Patrice Bourgeois - Laboratoire de Génétique Moléculaire, CHU de la Timone

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个人简介

Patrice Bourgeois currently works at the Departement de genetique medicale, Assistance Publique Hopitaux de Marseille. Patrice does research in Genetics, Molecular Biology and Cell Biology.

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论文共 50 篇作者统计合作学者相似作者

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Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review

Morgane Caralli,Celine Roman,Marie-Edith Coste,Bertrand Roquelaure,Christophe Buffat,Patrice Bourgeois,Catherine Badens,Alexandre Fabre

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION（2021）

引用5浏览0WOS引用

A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence

Alice-Anais Varlet,Camille Desgrouas,Cecile Jebane,Nathalie Bonello-Palot,Patrice Bourgeois,Nicolas Levy,Emmanuele Helfer,Noemie Dubois,Rene Valero,Catherine Badens,Sophie Beliard

Cells（2021）

引用71浏览0WOS引用

A Novel Mutation of PCSK1 Responsible for PC1/3 Deficiency in Two Siblings

Remi Duclaux-Loras,Patrice Bourgeois,Pierre-Marie Lavrut,Fabienne Charbit-Henrion,Pauline Bonniaud-Blot,Raphael Maudinas,Marie Bournez,Mathias Faure,Nadine Cerf-Bensussan,Alain Lachaux,Noel Peretti,Alexandre Fabre

Clinics and research in hepatology and gastroenterologyno. 6 (2021): 101640-101640

引用4浏览0WOS引用

Novel Partial Loss-of-function Variants in the Tyrosyl-Trna Synthetase 1 (YARS1) Gene Involved in Multisystem Disease

Clothilde Esteve,Celine Roman,Cecile DeLeusse, Melissa Baravalle,Karine Bertaux, Frederic Blanc,Patrice Bourgeois,Violaine Bresson,Aline Cano,Marie-Edith Coste,Clemence Delteil,Caroline Lacoste,Marie Loosveld,Andre Maues De Paula, Anne-Sophie Monnier,Veronique Secq,Nicolas Levy,Catherine Badens,Alexandre Fabre

European journal of medical geneticsno. 10 (2021): 104294-104294

引用3浏览0WOS引用

High Prevalence of Mutations in Perilipin 1 in Patients with Precocious Acute Coronary Syndrome

Nathalie Bonello-Palot,Marc Laine,Thomas Cuisset,Thibault Ronchard,Camille Desgrouas,Francoise Merono,Manal Ibrahim-Kosta,Mathieu Cerino,Arnaud Blanchard,Patrice Bourgeois,Nicolas Levy,Anderson Loundou,Pierre-Emmanuel Morange,Marie-Christine Alessi,Catherine Badens,Laurent Bonello

ATHEROSCLEROSIS（2020）

引用1浏览0WOS引用

Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review

J. Chavany,A. Cano,B. Roquelaure,P. Bourgeois,J. Boubnova,P. Gaignard,C. Hoebeke,R. Reynaud, B. Rhomer,A. Slama,C. Badens,B. Chabrol,A. Fabre

ARCHIVES DE PEDIATRIE（2020）

引用15浏览0WOS引用

Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls

Camille Desgrouas,Alice-Anais Varlet,Anne Dutour, Damien Galant,Francoise Merono,Nathalie Bonello-Palot,Patrice Bourgeois,Adele Lasbleiz,Cathy Petitjean,Patricia Ancel,Nicolas Levy,Catherine Badens,Benedicte Gaborit

CELLS（2020）

引用11浏览0WOS引用

Congenital Sodium Diarrhea by Mutation of the SLC9A3 Gene

Georges Dimitrov,Sarah Bamberger,Chloe Navard,Sophie Dreux,Catherine Badens,Patrice Bourgeois,Christophe Buffat,Jean-Pierre Hugot,Alexandre Fabre

European Journal of Medical Genetics（2019）

引用13浏览0WOS引用

Description Osteo-Oto-Hepato-Enteric (O2HE) Syndrome, a New Recessive Autosomal Syndrome Secondary to Loss of Function Mutations in the UNC45A Gene

L. Faivre,C. Esteve, L. Francescatto,P. L. Tan, A. Bourchany, C. Delafoulhouze,E. Marinier,P. Bourgeois,C. Brochier-Armanet,A. Bruel,A. Delarue,Y. Duffourd,E. Ecochard-Dugelay,O. Goulet, P. Gauchez, E. Gonzales, C. Guettier-Bouttier,F. Huet, M. Komutora,G. Hery,C. Lacoste,R. Maudinas, K. Mazodier, Y. Rimet,J. Riviere,B. Roquelaure,J. Sarles,S. Sigaudy, E. Savajols,X. Stephenne,C. Thauvin-Robinet,J. Thevenon,N. Levy,C. Badens,J. Hugot,N. Katsanis,A. Fabre

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

引用1浏览0引用

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Clothilde Esteve,Ludmila Francescatto,Perciliz L. Tan,Aurelie Bourchany,Cecile De Leusse,Evelyne Marinier,Arnaud Blanchard,Patrice Bourgeois,Celine Brochier-Armanet,Ange-Line Bruel,Arnauld Delarue,Yannis Duffourd,Emmanuelle Ecochard-Dugelay,Geraldine Hery,Frederic Huet,Philippe Gauchez,Emmanuel Gonzales, Catherine Guettier-Bouttier,Mina Komuta,Caroline Lacoste, Raphaelle Maudinas, Karin Mazodier, Yves Rimet, Jean-Baptiste Riviere, Bertrand Roquelaure, Sabine Sigaudy, Xavier Stephenne, Christel Thauvin-Robinet, Julien Thevenon, Jacques Sarles, Nicolas Levy, Catherine Badens, Olivier Goulet, Jean-Pierre Hugot, Nicholas Katsanis, Laurence Faivre, Alexandre Fabre

American journal of human genetics（2018）

引用0浏览0WOS引用

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