P. Bourgeois

发表

Finding Endophenotypes for Autism Spectrum Disorders (ASD): cDNA Microarrays and Brain Transcripts

P. Roubertoux, P. Bourgeois, 2015 .

Ascorbic acid inhibits PMP22 expression by reducing cAMP levels

O. Blin, F. Kaya, M. Fontès, 2007, Neuromuscular Disorders.

High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome.

A. Loundou, P. Morange, A. Blanchard, 2019, Atherosclerosis.

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

N. Lévy, A. Dutour, B. Gaborit, 2020, Cells.

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

A. Slama, A. Cano, B. Chabrol, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

J. Hugot, E. Dugelay, F. Vély, 2018, Front. Immunol..

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

B. Roquelaure, C. Badens, C. Buffat, 2021, Journal of pediatric gastroenterology and nutrition.

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

J. Sarles, J. Hugot, N. Katsanis, 2018, American journal of human genetics.

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain‐3 and dysferlin genes

N. Lévy, M. Bartoli, M. Krahn, 2012, Clinical genetics.

Characterization of the blast cell population in two neonates with Down's syndrome and transient myeloproliferative disorder

J. Villeval, L. Coulombel, G. Tchernia, 1987, British journal of haematology.

LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persist.

M. Mitchell, N. Lévy, C. Metzler-Guillemain, 2017, Reproduction.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

P. Roubertoux, M. Carlier, S. Tordjman, 2017, Behavior Genetics.

Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment.

N. Lévy, F. Dignat-George, F. Sabatier, 2014, Atherosclerosis.

N. Lévy, P. Cau, C. Navarro, 2008, Mechanisms of Ageing and Development.

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

N. Lévy, D. Bessis, A. De Sandre-Giovannoli, 2009, Stroke.

[Next-generation DNA sequencing in clinical diagnostics].

C Lacoste, A Fabre, C Pécheux, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

N. Lévy, E. Helfer, R. Valéro, 2021, Cells.

A Heterozygous ZMPSTE 24 Mutation Associated with Severe Metabolic Syndrome , Ectopic Fat Accumulation , and Dilated Cardiomyopathy

Monique Bernard, Nicolas Levy, N. Lévy, 2019 .

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Monique Bernard, Nicolas Levy, N. Lévy, 2016, Cells.

The involvement of the nuclear lamina in human and rodent spermiogenesis: a systematic review

M. Mitchell, N. Lévy, P. Ray, 2018, Basic and Clinical Andrology.

Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients.

M. Mitchell, N. Lévy, C. Metzler-Guillemain, 2017, Reproductive biomedicine online.

A new lamin a mutation associated with acrogeria syndrome.

C. Bodemer, N. Lévy, S. Hadj-Rabia, 2014, The Journal of investigative dermatology.

Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

P. Roubertoux, M. Carlier, S. Tordjman, 2017, Behavior genetics.

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

V. Barlogis, C. Badens, P. Bourgeois, 2017, Intractable & rare diseases research.

Tricho‐Hepato‐Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects

C. Béroud, N. Lévy, C. Badens, 2018, Human mutation.

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

C. Badens, P. Bourgeois, A. Fabre, 2017, Journal of pediatric gastroenterology and nutrition.

A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

A. Paerregaard, C. Badens, P. Bourgeois, 2018, American journal of medical genetics. Part A.

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

J. Hugot, C. Badens, C. Buffat, 2019, European journal of medical genetics.

Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

N. Lévy, F. Blanc, A. D. de Paula, 2021, European journal of medical genetics.

[Next-generation DNA sequencing in clinical diagnostics].

M. Krahn, C. Lacoste, P. Bourgeois, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.