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Progetti di ricerca

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

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

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie

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

Rasopathies and fetal / perinatal deaths and implications for prenatal diagnosis
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique

FRANCIA

ILE-DE-FRANCE
PARIS

Influence of petri dish plastics on regulation of genome expression during AMP in mice
CHU Paris Centre - Hôpital Cochin, Site Port-Royal
Laboratoire de Biologie de la Reproduction

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCStudy of a mouse model of Meier-Gorlin Syndrome based on a mutation in the conserved BAH domain of ORC1
Institut Cochin (INSERM U 1016 - CNRS UMR 8104 - Paris Descartes UMR-S1016)
Equipe "Epigénétique, Réplication de l'ADN et Cancer"

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

Berlin
BERLIN

Developmental Disturbances in the Nervous System (SFB 665): Molecular pathways in forebrain development and holoprosencephaly
Max-Delbrück-Centrum für Molekulare Medizin
Molekulare Herz- Kreislaufforschung

GERMANIA

Niedersachsen
GÖTTINGEN

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

GERMANIA

Niedersachsen
GÖTTINGEN

GERMANIA

Nordrhein-Westfalen
AACHEN

GERMANIA

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

GIAPPONE

JAPAN
ADDRESS : NOT PROVIDED - JP

Finanziato da un ente associato a IRDiRCPathogenesis and novel therapeutic approarches in RASoapthies
Institution: Information not provided - JP

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

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCStudy of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

ITALIA

CAMPANIA
CASERTA

Finanziato da un ente associato a IRDiRCBasi molecolari della Sindrome di Beckwith-Wiedemann e della Sindrome di Silver-Russell
Università degli Studi della Campania
Dipartimento di Scienze Ambientali

ITALIA

CAMPANIA
NAPOLI

Patogenesi della Displasia facio digito genitale: il ruolo di FGD1 nella regolazione del trasporto di membrana
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

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

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCSindrome di DiGeorge: approcci terapeutici nel modello murino
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

Studio dell' associazione tra Sindrome di DiGeorge e sequenza displasia caudale in un neonato nato da madre diabetica
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALIA

LAZIO
ROMA

Caratterizzazione clinica e molecolare di sindromi genetiche con cardiopatie congenite
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

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

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCPrimary Prevention and Surveillance of Congenital Anomalies
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LOMBARDIA
CUSANO MILANINO

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

Greater London
LONDON

Genetic studies in Marshall-Smith Syndrome
GOSH NHS Foundatin Trust
Clinical and Molecular Genetics Unit

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

Genetic studies in Marshall-Smith Syndrome
University College London Hospitals, NHS Foundation Trust
Clinical Genetics

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCClinical and molecular studies of malformations
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 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

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCEpigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic modifiers of congenital heart disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMouse functional analysis of genes for congenital heart disease
Institution: Information 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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: 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

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

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