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Progetti di ricerca

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Pilot study to validate the genetic diagnosis of premature ovarian faillure by exome sequencing
CHU Paris-Sud - Hôpital de Bicêtre
Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction

FRANCIA

ILE-DE-FRANCE
PARIS

NGS analysis of breakpoints in chromosomal rearrangements in women with premature ovarian failure
CHU Paris Est - Hôpital Saint-Antoine
Service d'Endocrinologie, Diabétologie et Médecine de la reproduction

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a 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

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a 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

GERMANIA

Baden-Württemberg
HEIDELBERG

Characterization of SHOX functions in bone formation: Identification of target genes and interacting proteins
Institut für Humangenetik am Universitätsklinikum Heidelberg
Abteilung Molekulare Humangenetik

GERMANIA

Bayern
WÜRZBURG

Causes and consequences of genetic instability in humans
Universität Würzburg - Biozentrum
Institut für Humangenetik

GERMANIA

Hessen
FRANKFURT AM MAIN

GERMANIA

Hessen
FRANKFURT AM MAIN

Susceptibility to infection in patients with Ataxia-telangiectasia and response to therapy with subcutaneous Immunoglobulin: A prospective observational study
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Pädiatrische Allergologie, Pneumologie und Mukoviszidose

GIAPPONE

JAPAN
ADDRESS : NOT PROVIDED - JP

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCProgramma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCDisplasia Fibrosa: Rotta verso la terapia tracciata da inattesi meccanismi rivelati dai primi modelli murini esistenti
Sapienza Università di Roma - Facoltà di Medicina e Chirurgia
Dipartimento di Medicina Molecolare

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCDeterminanti della neurodegenerazione nell'atassia telangiectasia
Fondazione IRCCS Istituto Nazionale dei Tumori
S.S. Meccanismi Molecolari di Controllo del Ciclo Cellulare

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCSbilanciato rapporto tra eccitazione e inibizione nell'atassia telangectasia e prospettive d'intervento terapeutico
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCToward improved therapy for classic galactosemia
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCA animal model for studies of galactosemia
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Alberta
EDMONTON

Finanziato da un ente associato a IRDiRCAutonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

CANADA

Alberta
EDMONTON

Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

CANADA

Québec
MONTRÉAL

Finanziato da un ente associato a IRDiRCClinical, molecular and pathophysiological characterization of POL III-related leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCGenomic editing for treating hemoglobin diseases
University of Helsinki
Stem Cells and Metabolism Research Program

FRANCIA

GRAND-EST
STRASBOURG

Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112

FRANCIA

ILE-DE-FRANCE
PARIS

Non-invasive prenatal diagnosis of sickle cell anemia by next generation sequencing (NGS)
CHU Paris - Hôpital Robert Debré
UF de Génétique Moléculaire

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCGenetic basis of various phenotypes segregating in a large inbred family
Hôpital Necker-Enfants Malades
Centre d'Etudes des Déficits Immunitaires (CEDI)

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCGETH: Genome Editing approaches to reactivate gamma-globin for the Treatment of ß-Hemoglobinopathies
IMAGINE - Institut des Maladies Génétiques
Equipe "Chromatine et régulation des gènes au cours du développement"

FRANCIA

NOUVELLE AQUITAINE
PESSAC

Adrenal deficiency : clinical study
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Unité d'Endocrinologie et oncologie endocrinienne

FRANCIA

OUTRE-MER
POINTE-À-PITRE

Finanziato da un ente associato a IRDiRCSickle cell disease, neurocognitive disorders and social participation
Université des Antilles et de la Guyane
Laboratoire ACTES (Adaptations au Climat Tropical, Exercice et Santé)

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCPostnatal development of the brain oxytocin system and Prader-Willi syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249

GERMANIA

Berlin
BERLIN

Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik

GERMANIA

Hessen
GIEßEN

RBM28: comprehensive analysis of its role in human disease and neuroepithelial tissue development
Justus-Liebig-Universität Gießen
Institut für Biochemie - AG Prof. Dr. A. Bindereif

GERMANIA

Niedersachsen
GÖTTINGEN

Molecular genetic analysis of CHARGE syndrome
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

GERMANIA

Niedersachsen
GÖTTINGEN

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCExploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

ITALIA

CAMPANIA
NAPOLI

EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALIA

LAZIO
FIUMICINO

La sindrome di Prader-Willi: aspetti genetici, neuroanatomo funzionali ed endocrino metabolici
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LOMBARDIA
CUSANO MILANINO

ITALIA

SARDEGNA
MONSERRATO

Finanziato da un ente associato a IRDiRCValidazione del gene delta globinico umano quale target terapeutico per la beta talassemia e l'anemia falciforme
IRGB CNR - Istituto di Ricerca Genetica e Biomedica
Gruppo di Ricerca per la Talassemia

PORTOGALLO

SUL
LISBOA

Development and validation of vaso-occlusion early predictors in mendelian model of vascular disease
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Genética

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

PWS: Prader-Willi Syndrom: a model linking gene expression, obesity and mental health (coordination)
Developmental Psychiatry - University of Cambridge
Learning Disabilities Research Group

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

The relationship of BBS (Bardet-Biedl Syndrome) proteins to the Wnt pathways
GOSH NHS Foundatin Trust
Molecular Medicine Unit

REGNO UNITO; GRAN BRETAGNA

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPreclinical innovation
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic epidemiology of complex diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic epidemiology of complex traits
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCInsights into sickle cell trait and sickle cell disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRed cell biology
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCCilium-associated structures in rod cells
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFunction of c8orf37 in photoreceptors
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCEpigenetic therapy and prader-willi syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPhysiology; psychology; and genetics of obesity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThe regulation of pubertal onset and reproductive development
Institution: Information not provided - US

SVEZIA

Stockholms läns landsting
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

REGNO UNITO; GRAN BRETAGNA

Hampshire
SOUTHAMPTON

SPAGNA

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

SPAGNA

País Vasco
VITORIA-GASTEIZ

Finanziato da un ente associato a IRDiRCImprinting disorders: low grade mosaicism or new candidate genes? - ES
HUA - Hospital Universitario Araba. Sede Txagorritxu
Laboratorio de Genética Molecular

Progetti di ricerca multicentrici