M.‐P. Audrézet - Concepedia

Concepedia

Author

M.‐P. Audrézet

Also Known As

M P Audrezet, M P Audrézet, M. Audrezet, M. Audrézet, M. P. Audrezet, M. P. Audrézet, M.-P. Audrézet, M.P Audrézet, M.P. Audrezet, M.P. Audrézet

75

Publications

1.5K

Citations

16

H-Index

42

Concepts

All Affiliations

Inserm Centre Hospitalier Régional Universitaire de Brest Génétique, Génomique Fonctionnelle et Biotechnologies Université de Bretagne Occidentale Centre Hospitalier Universitaire de Rennes

MA

About

M.‐P. Audrézet is an author at Inserm specializing in medicine, pathology, and diagnosis.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	1.1K
2	Public Health	2	2	136
3	Natural Sciences	1	1	133
4	Epidemiology	1	1	17
5	Gastroenterology	1	1	119

M.‐P. Audrézet

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16

Publications

1.5K

Citations

15

H-Index

	Year	Citations
Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease Binu Porath, Vladimir G. Gainullin, Émilie Cornec-Le Gall, The American Journal of Human Genetics HepatologyDisease MechanismMedicineLiver PhysiologyInherited Metabolic Disease	2016	448
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis Claude Férec, Odile Raguénès, Rémi Salomon, Journal of Medical Genetics	1999	199
Detection of over 98% cystic fibrosis mutations in a Celtic population Claude Férec, M.‐P. Audrézet, Bernard Mercier, Nature Genetics Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderGeneticsPathogenesis	1992	184
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling Cédric Le Maréchal, M.‐P. Audrézet, I. Quéré, Human Genetics Molecular Diagnostic TechniquesFibrosisGenetic DisorderMedicineGenetics	2001	133
A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients Emmanuelle Masson, Jian‐Min Chen, M.‐P. Audrézet, PLoS ONE GeneticsImmunologyGastroenterologyGenetic EpidemiologyPathology	2013	119
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis Émilie Cornec-Le Gall, M.‐P. Audrézet, E. Renaudineau, American Journal of Kidney Diseases	2017	73
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy Bence Gunda, Manuèle Miné, Tibor Kovács, Journal of Neurology Col4a2 MutationNeurobiology Of DiseaseNeurological DisorderPathologyNeurology	2014	47
Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses Claude Férec, C. Verlingue, Philippe Parent, Human Genetics Neonatal ScreeningNewborn ScreeningNeonatal GenomicsPediatricsPathology	1995	44
The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study Pierre‐Régis Burgel, Isabelle Sermet‐Gaudelus, Emmanuelle Girodon, The Lancet Respiratory Medicine F508del Cftr VariantTranslational ResearchPulmonary FibrosisMedicineFrench Compassionate Programme	2024	36
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis Virginie Scotet, Marc De Braekeleer, M.‐P. Audrézet, Clinical Genetics	2001	33

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