORUEGA
Østlandet
NESODDTANGEN
The Norwegian Adult Achondroplasia Study
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORUEGA
Østlandet
NESODDTANGEN
Physical form and acitivity habits in adults with achondroplasia
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORUEGA
Østlandet
NESODDTANGEN
The Norwegian Marfan Syndrome Study part 2: Reinvestigation after 10 years of adults with presumed Marfan syndrome
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORUEGA
Østlandet
OSLO
Cardiovascular complications, craniofacial aberrations, impaired breathing during sleep, sleep distruption, and fatigue in adults with verified Marfan syndrome
Lovisenberg Diakonale Sykehus AS
Kirurgisk klinikk
NORUEGA
Østlandet
OSLO
Cardiovascular complications, craniofacial aberrations, impaired breathing during sleep, sleep distruption, and fatigue in adults with verified Marfan syndrome
Lovisenberg Diakonale Sykehus AS
TAKO-senteret Nasjonalt kompetansesenter for oral helse ved sjeldne diagnoser
PAISES BAIXOS
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
PAISES BAIXOS
Zuid-Holland
LEIDEN
Normalization of the vasculature to prevent heterotopic ossification in Fibrodysplasia ossificans progressiva - NL
LUMC - Leids Universitair Medisch Centrum
Afdeling Cel en Chemische Biologie
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
Obstructive sleep apnea in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
Brain anomalies in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
Genetic causes of craniofacial anomalies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
Disturbed breathing in craniofacial disorders
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
Cerebral blood flow in relation to intracranial pressure in craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PORTUGAL
CENTRO
ADDRESS: NOT PROVIDED - PT
Understanding how membrane ether-phospholipids regulate neuron development and function to mediate neuropathophysiology of RCDP
Institution: Information not provided - PT
SUECIA
Region Stockholm
HUDDINGE
Genetic mechanisms in progeria
Karolinska Institutet - Huddinge
Department of Biosciences and Nutrition
SUECIA
Region Västra Götaland
GÖTEBORG
Targeting the CAAX protein processing enzymes in the treatment of progeria
Göteborg University
Department of Molecular and Clinical Medicine
SUICA
Suisse Romande
GENÈVE
Non-cell-autonomous circadian regulation of brain function
UNIGE
Département de Génétique et Evolution
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
ERLANGEN
Identification and characterization of the pathogenetic interactions in ciliary chondrodysplasias
Humangenetisches Institut am Universitätsklinikum Erlangen
Humangenetisches Institut
ALEMANHA
Bayern
WÜRZBURG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik
ALEMANHA
Bayern
WÜRZBURG
Observational Clinical Study of Muenke Syndrome: Cognitive Function, Development, and Hearing in Patients with Muenke Syndrome
Universitätsklinikum Würzburg
Sektion für Pädiatrische Neurochirurgie
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
Berlin
BERLIN
Analysis of structural and non-coding variants in patients with limb malformations
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik
ALEMANHA
Berlin
BERLIN
CLC Cl- channels and transporters in basic cellular processes and pathological states
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport
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
Ontario
TORONTO
The role of Glypican-6 in Recessive Omodysplasia
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute
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
Cataluña
BARCELONA
Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana
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
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
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
Mechanistic and therapeutic studies of autosomal dominant osteopetrosis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Regulation of gastric and osteoclast acidification by snx10
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic disorders of immunodeficiency and inflammatory disease
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: from skull shape to cell activity in coronal craniosynostosis
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
Project II: genomic approaches to coronal nonsyndromic craniosynostosis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project III: systems biology of bone in coronal nonsyndromic craniosynostosis
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
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Targeting the vitamin D receptor for the treatment of rare diseases induced by calcitriosis
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Génomique fonctionnelle et cancer
FRANCA
NOUVELLE AQUITAINE
BORDEAUX
Research for one gene involved in Goldenhar syndrome
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
ITALIA
ABRUZZO
L'AQUILA
New therapeutic approaches to osteopetrosis
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo
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
ITALIA
LIGURIA
GENOVA
Functional and structural studies of human CLC chloride proteins involved in genetic diseases
Consiglio Nazionale delle Ricerche
Istituto di Biofisica
ITALIA
VENETO
ZELARINO
Towards an innovative therapy of ectrodactyly ectodermal dysplasia clefting syndrome using allele specific RNA silencing
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare
ITALIA
VENETO
ZELARINO
Advanced therapy medicinal products for the treatment of ocular defects in Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare
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
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
Metopic suture synostosis (trigonocephaly): prenatal detection, brain functions and optimal treatment
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PORTUGAL
SUL
LISBOA
O estudo de mutações relacionadas com o Síndroma Antley-Bixler na oxireductase do citocromo P450: polimorfismo do CYPOR e o complexo enzimático do citocromo P450.
