|
|
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
Patrick Edery
,
Charles Marcaillou
,
Mourad Sahbatou
,
Audrey Labalme
,
Joelle Chastang
et al.
Journal articles
hal-01017145v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Highlighting the impact of cascade carrier testing in cystic fibrosis families
Ingrid Duguépéroux
,
Carine L'Hostis
,
Marie-Pierre Audrézet
,
Gilles Rault
,
Irène Frachon
et al.
Journal of Cystic Fibrosis, 2016, 15 (4), pp.452-459
Journal articles
hal-02042301v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis
Chloé Sarnowski
,
Catherine Laprise
,
Giovanni Malerba
,
Miriam F. Moffatt
,
Marie-Hélène Dizier
et al.
Journal articles
hal-01872256v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Identification of targeted therapy for an aggressive subgroup of muscle-invasive bladder cancers
Thierry Lebret
,
Yann Neuzillet
,
Nadine Houédé
,
Sandra Rebouissou
,
Isabelle Bernard-Pierrot
et al.
Journal articles
hal-01904887v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
A Meta-Analysis of the Relationship between FGFR3 and TP53 Mutations in Bladder Cancer
Yann Neuzillet
,
Xavier Paoletti
,
Slah Ouerhani
,
Pierre Mongiat-Artus
,
Hany Soliman
et al.
Journal articles
hal-01358546v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia
Charline Ladroue
,
David Hoogewijs
,
Sophie Gad
,
Romain Carcenac
,
Federica Storti
et al.
Journal articles
inserm-01401555v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
Antonis Antoniou
,
Karoline Kuchenbaecker
,
Penny Soucy
,
Jonathan Beesley
,
Xiaoqing Chen
et al.
Journal articles
inserm-00681614v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
Florence Demenais
,
Patricia Margaritte-Jeannin
,
Kathleen Barnes
,
William O. C. M. Cookson
,
Janine Altmüller
et al.
Journal articles
inserm-02874534v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Genetic and Environmental Factors Influencing the Placental Growth Factor (PGF) Variation in Two Populations
R Sorice
,
D Ruggiero
,
T Nutile
,
M Aversano
,
L Husemoen
et al.
Journal articles
hal-03478564v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis.
Benoît Marin
,
Farid Boumédiène
,
Giancarlo Logroscino
,
Philippe Couratier
,
Marie-Claude Babron
et al.
International Journal of Epidemiology, 2016
Journal articles
hal-01320274v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
DNA methylation in glioblastoma: impact on gene expression and clinical outcome.
Amandine Etcheverry
,
Marc Aubry
,
Marie de Tayrac
,
Elodie Vauleon
,
Rachel Boniface
et al.
Journal articles
inserm-00663706v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Sandrine Vuillaumier-Barrot
,
Céline Bouchet-Séraphin
,
Malika Chelbi
,
Louise Devisme
,
Samuel Quentin
et al.
Journal articles
hal-01120423v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Detection of quantitative trait loci associated with alcohol-dependence: Use of model-free sib-pair method and combined segregation-linkage analysis based on regressive models
Gilles Durrieu
,
Flavie Meunier
,
Jeffrey R O'Connell
,
Maria Martinez
,
Florence Demenais
et al.
Genetic Epidemiology, 1999, 17, pp.145-150
Journal articles
hal-00906803v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors.
Rémi Kazma
,
Catherine Bonaïti-Pellié
,
Jill M. Norris
,
Emmanuelle Génin
Journal articles
inserm-00446027v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
Sylvie Bannwarth
,
Samira Ait-El-Mkadem
,
Annabelle Chaussenot
,
Emmanuelle Génin
,
Sandra Lacas-Gervais
et al.
Journal articles
hal-02108988v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
François Cartault
,
Patrick Munier
,
Edgar Benko
,
Isabelle Desguerre
,
Sylvain Hanein
et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012, 109 (13), pp.4980-4985. ⟨10.1073/pnas.1111596109⟩
Journal articles
hal-01285444v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families.
Emmanuelle Bouzigon
,
Marie-Hélène Dizier
,
Christine Krähenbühl
,
Arnaud Lemainque
,
Isabella Annesi-Maesano
et al.
Journal articles
hal-00595818v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Evidence for a locus in 1p31 region specifically linked to the co-morbidity of asthma and allergic rhinitis in the EGEA study.
Marie-Hélène Dizier
,
Emmanuelle Bouzigon
,
Michel Guilloud-Bataille
,
Emmanuelle C. Genin
,
Marie-Pierre Oryszczyn
et al.
Journal articles
hal-00595804v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Asthma and atopic dermatitis are associated with increased risk of clinical Plasmodium falciparum malaria
Magali Herrant
,
Cheikh Loucoubar
,
Hubert Bassène
,
Bronner P Gonçalves
,
Sabah Boufkhed
et al.
Journal articles
pasteur-02075958v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
Sylvie Bannwarth
,
Samira Ait-El-Mkadem
,
Annabelle Chaussenot
,
Emmanuelle Génin
,
Sandra Lacas-Gervais
et al.
Journal articles
hal-02108961v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Suzanne Lesage
,
Valérie Drouet
,
Elisa Majounie
,
Vincent Deramecourt
,
Maxime Jacoupy
et al.
Journal articles
hal-01289266v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Life course social mobility and risk of upper aerodigestive tract cancer in men
N. Schmeisser
,
D. I. Conway
,
P. A. Mckinney
,
A. D. Mcmahon
,
H. Pohlabeln
et al.
Journal articles
hal-00564465v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Catégorisation des glioblastomes : typologie et profilage du génome. [Classification of glioblastoma and genome profiling].
Marie de Tayrac
,
Jean Mosser
Journal articles
inserm-00522964v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
Suzanne Lesage
,
Etienne Patin
,
Christel Condroyer
,
Anne-Louise Leutenegger
,
Ebba Lohmann
et al.
Journal articles
inserm-00522011v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Ethic differences in the incidence of Amyotrophic Lateral Sclerosis: a meta-analysis of population-based studies.
Benoît Marin
,
Farid Boumédiène
,
Giancarlo Logroscino
,
Marie-Claude Babron
,
Anne-Louise Leutenegger
et al.
The American Academy of neurology 6th Annual Meeting, Apr 2015, Washington DC, United States. Neurology, 84 (14 (Supplément P4)), pp.151
Conference poster
hal-01224326v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Novel genes and insights in complete asthma remission: A genome-wide association study on clinical and complete asthma remission
J. Vonk
,
M. Nieuwenhuis
,
F. Dijk
,
A. Boudier
,
V. Siroux
et al.
Journal articles
inserm-03156815v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings.
Charlotte Mouden
,
Marie de Tayrac
,
Christèle Dubourg
,
Sophie Rose
,
Wilfrid Carré
et al.
Journal articles
hal-01116427v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
BRCA Share: A Collection of Clinical BRCA Gene Variants
Christophe Béroud
,
Stanley I Letovsky
,
Corey D Braastad
,
Sandrine M Caputo
,
Olivia Beaudoux
et al.
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1318-1328. ⟨10.1002/humu.23113⟩
Journal articles
hal-01670197v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy.
Emmanuelle Bouzigon
,
Paola Forabosco
,
Gerard H. Koppelman
,
William O. C. M. Cookson
,
Marie-Hélène Dizier
et al.
Journal articles
inserm-00748654v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
A prospective multicenter study on bladder cancer: the COBLAnCE cohort
Simone Benhamou
,
Julia Bonastre
,
Karine Groussard
,
François Radvanyi
,
Yves Allory
et al.
Journal articles
inserm-01391784v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|