Mariepierre Audrézet - Centre de Biogénétique, Centre Départemental de Transfusion Sanguine

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论文共 268 篇作者统计合作学者相似作者

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EPS6.02 Striking Evolution of Survival of Cystic Fibrosis Patients in Brittany (western France): an Analysis of the Last 50 Years by Birth Cohort

J. Derrien,C. L’Hostis,M.-P. Audrézet,S. Ramel,C. Belleguic,E. Deneuville, B. Arnouat,V. Storni,M.-R. Munck,I. Frachon,P. Vic, R. Bernard, C. Férec,V. Scotet

Journal of Cystic Fibrosis (2024): S50-S50

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#2613 Clinical Spectrum and Prognosis of the Atypical Polycystic Kidney Disease Caused by Monoallelic Loss-of-function IFT140 Variants

Nikola Zagorec, Alizée Calamel,Elisabet Ars,Albert Ong,Jan Halbritter,Marie-Pierre Audrezet, Vignesh-Guru Pillay,Yannick Le Meur,John Sayer, Genkyst Study Group,Emilie Cornec-Le Gall

Nephrology Dialysis Transplantationno. Supplement_1 (2024)

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Exploring the Knowledge of Genetics Laboratories on CFTR Modulator Therapy Eligibility: Findings and Reflections During External Quality Assessment

Nele Laudus,Heike Torkler,Raina Yamamoto,Caroline Raynal,Marie-Pierre Audrezet,Celia Badenas,Dragica Radojkovic,Manuela Seia,Valentina Giannone,Els Dequeker

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 635-636

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Targeted RNAseq from Patients’ Urinary Cells to Validate Pathogenic Non Coding Variants in Autosomal Dominant Polycystic Kidney Disease Genes: a Proof of Concept

Guillaume Dorval,Gérald Le Gac,Vincent Morinière,Chandran Ka,Claire Goursaud,Bertrand Knebelmann, Pierre Marijon,Sophie Nambot,Nicolas Cagnard,Patrick Nitschké,Laurence Michel-Calemard,Marie-Pierre Audrézet,Laurence Heidet

Kidney international (2024)

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Genetic Landscape in Population-Based ADPKD Cohort: Beyond PKD Type 1 and PKD Type 2

Nikola Zagorec,Marie-Pierre Audrezet, Jean-Michel Halimi,Frank Bridoux,Jean francois Augusto,Jacques Dantal, Yannick Le Meur,Emilie Cornec-Le Gall

Journal of the American Society of Nephrologyno. 10S (2024)

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Clinical Spectrum and Prognosis of the Atypical Polycystic Kidney Disease Caused by Monoallelic Loss-of-function IFT140 Variants

Nikola Zagorec, Alizee Calamel,Elisabet Ars,Albert Ong,Jan Halbritter,Marie-Pierre Audrezet, Vignesh-Guru Pillay,Yannick Le Meur,John Sayer,Emilie Cornec-Le Gall

NEPHROLOGY DIALYSIS TRANSPLANTATION (2024): I213-I214

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ADPKD-Spectrum Phenotype in Carriers of IFT172 Pathogenic Variants

Doaa E. Elbarougy, Rohail Jameel,Hana Yang,Rachel S. Schauer, Sean Rogers, Shannon K. McDonnell,Jacob A. Frank, Jun Ma,Nikola Zagorec,Marie-Pierre Audrezet,John Andrew Sayer,Emilie Cornec-Le Gall, Nicholas B. Larson,Peter C. Harris

Journal of the American Society of Nephrologyno. 10S (2024)

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Oral-Facial-Digital Syndrome Type 1: an Underestimated Differential Diagnosis of PKD in Women

Constantin Aaron Wolff,Marie-Pierre Audrezet,Emilie Cornec-Le Gall, Jan Halbritter

Journal of the American Society of Nephrologyno. 10S (2024)

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The Multi-Faceted Nature of 15 CFTR Exonic Variations: Impact on Their Functional Classification and Perspectives for Therapy

JOURNAL OF CYSTIC FIBROSISno. 3 (2023): 515-524

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