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Projetos de investigação
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
Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
ALEMANHA
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
ALEMANHA
Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
ALEMANHA
Niedersachsen
GÖTTINGEN
Elucidating the pathogenesis of Kabuki syndrome and a possible molecular genetic link between the two malformation syndromes CHARGE and Kabuki
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
ALEMANHA
Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
ALEMANHA
Nordrhein-Westfalen
AACHEN
Identification of molecular causes of human growth retardation in patients with features of Silver-Russell syndrome
Universitätsklinikum Aachen
Institut für Humangenetik
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
ALEMANHA
Rheinland-Pfalz
MAINZ
TIC-PEA: Telemedical Interdisciplinary Care for Patients with Esophageal Atresia
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie
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
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
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
Alberta
EDMONTON
Autonomic 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
CANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
ESPANHA
Andalucía
SEVILLA
Biomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción
ESPANHA
Baleares
PALMA DE MALLORCA
Identification of the signaling pathways that allow the correction of congenital heart disease "in utero" in a natural way. Bases for prenatal therapy
Hospital Universitario Son Espases
Unidad de Diagnostico Molecular y Genética Clinica
ESPANHA
Cataluña
SABADELL
Effect of growth hormone treatment on brain connectivity and the structure of areas related to muscle tone in adults with Prader-Willi syndrome
Corporación Sanitaria Parc Taulí. Hospital de Sabadell
Servicio de endocrinología y nutrición
ESPANHA
Galicia
VIGO
Molecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
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
Genetic epidemiology of complex diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
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
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Signaling pathways regulating oligodendrocyte development and function
Institution: Information not provided - US
FRANCA
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
FRANCA
NOUVELLE AQUITAINE
BORDEAUX
Communication in Prader-Willi syndrome: Study of emotional control related to behavioral disorders, their daily repercussions and examination of innovative therapies
Université Victor Segalen Bordeaux 2
Laboratoire de Psychologie (EA4139)
ITALIA
FRIULI VENEZIA GIULIA
TRIESTE
miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
ITALIA
LAZIO
FIUMICINO
Prader-Willi syndrome: genetic, metabolic and endocrine functional neuroanatomy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia
ITALIA
LAZIO
ROMA
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIA
LAZIO
ROMA
Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica
ITALIA
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
LOMBARDIA
CUSANO MILANINO
Advanced biotechnologies for diagnosis of rare genetic diseases with multiple pathogenetic mechanisms
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
JAPAO
JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics
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
Study aiming at elucidation of the pathoiogy of multiple congenital anomaly syndrome by utilizing diseases- specific iPSCs and development of novel treatment methods
Keio University School of Medicine
JAPAO
JAPAN
TOKYO
Exploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology
JAPAO
JAPAN
TOKYO
Study of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology
JAPAO
JAPAN
TOKYO
Providing evidence for the integrated physical, psychological, and social support of adolescents and young adults (AYA) with intractable diseases by focusing on 22q11.2 deletion syndrome as the model
The University of Tokyo Hospital
Department of Neuropsychiatry
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
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
REINO UNIDO
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
SUECIA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SUICA
Suisse Alémanique
BASEL
Pharmacological strategies to rescue RyR1 expression in congenital myopathies
Universitätsspital Basel
Department of Biomedicine
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
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
REINO UNIDO
Hampshire
SOUTHAMPTON
Imprinting Disorders Finding Out Why (observational clinical study, mutation search - PLAGL1, ZFP57 and IGF2 genes) and genotype-phenotype correlation)
Faculty of Medicine - University of Southampton
Human Genetics
Projetos de investigação multicêntricos
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- 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
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- UMC Utrecht - Universitair Medisch Centrum Utrecht
- Section Genetics
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Department of Health
ALEMANHA
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANCA
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: European network of reference for rare paediatric neurological diseases
ITALIA
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
PAISES BAIXOS
Gelderland
NIJMEGEN
EURO-MRX: European mental retardation consortium
PAISES BAIXOS
Utrecht
UTRECHT
CantuTreat: Sulfonylurea drugs to treat Cantú syndrome
REINO UNIDO
Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health
REINO UNIDO
Greater London
LONDON