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Funded by an IRDiRC member =

    • DENMARK
    • Nordjylland
    • AALBORG
    • Evaluation of the clinical service provided in a Greek Department of Genetics, in the field of rare dysmorphic syndromes
    • Aarhus Universitetshospital - Aalborg
    • Department of clinical genetics
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Genetic and clinical study of Noonan syndrome linked to PTPN11 gene and genotype-phenotype correlations
    • CHU Paris - Hôpital Robert Debré
    • Unité fonctionnelle de génétique clinique
    • More details
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • SHP2NOONAN: Functional exploration of SHP2 mutations involved in Noonan and LEOPARD syndromes - Consequences in growth hormone resistance
    • CHU de Toulouse - Hôpital Purpan
    • Département lipoprotéines et médiateurs lipidiques
    • More details
    • GERMANY
    • Hamburg
    • HAMBURG
    • BIG-HEART: bench-to-beside integrated approach to familial hypertrophic cardiomyopathy: to the heart of the disease (partner)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Institut für Experimentelle und Klinische Pharmakologie
    • More details
    • GERMANY
    • Hamburg
    • HAMBURG
    • Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Familial hypertrophic cardiomyopathy (fHCM): functional characterization and protein and mRNA quantification of myosin mutants in cardiac and skeletal muscle biopsies from fHCM patients
    • Medizinische Hochschule Hannover
    • Abteilung Molekular- und Zellphysiologie
    • More details
    • GERMANY
    • Sachsen-Anhalt
    • MAGDEBURG
    • Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
    • Universitätsklinikum Magdeburg A.ö.R
    • Institut für Humangenetik
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Characterization of in vivo function played by mutated genes causing Noonan syndrome and related disorders, using the nematode C. elegans as an animal model
    • Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
    • Genetica Molecolare dei Nematodi
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Clinical and molecular characterization of genetic syndromes with congenital heart disease
    • IRCCS Ospedale Pediatrico Bambino Gesů
    • Struttura Semplice di Citogenetica e Genetica Molecolare
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Funded by an IRDiRC member
    • Molecular bases of Noonan syndrome and related disorders
    • ISS - Istituto Superiore di Sanitŕ
    • Dipartimento di Ematologia, Oncologia e Medicina Molecolare
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • NSEURONET: Network Europeo sulla Sindrome di Noonan e disturbi correlati (coordinatore)
    • ISS - Istituto Superiore di Sanitŕ
    • Dipartimento di Ematologia, Oncologia e Medicina Molecolare
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Clinical and molecular analysis of Noonan syndrome and related conditions
    • Istituto CSS-Mendel
    • Laboratorio Specializzato di Genetica Medica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Correlation between cardiac phenotype and gene mutations that regulate the cascade RAS/ MAPK syndromes neurocardiofaciocutanee
    • Sapienza Universitŕ di Roma - Facoltŕ di Medicina e Chirurgia
    • U.O.C. di Cardiologia Pediatrica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Genotype-phenotype correlations in Noonan syndrome
    • Sapienza Universitŕ di Roma - Facoltŕ di Medicina e Chirurgia
    • U.O.C. di Cardiologia Pediatrica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • A analysis strategy to identify genes implicated in Noonan and LEOPARD syndromes
    • Universitŕ degli Studi di Roma Tor Vergata
    • Dipartimento di Biologia
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Genotype-phenotype correlation in Noonan Syndrome
    • A.O. Cittŕ della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Struttura Semplice di Genetica
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Genotype-phenotype correlation in Noonan Syndrome
    • A.O. Cittŕ della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Struttura Semplice di Genetica
    • More details
    • ITALY
    • TOSCANA
    • FIRENZE
    • Alterations in contraction and relaxation properties of cardiac sarcomeres in familial hypertrophic cardiomyopathy (HCM): study at single myofibril level
    • Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
    • Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata
    • More details
    • ITALY
    • TOSCANA
    • FIRENZE
    • Funded by an IRDiRC member
    • Hypertrophic cardiomyopathy caused by mutations in the thin filament regulatory proteins of the sarcomere
    • Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
    • Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata
    • More details
    • LEBANON
    • Beyrouth
    • BEIRUT
    • Genetic causes of congenital heart diseases in the Lebanese population: screening for mutations in transcription factors implicated in heart development and cardiac function
    • American University of Beirut
    • Département de biochimie
    • More details
    • PORTUGAL
    • NORTE
    • PORTO
    • Integrated Micro-Nano-OPTO Fluidic systems for high-content diagnosis and studies of rare cancer cells
    • Instituto de Patologia e Imunologia Molecular da Universidade do Porto
    • Genética de Tumores
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Implication of the Ras oncogenes in the development of Costello and Noonan syndromes
    • Centro Nacional de Investigaciones Oncológicas (CNIO)
    • Grupo de Oncología Experimental
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Genomic, Epigenetic and Transcriptional Study of Tumours in Polymalformative Genetic Syndromes
    • Hospital Infantil Universitario la Paz
    • Unidad de Hemato-Oncologia y trasplante de Médula Ósea Pediátrica
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Genomic, Epigenetic and Transcriptional Study of Tumours in Polymalformative Genetic Syndromes
    • Hospital Universitario La Paz
    • Instituto de Genética Médica y Molecular
    • More details
    • SWEDEN
    • Västerbottens läns landsting
    • UMEĹ
    • Familial long QT syndrome and familial hypertrophic cardiomyopathy in Sweden: clinical, molecular, genetic and experimental studies
    • University Hospital of Umeĺ
    • Department of Public Health and Clinical Medicine
    • More details
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Identification of novel autosomal genes causing mental retardation
    • Universität Zürich
    • Institut für Medizinische Genetik
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Funded by an IRDiRC member
    • NIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
    • Addenbrooke's Hospital
    • Academic Department of Medical Genetics
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Funded by an IRDiRC member
    • NIHR BioResource - Rare Disease: SPEED - Specialist Pathology: Evaluating Exomes in Diagnostics
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • HINXTON
    • The Deciphering Developmental Disorders (the DDD study)
    • Wellcome Trust Sanger Institute
    • DECIPHER
    • More details
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Exploring the Genetics of Renal Developmental Disease
    • Royal Devon and Exeter Hospital - Wonford site
    • Department of Urology
    • More details
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • BIG-HEART: bench-to-beside integrated approach to familial hypertrophic cardiomyopathy: to the heart of the disease (coordination)
    • John Radcliffe Hospital
    • Department of Cardiovascular Medicine
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • NIPSIGEN - Clinical translation of non-invasive prenatal diagnosis (NIPD) for single gene disorders (Health Innovation Challenge Fund)
    • Birmingham Women's NHS Foundation Trust
    • Regional Genetics Unit
    • More details