Hledat výzkumný projekt
57 Výsledků
Ukončené výzkumné projekty = Financováno členem konsorcia IRDiRC =
Člen ERN =
Výzkumné projekty

BOURGOGNE-FRANCHE-COMTE
DIJON
Diagnostic des réarrangements chromosomiques et des mutations par séquençage haut-débit
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

Thüringen
JENA
ChromoSomics - Database: Sammlung und Charakterisierung von Fällen mit kleinen überzähligen Markerchromosomen zum Zweck einer Genoptyp-Phänotyp-Korrelation
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik

LAZIO
ROMA
Migliorare gli standard di qualità dei laboratori italiani che svolgono test genetici per le malattie rare
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

Region Stockholm
STOCKHOLM
Chromosomal anomaly
Karolinska Universitetssjukhuset - Solna
Department of Clinical Genetics (Klinisk genetik)

Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program

Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Europaweites Netzwerk zum Outcome von angeborenen Fehlbildungen (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Cataluña
BARCELONA
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

Cataluña
BARCELONA
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Hospital Clínic de Barcelona
Servicio de Inmunologia

Cataluña
BARCELONA
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

Cataluña
BARCELONA
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Hospital de la Santa Creu i Sant Pau
Servicio de Genética

Cataluña
L'HOSPITALET DE LLOBREGAT
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

Madrid
MADRID
Identificación de nuevos genes causantes de enfermedades raras en pacientes pediátricos, identificación de dianas farmacológicas, y descubrimiento de fármacos, los pasos para una medicina personalizada
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine

Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Ontario
TORONTO
Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Participatory process to understand and improve augmentative and alternative communication of people with a rare neurogenetic disorders
Institution: Information not provided - FR

BOURGOGNE-FRANCHE-COMTE
DIJON
Détection prénatale non invasive d'aneuploïdies sur plasma maternel par séquençage haut débit ciblé
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

LIGURIA
GENOVA
Correzione della aberrante omeostasi dello ione Cloro e della trasmissione GABAergica nella Sindrome di Down per ottenere nuovi approcci terapeutici
Istituto Italiano di Tecnologia
Dipartimento di Neuroscience e Tecnologie del Cervello

PUGLIA
BARI
Regolazione genica e metabolica dell'equilibrio redox nella sindrome di Down: ruolo del sistema ubiquitina-proteasoma, del metabolismo energetico mitocondriale, dei miRNAs ed effetto protettivo di composti naturali ad azione antiossidante
Consiglio Nazionale delle Ricerche
Istituto di Biomembrane e Bioenergetica

Comunidad Valenciana
VALENCIA
Perfiles transcriptómicos y secretómicos tras cultivo extendido de embriones humanos euploides y aneuploides para el cromosoma 21
Hospital Universitario y Politécnico La Fe
Fundación para la Investigación del Hospital Universitari La Fe

Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US

Québec
MONTRÉAL
Les bases génétiques des malformations atypiques dans le syndrome de gènes contigus : le cas de 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie

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

LOMBARDIA
MILANO
Modulazione genetica e farmacologica del recettore mGlu5 per migliorare i difetti neurologici nella sindrome di Phelan-McDermid
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze

Cataluña
BARCELONA
Detección de factores genéticos estructurales modificadores del fenotipo en una población con defectos congénitos
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca

Suisse Romande
GENÈVE
The Swiss 22q11DS longitudinal cohort: understanding psychosis proneness through negative symptoms
UNIGE Université de Genève
Service Médico-Pédagogique Département de Psychiatrie

Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Neurophysiological biomarkers of cognition in dup15 syndrome: from mouse models to patients
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

VLAAMS BRABANT
LEUVEN
Identification de thérapies ciblant le métabolisme lipidique et la myélinisation pour la maladie de Charcot-Marie-Tooth de type 1A en utilisant des cellules de Schwann dérivées de patients
UZ Leuven - Campus Gasthuisberg
Ludo Van Den Bosch Lab- VIB-KU Leuven Center for Brain & Disease Research

Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute

ILE-DE-FRANCE
PARIS
Recherche des gènes modulateurs du phénotype dans le Charcot-Marie-Tooth 1A
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
CMTHER: correction du phénotype CMT1A par des molécules modulant l'expression du gène PMP22 : rôle de l'acide ascorbique et d'autres molécules
Université de médecine Aix-Marseille Université
Thérapie des Maladies Génétiques (EA 1263)

Közép-Magyarország
BUDAPEST
Herediter neuropathiák genetikai epidemiológiai vizsgálata
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

LIGURIA
GENOVA
Studio in vitro di mutazioni nelle cellule di Schwann: dalla patogenesi alla terapia
IRCCS Ospedale Policlinico San Martino - IST - DINOGMI
Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili

LOMBARDIA
ROZZANO
Dallo studio dei meccanismi molecolari patogenetici alla base delle sindromi dovute a microduplicazioni e microdelezioni del cromosoma 7q11.23 alla scoperta di trattamenti terapeutici
IRCCS Istituto Clinico Humanitas
Istituto Clinico Humanitas

Østlandet
SIGGERUD
Erfaringer fra personer med Smith-Magenis syndrom - En Q-metodologistudie
Frambu kompetansesenter for sjeldne diagnoser

Østlandet
SIGGERUD
Språklige ferdigheter hos barn og unge med 5p-syndrom
Frambu kompetansesenter for sjeldne diagnoser

Suisse Romande
FRIBOURG
The Differential Roles of Positive Emotions and Emotion Regulation for Socio-Emotional Processes in Developmental Disabilities: Insights for Future Interventions
Universität Freiburg
Heilpädagogisches Institut

Washington
ADDRESS: NOT PROVIDED - US
Charcot-marie-tooth (cmt) disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Identification of activators of pmp22 expression for treatment of cmt1a
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Folding; misfolding; and function of pmp22
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
Multicentrické výzkumné projekty
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Universitätsklinikum Aachen
- Institut für Humangenetik
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit

Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems

Nordrhein-Westfalen
AACHEN
EUCID.net: Europäisches Netzwerk für angeborene Imprinting-Erkrankungen

CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis

LOMBARDIA
MILANO