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KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation
Lucas Bouys
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hal-04994758
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Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
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hal-04601037
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Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review
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hal-04522637
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Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients
Laurence Pacot
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Article dans une revue
cea-04334212
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Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Léa Guerrini-Rousseau
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Article dans une revue
hal-04246320
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Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Laurence Pacot
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Article dans une revue
inserm-04432776
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Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients
Lucas Bouys
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Article dans une revue
hal-03982784
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Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
Lucie Coppin
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Article dans une revue
hal-04014019
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PD-1 Blockade in Solid Tumors with Defects in Polymerase Epsilon
Benoit Rousseau
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Article dans une revue
hal-04210180
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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Claire Forde
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Article dans une revue
hal-04255330
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KDM1A inactivation causes hereditary food-dependent Cushing syndrome
Anna Vaczlavik
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Lucas Bouys
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Florian Violon
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Gaetan Giannone
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Article dans une revue
hal-03604178
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RAS activation induces synthetic lethality of MEK inhibition with mitochondrial oxidative metabolism in acute myeloid leukemia
Justine Decroocq
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Article dans une revue
hal-04085323
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Transcriptome in paraffin samples for the diagnosis and prognosis of adrenocortical carcinoma
Anne Jouinot
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Article dans une revue
inserm-04432877
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Cancérogenèse et variants faux sens pathogènes du domaine exonucléasique des ADN polymérases ε et δ
Albain Chansavang
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Nicolas Leulliot
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hal-03811508
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Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients
Christina Bergqvist
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Journal of the European Academy of Dermatology and Venereology, 2022, 36 (5), pp.739-743. ⟨10.1111/jdv.17974⟩
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hal-03777704
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Severe phenotype in patients with large deletions of NF1
Laurence Pacot
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hal-03403724
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Malignant histiocytosis with a Langerhans cell subtype: A report on the diagnostic and therapeutic challenge
Amel Kime
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inserm-03549848
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COVID-19: Discovery, diagnostics and drug development
Tarik Asselah
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Article dans une revue
inserm-04120635
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Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln
Marion Aubert-Mucca
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hal-03700658
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Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants
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hal-02461447
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Proteome analysis of formalin‐fixed paraffin‐embedded colorectal adenomas reveals the heterogeneous nature of traditional serrated adenomas compared to other colorectal adenomas
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inserm-02372946
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BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation
Antoine Campagne
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hal-02008379
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One NF1 Mutation may Conceal Another
Laurence Pacot
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hal-02436873
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“MPNST Epigenetics”—Letter
Michel Wassef
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hal-03951802
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EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer
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Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (13), pp.6075-6080. ⟨10.1073/pnas.1814634116⟩
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hal-03951711
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Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression
Vinay Mandati
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hal-02266353
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UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population
Pauline Romanet
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hal-01975538
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SUMMIT
Armelle Luscan
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Article dans une revue
hal-02970154
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Abstract 4609: High-grade TP53-mutated endometrial carcinomas have decreased NRF2 antioxidant activity
Guillaume Beinse
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hal-03865719
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The Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis
Ghjuvan Ghjacumu Shackleford
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Proceedings of the National Academy of Sciences of the United States of America, 2018, 115 (6), pp.E1319-E1328. ⟨10.1073/pnas.1715999115⟩
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hal-02110942
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Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Camille Louvrier
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Article dans une revue
hal-03905479
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Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma
Simon Garinet
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hal-02884386
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Humanized Mouse Model to Study Type 1 Diabetes
Sandrine Luce
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Article dans une revue
hal-03972793
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Shifting the Balance of Activating and Inhibitory Natural Killer Receptor Ligands on BRAF V600E Melanoma Lines with Vemurafenib
Alexandra Frazao
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Marina Colombo
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Meriem Messaoudene
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inserm-01637027
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Prognostic value of a newly identified MALAT1 alternatively spliced transcript in breast cancer
Didier Meseure
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François Lallemand
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hal-02349825
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Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells
Jennifer Varin
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inserm-01399312
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Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis
Michel Wassef
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Aurélie Teissandier
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Article dans une revue
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hal-03941465
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Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis
Michel Adam Wassef
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Verónica Rodilla
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Aurélie Teissandier
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Bruno Zeitouni
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hal-02559123
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Chaperoning 5S RNA assembly
Clément Madru
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hal-02884389
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Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study
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hal-02546020
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Mutations in SETD2 cause a novel overgrowth condition
Armelle Luscan
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Valérie Malan
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Article dans une revue
hal-01064581
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MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis
Julien Masliah-Planchon
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BMC Genomics, 2013, 14 (1), pp.473
Article dans une revue
inserm-00845367
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First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis
Eric Pasmant
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Article dans une revue
hal-00685384
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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Eric Pasmant
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Article dans une revue
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hal-00552390
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SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
Eric Pasmant
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Article dans une revue
hal-00552683
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