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Progetti di ricerca
GERMANIA
Schleswig-Holstein
LÜBECK
DSDCare: Standardized healthcare-center-centered care of DSD over the life span
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Hormonzentrum für Kinder und Jugendliche - Lübeck
SVIZZERA
Suisse Romande
LAUSANNE
Improving Cleft Lip/Palate management of care through genomic medicine
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme
SVIZZERA
Suisse Romande
LAUSANNE
The Neuroendocrine Control of Human Reproduction II
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme
FRANCIA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Survey of the interest of ovarian cortex cryoconservation of girls affected by Turner syndrome: search for clinical and hormonal critera to select patients and caryotypic correlations
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Identification of small molecule that act on gsp; the etiologic mutation responsible for fibrous dysplasia/mccune-albright syndrome
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Investigation of x chromosome haploinsufficiency on germ cell development using t
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Gender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Deciphering the functional role of mkrn3 in puberty and reproduction
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Regulation of vertebrate gonad formation by fibroblast growth factor signaling
Institution: Information not provided - US
SVIZZERA
Suisse Alémanique
BERN
SF1next - Understanding the clinical and genetic complexity of human steroidogenic factor 1 (SF-1/NR5A1) variants in sex and steroid biology
Inselspital Universitätsspital
Pädiatrische Endokrinologie und Diabetologie
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
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Food practices socialization of children with Prader-Willi syndrom
Institution: Information not provided - FR
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
NOUVELLE AQUITAINE
PESSAC
Adrenal deficiency : clinical study
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Unité d'Endocrinologie et oncologie endocrinienne
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Proof-of-concept viral-mediated Necdin gene therapy to cure respiratory alterations in Prader-Willi Syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Necdin gene therapy to restore normal breathing in a mouse model of 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
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
ITALIA
FRIULI VENEZIA GIULIA
TRIESTE
miRNA nella sindrome di Prader-Willi
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
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
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
LOMBARDIA
CUSANO MILANINO
Trasferimento delle nuove tecnologie nella diagnosi corrente di malattie genetiche rare a meccanismi eziopatogenetici multipli
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
REGNO UNITO; GRAN BRETAGNA
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
SPAGNA
Cataluña
ESPLUGUES DE LLOBREGAT
The gut microbiome as a therapeutic target in Prader-Willi syndrome: effects on metabolic health and social behavior
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
SPAGNA
Galicia
VIGO
Molecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
The regulation of pubertal onset and reproductive development
Institution: Information not provided - US
SVEZIA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)
SVEZIA
Region Örebro län
ÖREBRO
Study on cognitive hearing sciences (Linnéus HEAD) in Ushers, Alström syndrome, CHARGE and other syndromic deafness disorders
Örebro University Hospital
Department of Audiology/ Audiological Clinical Research Centre
REGNO UNITO; GRAN BRETAGNA
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
Progetti di ricerca multicentrici
- Universitätsklinikum Aachen
- Institut für Humangenetik
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Department of Health
GERMANIA
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
ITALIA
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
REGNO UNITO; GRAN BRETAGNA
Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON