Orphanet: Search by disease/gene
x

Search for a research project

* (*) mandatory field

64 Result(s)

Sort by

Funded by an IRDiRC member =

Research projects

SPAIN

Madrid
MADRID

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : 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

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

AUSTRIA

STEIERMARK
GRAZ

AUSTRIA

TIROL
INNSBRUCK

Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie

BELGIUM

VLAAMS BRABANT
LEUVEN

Molecular and functional pathogenesis in NF1 and related diseases
University Hospitals Leuven - Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberMechanisms of tumor predisposition in colorectal cancer syndromes stratified by mismatch repair status
University of Helsinki
Department of Medical and Clinical Genetics

FINLAND

Finland
TURKU

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberStudy Congenital Giant Naevus: Psychology, Info-Com, Health, Transdisciplinarity, Ethics
Université Victor Segalen Bordeaux 2
EA4139 - Laboratoire de Psychologie « Santé et qualité de vie »

IRELAND

County Dublin
DUBLIN

ITALY

EMILIA ROMAGNA
BOLOGNA

Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Expression profiling studies in tumors by using DNA microarrays
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberAdvancing Care of Rare/Intractable Adrenal Diseases in Japan Study
National Hospital Organization Kyoto Medical Center
Clinical Research Institute for Endocrine and Metabolic Diseases

NETHERLANDS

Zuid-Holland
LEIDEN

Mosaic APC mutations in patients with mild polyposis phenotypes
LUMC - Leids Universitair Medisch Centrum
Afdeling Klinische Genetica

PORTUGAL

NORTE
PORTO

Tumour spectrum in Hereditary Diffuse Gastric Cancer
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Genética de Tumores

PORTUGAL

NORTE
PORTO

Study of SDH alterations in GIST
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

PORTUGAL

NORTE
PORTO

Study of mTOR pathway in GISTs
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

SPAIN

Cataluña
BADALONA

Funded by an IRDiRC memberPhysiological role of neurofibromin in Schwann cell and study of the progression to malignancy in neurofibromatosis type 1
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Unidad de Diagnóstico Genético del Cáncer Hereditario

UNITED STATES

South Dakota
SIOUX FALLS

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting tumors with nf1 loss
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberMesaCapp: Mesalamine for Colorectal Cancer Prevention in Lynch Syndrome - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Gastroenterologie und Hepatologie

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberMesaCapp: Mesalamine for Colorectal Cancer Prevention in Lynch Syndrome - AT
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Chirurgie

NETHERLANDS

Zuid-Holland
LEIDEN

PORTUGAL

SUL
LISBOA

Prognostic Signatures in Colorectal Cancer (PSCC).
Faculdade de Medicina da Universidade de Lisboa
Unidade de Investigação em Oncologia Clínica Aplicada

SPAIN

Comunidad Valenciana
ELCHE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberExome sequencing in diverse populations in colorado & oregon
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular genetics of adrenocortical tumors and related disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular genetics of endocrine tumors and related disorders
Institution: Information not provided - US

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Medullary carcinoma screening and study of genotype in familial cases
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
U.O.S. di Endocrinologia

Multicentric Research projects