Centro de Investigação em Genética Molecular Humana
REINO UNIDO
Greater London
LONDON
What dose of vitamin D is required to achieve target serum 25-hydroxyvitamin D levels in children?
Kings College School of Medicine
Guy's and St Thomas NHS Foundation Trust
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
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
ESPANHA
Asturias
OVIEDO
Optimization of treatment in X-linked hypophosphatemia. Effects on growth, epiphyseal cartilage and bone in mouse Hyp
Hospital Universitario Central de Asturias
Servicio de Pediatría
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular and cellular determinants of enthesopathy in x-linked hypophosphatemia
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Hormonal and molecular etiology of skeletal abnormalities in xlh
Institution: Information not provided - US
FRANCA
AUVERGNE-RHONE-ALPES
GRENOBLE
Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie
FRANCA
ILE-DE-FRANCE
MONTROUGE
X-linked hypophosphatemia: from pathological mechanisms of mineralization to treatments for skeletal manifestations
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496
FRANCA
ILE-DE-FRANCE
PARIS
spEJCificity: Characterization of pre-EJC factors and their role in cell fate determination - FR
ENS - École Normale Supérieure
Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024
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
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
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Queen's University
- Department of Biomedical and Molecular Sciences
- Institut de Biologie et Chimie des Protéines
- LBTI - Laboratoire de Biologie Tissulaire et Ingénierie thérapeutique
- Université de Haute-Alsace (UHA) - Campus Illberg
- Institut de Science des Matériaux de Mulhouse (IS2M) - UMR7361 CNRS / UHA
- Hôpitaux Universitaires Henri Mondor
- Centre d'Investigation Clinique
- CHU Paris - Hôpital Robert Debré
- Equipe "Physiopathologie et neuroprotection des atteintes du cerveau en développement"
- CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
- Thérapie cellulaire en pathologie cardiovasculaire
- CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
- Service de cardiologie
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- Centre Méditerranéen de Médecine Moléculaire
- Istituto Ortopedico Rizzoli - Ospedale
- Struttura Complessa Malattie Rare Scheletriche
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Dipartimento di Medicina Pediatrica
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- UMC Utrecht - Universitair Medisch Centrum Utrecht
- Section Genetics
- Department of Health
- 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
- Institution : Information not provided - FI
- 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
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- ENS - École Normale Supérieure
- Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ALEMANHA
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
ALEMANHA
Niedersachsen
GÖTTINGEN
CRANIRARE-2: an integrated clinical and scientific approach for craniofacial malformations
REINO UNIDO
Tyne & Wear
NEWCASTLE UPON TYNE
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases
ALEMANHA
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
CANADA
Ontario
KINGSTON
IIH-ECC: Idiopathic Infantile Hypercalcemia: European-Canadian Consortium
FRANCA
AUVERGNE-RHONE-ALPES
LYON
ELAST-AGE: targeting the elastic tissues ageing to improve the quality of ageing (FINISHED)
FRANCA
AUVERGNE-RHONE-ALPES
MULHOUSE
BioCaps: Programmed drug release by rolled-up biopolymer capsules
FRANCA
ILE-DE-FRANCE
CRÉTEIL
NF-France Network
FRANCA
ILE-DE-FRANCE
PARIS
MicroGol : Implication of the golgi apparatus secretory functions in the developpement Of postnatal microcephaly and intellectual disabilities
FRANCA
ILE-DE-FRANCE
PARIS
MITRAL
FRANCA
ILE-DE-FRANCE
PARIS
French research network on Marfan syndrome and nonsyndromic related diseases
FRANCA
ILE-DE-FRANCE
PARIS
Réseau sur les neurofibromatoses
FRANCA
ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - improving health care and social support for patients and family affected by severe genodermatoses
FRANCA
PROVENCE-ALPES-COTE D'AZUR
NICE
GENECELLTHER: Development of biotherapies for growth plate disorders (TERMINATED)
ITALIA
EMILIA ROMAGNA
BOLOGNA
Ma.Tr.OC: Identification of molecular therapeutic targets and diagnostic/prognostic biomarkers for Malignant Transformation of Osteochondromas
ITALIA
LAZIO
ROMA
OSTEOPETR: new genes and therapeutic approaches to osteopetrosis
ITALIA
LOMBARDIA
PAVIA
GIMS: Interdisciplinary Team for Marfan Syndrome
PAISES BAIXOS
Utrecht
UTRECHT
CantuTreat: Sulfonylurea drugs to treat Cantú syndrome
REINO UNIDO
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
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
FINLANDIA
Finland
ADDRESS : NOT PROVIDED - FI
LADOMICS: Multi-omics approaches for discovery of new disease mechanisms of LAD-I and LAD-III immunodeficiencies
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
ITALIA
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
FRANCA
ILE-DE-FRANCE
PARIS