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151 Resultado(s)

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

Projetos de investigação

CANADA

Ontario
OTTAWA, ONTARIO

Financiado por um membro do IRDiRCDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCInvolvement of the ribosomal protein RPL13 in bone growth
Faculté de médecine de Nantes
Physiopathologie et pharmacologie cellulaire et moléculaire

REINO UNIDO

Essex
LONDON

Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics

ALEMANHA

Baden-Württemberg
ULM

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCTREAT-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

Financiado por um membro do IRDiRCCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCGeNeRARe: 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

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Financiado por um membro do IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

AUSTRIA

TIROL
INNSBRUCK

Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie

AUSTRIA

WIEN
ADDRESS: 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

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

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

Financiado por um membro do IRDiRCCellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Ontario
KINGSTON

Financiado por um membro do IRDiRCIIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium - CA
Queen's University
Department of Biomedical and Molecular Sciences

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCPathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

CANADA

Ontario
TORONTO

ESPANHA

Cataluña
BARCELONA

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCComprehensive 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

Madrid
MADRID

Financiado por um membro do IRDiRCEvaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

ESPANHA

País Vasco
BARAKALDO

Financiado por um membro do IRDiRCNew 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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTargeting tumors with nf1 loss
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBmp inhibitors to treat fibrodysplasia ossificans progressiva
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCIn vivo gene targeting to treat inherited bone disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInnate immune regulation of stem cells in bone formation
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCollagen-related diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCComponents and kinetics in exocytosis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDevelopmental studies in the skeletal dysplasias
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic bone disorders-autosomal recessive oi
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular studies in the skeletal dysplasias
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 1: the role of wnt1 signaling in osteogenesis imperfecta
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHeritable disorders of connective tissue
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

FINLANDIA

Finland
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

Financiado por um membro do IRDiRCBioCaps: 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

Financiado por um membro do IRDiRCNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

CENTRE-VAL DE LOIRE
ORLÉANS

Financiado por um membro do IRDiRCFirst 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

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

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

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)

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

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

Financiado por um membro do IRDiRCA novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare

JAPAO

JAPAN
AICHI

JAPAO

JAPAN
HIROSHIMA

Financiado por um membro do IRDiRCDevelopment of anti-mineralization drug
Hiroshima University Graduate School of Biomedical and Health Sciences

JAPAO

JAPAN
KYOTO

Financiado por um membro do IRDiRCEstablishment 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

Financiado por um membro do IRDiRCDevelopment of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University

JAPAO

JAPAN
TOKYO

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment of Novel ALK2 Inhibitor for FOP
Graduate School of Medicine, The University of Tokyo

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment 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
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

Financiado por um membro do IRDiRCNormalization of the vasculature to prevent heterotopic ossification in Fibrodysplasia ossificans progressiva - NL
LUMC - Leids Universitair Medisch Centrum
Afdeling Cel en Chemische Biologie

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

Bayern
ERLANGEN

Identification and characterization of the pathogenetic interactions in ciliary chondrodysplasias
Humangenetisches Institut am Universitätsklinikum Erlangen
Humangenetisches Institut

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

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCThe role of Glypican-6 in Recessive Omodysplasia
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute

ESPANHA

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic epidemiology of complex diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRegulation of gastric and osteoclast acidification by snx10
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCTargeting 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

ITALIA

ABRUZZO
L'AQUILA

Financiado por um membro do IRDiRCNew therapeutic approaches to osteopetrosis
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALIA

LIGURIA
GENOVA

REINO UNIDO

Greater London
LONDON

Financiado por um membro do IRDiRCWhat 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

ESPANHA

Asturias
OVIEDO

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHormonal 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

Financiado por um membro do IRDiRCX-linked hypophosphatemia: from pathological mechanisms of mineralization to treatments for skeletal manifestations
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496

Projetos de investigação multicêntricos