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

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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.

Research Interests

Papers共 50 篇Author StatisticsCo-AuthorSimilar Experts

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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）

Cited5Views0WOSBibtex

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）

Cited71Views0WOSBibtex

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

Cited4Views0WOSBibtex

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

Cited3Views0WOSBibtex

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）

Cited1Views0WOSBibtex

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）

Cited15Views0WOSBibtex

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）

Cited11Views0WOSBibtex

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）

Cited13Views0WOSBibtex

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）

Cited1Views0Bibtex

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

The American Journal of Human Genetics（2018）

Cited0Views0WOSBibtex

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