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Structure: Internal structure identifier : 81477

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.
Science, 2011, 332 (6026), pp.240-3. ⟨10.1126/science.1202205⟩
Journal articles hal-01017145v1

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

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 of Allergy and Clinical Immunology, 2016, 138 (3), pp.748 - 753. ⟨10.1016/j.jaci.2015.12.1341⟩
Journal articles hal-01872256v1

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.
Molecular & Cellular Oncology, 2015, 2 (4), pp.e999507. ⟨10.1080/23723556.2014.999507⟩
Journal articles hal-01904887v1

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.
PLoS ONE, 2012, 7 (12), ⟨10.1371/journal.pone.0048993⟩
Journal articles hal-01358546v1
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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.
Haematologica, 2012, 97 (1), pp.9-14. ⟨10.3324/haematol.2011.044644⟩
Journal articles inserm-01401555v1
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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.
Breast Cancer Research, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩
Journal articles inserm-00681614v1

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.
Nature Genetics, 2018, 50 (1), pp.42-53. ⟨10.1038/s41588-017-0014-7⟩
Journal articles inserm-02874534v1
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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.
PLoS ONE, 2012, 7 (8), pp.e42537. ⟨10.1371/journal.pone.0042537⟩
Journal articles hal-03478564v1

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
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DNA methylation in glioblastoma: impact on gene expression and clinical outcome.

Amandine Etcheverry , Marc Aubry , Marie de Tayrac , Elodie Vauleon , Rachel Boniface et al.
BMC Genomics, 2010, 11 (1), pp.701. ⟨10.1186/1471-2164-11-701⟩
Journal articles inserm-00663706v1

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.
American Journal of Human Genetics, 2012, 91 (6), pp.1135-43. ⟨10.1016/j.ajhg.2012.10.009⟩
Journal articles hal-01120423v1

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
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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
European Journal of Human Genetics, 2010, 18 (1), pp.88-94. ⟨10.1038/ejhg.2009.119⟩
Journal articles inserm-00446027v1

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.
Brain - A Journal of Neurology , 2014, 137 (12), pp.e312-e312. ⟨10.1093/brain/awu267⟩
Journal articles hal-02108988v1
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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

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.
Human Molecular Genetics, 2004, 13 (24), pp.3103-13. ⟨10.1093/hmg/ddh340⟩
Journal articles hal-00595818v1

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.
Human Heredity, 2007, 63 (3-4), pp.162-7. ⟨10.1159/000099828⟩
Journal articles hal-00595804v1
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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.
BMJ Open, 2013, 3 (7), pp.e002835. ⟨10.1136/bmjopen-2013-002835⟩
Journal articles pasteur-02075958v1

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.
Brain - A Journal of Neurology , 2015, 138 (8), pp.e373-e373. ⟨10.1093/brain/awu385⟩
Journal articles hal-02108961v1
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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.
American Journal of Human Genetics, 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩
Journal articles hal-01289266v1
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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.
European Journal of Epidemiology, 2010, 25 (3), pp.173-182. ⟨10.1007/s10654-010-9429-5⟩
Journal articles hal-00564465v1
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Catégorisation des glioblastomes : typologie et profilage du génome. [Classification of glioblastoma and genome profiling].

Marie de Tayrac , Jean Mosser
Neurochirurgie, 2010, 56 (6), pp.464-6. ⟨10.1016/j.neuchi.2010.07.009⟩
Journal articles inserm-00522964v1
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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.
Human Molecular Genetics, 2010, 19 (10), pp.1998-2004. ⟨10.1093/hmg/ddq081⟩
Journal articles inserm-00522011v1

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
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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.
Clinical & Experimental Allergy, 2018, 48 (10), pp.1286-1296. ⟨10.1111/cea.13181⟩
Journal articles inserm-03156815v1

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings.

Charlotte Mouden , Marie de Tayrac , Christèle Dubourg , Sophie Rose , Wilfrid Carré et al.
PLoS ONE, 2015, 10 (2), pp.e0117418. ⟨10.1371/journal.pone.0117418⟩
Journal articles hal-01116427v1
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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
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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.
European Journal of Human Genetics, 2010, 18 (6), pp.700-6. ⟨10.1038/ejhg.2009.224⟩
Journal articles inserm-00748654v1
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A prospective multicenter study on bladder cancer: the COBLAnCE cohort

Simone Benhamou , Julia Bonastre , Karine Groussard , François Radvanyi , Yves Allory et al.
BMC Cancer, 2015, 16 (1), pp.837. ⟨10.1186/s12885-016-2877-x⟩
Journal articles inserm-01391784v1