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Patrice Bourgeois

Mutations of the TWIST gene in the Saethre-Chotzene syndrome
1997 · Vincent El Ghouzzi, Martine Le Merrer, et al. · Nature Genetics · 646
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
1998 · P Bourgeois · Human Molecular Genetics · 180
HGPS and related premature aging disorders: From genomic identification to the first therapeutic approaches
2008 · Sandrine Pereira, Patrice Bourgeois, et al. · Mechanisms of Ageing and Development · 87
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels
2007 · Ferdinand Kaya, Sophie Belin, et al. · Neuromuscular Disorders · 83
Dorso-ventral and rostro-caudal sequential expression of M-twist in the postimplantation murine embryo
1995 · C. Stoetzel, B. Weber, et al. · Mechanisms of Development · 78
The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart
1996 · P. Bourgeois, C. Stoetzel, et al. · Mammalian Genome · 73
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
2018 · Clothilde Esteve, Ludmila Francescatto, et al. · The American Journal of Human Genetics · 69
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Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects
2018 · Patrice Bourgeois, Clothilde Esteve, et al. · Human Mutation · 63
Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment
2014 · Nathalie Bonello-Palot, Stéphanie Simoncini, et al. · Atherosclerosis · 59
Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature
2017 · Alexandre Fabre, Patrice Bourgeois, et al. · Intractable & Rare Diseases Research · 39
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A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy
2016 · Damien Galant, Bénédicte Gaborit, et al. · Cells · 38
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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
2018 · Frédéric Vély, Vincent Barlogis, et al. · Frontiers in Immunology · 37
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Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review
2020 · J. Chavany, A. Cano, et al. · Archives de Pédiatrie · 36
Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease
2008 · Dimitri Renard, Genevieve Fourcade, et al. · Stroke · 34
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LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persist
2017 · Razan A Elkhatib, Marine Paci, et al. · Reproduction · 28
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Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice
2017 · Pierre L. Roubertoux, Nathalie Baril, et al. · Behavior Genetics · 26
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Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls
2020 · Camille Desgrouas, Alice-Anaïs Varlet, et al. · Cells · 25
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Congenital Sodium Diarrhea by mutation of the SLC9A3 gene
2019 · Georges Dimitrov, Sarah Bamberger, et al. · European Journal of Medical Genetics · 18
IBD‐Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome
2016 · Veronica B. Busoni, Julie Lemale, et al. · Journal of Pediatric Gastroenterology and Nutrition · 18
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency
2021 · Morgane Caralli, Celine Roman, et al. · Journal of Pediatric Gastroenterology and Nutrition · 17
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease
2021 · Clothilde Estève, Céline Roman, et al. · European Journal of Medical Genetics · 12
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A New Lamin A Mutation Associated with Acrogeria Syndrome
2014 · Smail Hadj-Rabia, Jacob Mashiah, et al. · Journal of Investigative Dermatology · 12
The locations of the H-twist and H-dermo-1 genes are distinct on the human genome
1997 · F. Perrin-Schmitt, A.L. Bolcato-Bellemin, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 12
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Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients
2017 · Marine Paci, Razan Elkhatib, et al. · Reproductive BioMedicine Online · 10
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X-twi is expressed prior to gastrulation in presumptive neurectodermal and mesodermal cells in dorsalized and ventralized Xenopus laevis embryos
1998 · C Stoetzel, A L Bolcato-Bellemin, et al. · The International Journal of Developmental Biology · 10
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Works count: 202
Citation count: 1,774
H-index: 18
I10-index: 25
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