Artykuły udostępnione publicznie: - Faivre LaurenceWięcej informacji
Niedostępne w żadnym miejscu: 28
Sprawdź
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
C Bertolotto, F Lesueur, S Giuliano, T Strub, M De Lichy, K Bille, P Dessen, ...
Nature 480 (7375), 94-98, 2011
Upoważnienia: National Institute of Health and Medical Research, France, Government of Spain
Sprawdź
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
S Benko, CT Gordon, D Mallet, R Sreenivasan, C Thauvin-Robinet, ...
Journal of medical genetics 48 (12), 825-830, 2011
Upoważnienia: National Institute of Health and Medical Research, France
Sprawdź
Reproductive and Hormonal Factors, and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers: Results from the International BRCA1/2 Carrier Cohort …
AC Antoniou, M Rookus, N Andrieu, R Brohet, J Chang-Claude, S Peock, ...
Cancer Epidemiology Biomarkers & Prevention 18 (2), 601-610, 2009
Upoważnienia: Cancer Research UK
Sprawdź
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
A Masurel-Paulet, E Haan, EM Thompson, C Goizet, C Thauvin-Robinet, ...
European journal of medical genetics 54 (1), 25-28, 2011
Upoważnienia: National Institute of Health and Medical Research, France
Sprawdź
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
D Lehalle, AL Mosca-Boidron, A Begtrup, O Boute-Benejean, P Charles, ...
Journal of medical genetics 54 (7), 479-488, 2017
Upoważnienia: National Institute for Health Research, UK, Wellcome Trust
Sprawdź
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
C Thauvin‐Robinet, S Thomas, M Sinico, B Aral, L Burglen, N Gigot, ...
Clinical Genetics 84 (1), 2013
Upoważnienia: Fondazione Telethon, Italy
Sprawdź
Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
ATG Chiu, SLC Pei, CCY Mak, GKC Leung, MHC Yu, SL Lee, M Vreeburg, ...
Clinical Genetics 93 (4), 880-890, 2018
Upoważnienia: National Health and Medical Research Council, Australia, National Institute …
Sprawdź
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
V Carmignac, S Nambot, D Lehalle, P Callier, S Moortgat, V Benoit, ...
Clinical Genetics 98 (1), 43-55, 2020
Upoważnienia: Canadian Institutes of Health Research, Genome Canada
Sprawdź
Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders
I Jéru, E Cochet, P Duquesnoy, V Hentgen, B Copin, MT Mitjavila‐Garcia, ...
Arthritis & Rheumatology 66 (9), 2621-2627, 2014
Upoważnienia: National Institute of Health and Medical Research, France
Sprawdź
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping
JS Amos, L Huang, J Thevenon, A Kariminedjad, CL Beaulieu, ...
Clinical genetics 91 (1), 92-99, 2017
Upoważnienia: Canadian Institutes of Health Research, Genome Canada
Sprawdź
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
P Garret, F Ebstein, G Delplancq, B Dozieres‐Puyravel, A Boughalem, ...
Clinical Genetics 97 (4), 567-575, 2020
Upoważnienia: German Research Foundation
Sprawdź
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features
S Moutton, AL Bruel, M Assoum, M Chevarin, E Sarrazin, C Goizet, ...
Clinical genetics 93 (6), 1172-1178, 2018
Upoważnienia: US National Institutes of Health
Sprawdź
Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus
P Kuentz, S Fraitag, M Gonzales, F Dhombres, J St‐Onge, Y Duffourd, ...
British Journal of Dermatology 176 (1), 204-208, 2017
Upoważnienia: US National Institutes of Health
Sprawdź
Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers
J Lecarpentier, C Nogues, E Mouret-Fourme, B Buecher, ...
Cancer epidemiology, biomarkers & prevention 24 (4), 698-707, 2015
Upoważnienia: National Institute of Health and Medical Research, France
Sprawdź
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
V Darmency-Stamboul, L Burglen, E Lopez, N Mejean, J Dean, B Franco, ...
European journal of medical genetics 56 (6), 301-308, 2013
Upoważnienia: Fondazione Telethon, Italy
Sprawdź
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: report of seven new cases
D Lehalle, R Colombo, M O'Grady, B Héron, N Houcinat, P Kuentz, ...
American Journal of Medical Genetics Part A 179 (9), 1756-1763, 2019
Upoważnienia: US National Institutes of Health
Sprawdź
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials
A Garde, L Guibaud, A Goldenberg, F Petit, R Dard, J Roume, ...
Clinical Genetics 99 (5), 650-661, 2021
Upoważnienia: Agence Nationale de la Recherche
Sprawdź
UQCRC2-related mitochondrial complex III deficiency, about 7 patients
C Bansept, P Gaignard, E Lebigot, D Eyer, G Delplancq, C Hoebeke, ...
Mitochondrion 68, 138-144, 2023
Upoważnienia: US National Institutes of Health
Sprawdź
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
L Faivre, JC Crépin, M Réda, S Nambot, V Carmignac, C Abadie, ...
Clinical Genetics 104 (5), 554-563, 2023
Upoważnienia: Agence Nationale de la Recherche
Sprawdź
ARLTS1, potential candidate gene in familial aggregation of hematological malignancies
WS Hamadou, S Besbes, R Mani, V Bourdon, YB Youssef, B Achour, ...
Bulletin du cancer 104 (2), 123-127, 2017
Upoważnienia: National Institute of Health and Medical Research, France
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