Vincent Morinière - Ctr Reference Malad Renales Hereditaires Enfant &, AP HP

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论文共 52 篇作者统计合作学者相似作者

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#2606 Clinically Boosted Exome-Sequencing is Necessary for Accurate and Highly Sensitive Genetic Diagnosis of ADTKD-MUC1

Hassan Saei,Vincent Morinière,Laurence Heidet,Bertrand Knebelmann,Patrick Nitschke,Corinne Antignac,Guillaume Dorval

Nephrology Dialysis Transplantationno. Supplement_1 (2024)

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Clinically Boosted Exome-Sequencing is Necessary for Accurate and Highly Sensitive Genetic Diagnosis of ADTKD-MUC1

Hassan Saei,Vincent Moriniere,Laurence Heidet,Bertrand Knebelmann,Patrick Nitschke,Corinne Antignac, Guillaume Dorval

NEPHROLOGY DIALYSIS TRANSPLANTATION (2024): I228-I230

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P135: X-linked Alport Syndrome: from Transcriptomic Diagnosis to Preclinical Assessment of Splice-Switching Oligonucleotide Therapy Using Patient-Derived Cells and Kidney Organoids*

Hassan Saei,Marie Boisson,Christelle Arrondel, Bruno Estebe,Nicolas Cagnard,Marc Bras,Vincent Morinière, Zaïna Aït Arkoub,Laurence Heidet,Olivier Gribouval,Patrick Nitschké,Corinne Antignac,Géraldine Mollet,Guillaume Dorval

Genetics in Medicine Open (2024): 101032

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#382 Unexpected Diagnoses of ADTKD-MUC1 with the Help of VNtyper

Jessica Kachmar,Hassan Saei,Vincent Morinière,Laurence Heidet,Olivier Gribouval,Manon Mautret-Godefroy,Bertrand Knebelmann,Stéphane Burtey,Vincent Vuiblet,Patrick Nitschké,Corinne Antignac,Guillaume Dorval

Nephrology Dialysis Transplantationno. Supplement_1 (2024)

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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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Steroid-Resistant Nephrotic Syndrome Due to NPHS2 Variants is Not Associated with Posttransplant Recurrence

KIDNEY INTERNATIONAL REPORTSno. 4 (2024): 973-981

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P168: MUC1 Gene Coding-Vntr Alignment-Free Genotyping Approach Augmented ADTKD Diagnosis in a Cohort of 3735 Patients with Hereditary Kidney Diseases

Hassan Saei,Jessica Kachmar,Vincent Morinière,Laurence Heidet,Olivier Gribouval,Said Lebbah,Frederic Tores,Manon Mautret-Godefroy,Bertrand Knebelmann,Stéphane Burtey,Vincent Vuiblet,Corinne Antignac,Patrick Nitschké,Guillaume Dorval

Genetics in Medicine Open (2024): 101065

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Unexpected Diagnoses of ADTKD-MUC1 with the Help of VNtyper

Jessica Kachmar,Hassan Saei,Vincent Moriniere,Laurence Heidet,Olivier Gribouval, Manon Mautret-Godefroy,Bertrand Knebelmann,Stephane Burtey,Vincent Vuiblet,Patrick Nitschke,Corinne Antignac, Guillaume Dorval

NEPHROLOGY DIALYSIS TRANSPLANTATION (2024): I395-I395

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Deep intronic variants in x-linked alport syndrome: from detection to therapeutic hopes

Jessica Kachmar,Hassan Saei,Marie Boisson,Christelle Arrondel,Nicolas Cagnard,Vincent Moriniere, Zaina Ait Arkoub,Laurence Heidet,Aurelie Hummel,Bertrand Knebelmann,Olivier Gribouval,Christine Bole-Feysot,Patrick Nitschke,Corinne Antignac,Guillaume Dorval

PEDIATRIC NEPHROLOGY (2023): S52-S52

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A Wave of Deep Intronic Mutations in X-linked Alport Syndrome

Marie Boisson,Christelle Arrondel,Nicolas Cagnard,Vincent Moriniere, Zaina Ait Arkoub,Hassan Saei,Laurence Heidet,Jessica Kachmar,Aurelie Hummel,Bertrand Knebelmann,Marie-Noelle Bonnet-Dupeyron,Bertrand Isidor, Hassane Izzedine, Eric Legrand, Philippe Couarch,Olivier Gribouval,Christine Bole-Feysot,Melanie Parisot,Patrick Nitschke,Corinne Antignac,Guillaume Dorval

Kidney internationalno. 2 (2023): 367-377

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