Eric Pasmant

Identifiants chercheurs

IdHAL :

eric-pasmant

ORCID :

0000-0002-1881-8762

IdRef :

112215890

ResearcherID :

http://www.researcherid.com/rid/O-7249-2017

Publications

Article dans une revue (52)

Clinical and Pathological Features of EC-cell Familial Small Intestine Neuroendocrine Tumors: A Nationwide Cohort From the French GTE-RENATEN Network Thomas Hunaut,Laura Gérard,Agathe Hercent,Olivia Hentic,Bruno Buecheret al. Endocrine Pathology, 2026, 37 (1), pp.15. ⟨10.1007/s12022-026-09913-3⟩ Article dans une revue hal-05562456v1
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update Lucas Bouys,Anna Vaczlavik,Isadora P Cavalcante,Florian Violon,Anne Jouinotet al. Orphanet Journal of Rare Diseases, 2025, 20 (1), pp.51. ⟨10.1186/s13023-025-03554-1⟩ Article dans une revue hal-05109542v1
Impact of steroid differentiation on tumor microenvironment revealed by single-nucleus atlas of adrenal tumors Anne Jouinot,Yoann Martin,Florian Violon,Thomas Foulonneau,Yanis Bendjelalet al. Nature Communications, 2025, 16 (1), pp.8860. ⟨10.1038/s41467-025-63912-2⟩ Article dans une revue inserm-05306456v1
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,Patricia Vaduva,Anne Jouinot,Florian Violon,Anna Vaczlaviket al. European Journal of Endocrinology, 2025, 192 (2), pp.119-127. ⟨10.1093/ejendo/lvaf016⟩ Article dans une revue hal-04994758v1
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants Laurence Pacot,Marinus Blok,Dominique Vidaud,Laura Fertitta,Ingrid Laurendeauet al. Journal of Medical Genetics, 2025, 62 (12), pp.783-793. ⟨10.1136/jmg-2025-110783⟩ Article dans une revue hal-05249548v1
PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series Patricia Vaduva,Lucas Bouys,Anne Jouinot,Stephanie Espiard,Albain Chansavanget al. Journal of Clinical Endocrinology and Metabolism, 2025, 110 (9), pp.e2946-e2955. ⟨10.1210/clinem/dgae918⟩ Article dans une revue hal-05409999v1
Predisposition to prostate cancer and clinical implications in a real-life cohort Julie Chartier,Albain Chansavang,Anne Jouinot,Nadim Hamzaoui,Arunya Srikaranet al. European Journal of Human Genetics, 2025, 33 (9), pp.1163-1172. ⟨10.1038/s41431-025-01859-0⟩ Article dans une revue hal-05409962v1
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review Laurence Pacot,Milind Girish,Samantha Knight,Gill Spurlock,Vinod Vargheseet al. BMC Medical Genomics, 2024, 17 (1), pp.73. ⟨10.1186/s12920-024-01843-5⟩ Article dans une revue hal-04601037v1
Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review Benjamin Chevalier,Lucie Coppin,Pauline Romanet,Thomas Cuny,Jean-Christophe Maïzaet al. Journal of Clinical Endocrinology and Metabolism, 2024, ⟨10.1210/clinem/dgae055⟩ Article dans une revue hal-04522637v1
Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients Lucas Bouys,Anna Vaczlavik,Anne Jouinot,Patricia Vaduva,Stéphanie Espiardet al. European Journal of Endocrinology, 2023, 187 (1), pp.123-134. ⟨10.1530/EJE-21-1032⟩ Article dans une revue hal-03982784v1
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 Laurence Pacot,Albain Chansavang,Sébastien Jacques,Ingrid Laurendeau,Djihad Hadjadjet al. European Journal of Human Genetics, 2023, 31 (4), pp.380-382. ⟨10.1038/s41431-023-01304-0⟩ Article dans une revue inserm-04432776v1
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency Léa Guerrini-Rousseau,Eric Pasmant,Martine Muleris,Samuel Abbou,Tiphaine Adam-De-Beaumaiset al. Journal of Medical Genetics, 2023, pp.jmg-2023-109235. ⟨10.1136/jmg-2023-109235⟩ Article dans une revue hal-04246320v1
Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients Laurence Pacot,Audrey Sabbagh,Pierre Sohier,Djihad Hadjadj,Manuela Yeet al. British Journal of Dermatology, 2023, ⟨10.1093/bjd/ljad390⟩ Article dans une revue cea-04334212v1
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling? Lucie Coppin,Sophie Giraud,Eric Pasmant,Arnaud Lagarde,Marie-Odile Northet al. European Journal of Endocrinology, 2023, 187 (1), pp.K1-K6. ⟨10.1530/EJE-22-0171⟩ Article dans une revue hal-04014019v1
KDM1A inactivation causes hereditary food-dependent Cushing syndrome Anna Vaczlavik,Lucas Bouys,Florian Violon,Gaetan Giannone,Anne Jouinotet al. Genetics in Medicine, 2022, 24 (2), pp.374-383. ⟨10.1016/j.gim.2021.09.018⟩ Article dans une revue hal-03604178v1
RAS activation induces synthetic lethality of MEK inhibition with mitochondrial oxidative metabolism in acute myeloid leukemia Justine Decroocq,Rudy Birsen,Camille Montersino,Prasad Chaskar,Jordi Manoet al. Leukemia, 2022, 36 (5), pp.1237-1252. ⟨10.1038/s41375-022-01541-0⟩ Article dans une revue hal-04085323v1
PD-1 Blockade in Solid Tumors with Defects in Polymerase Epsilon Benoit Rousseau,Ivan Bieche,Eric Pasmant,Nadim Hamzaoui,Nicolas Leulliotet al. Cancer Discovery, 2022, 12 (6), pp.1435-1448. ⟨10.1158/2159-8290.CD-21-0521⟩ Article dans une revue hal-04210180v1
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. Claire Forde,Emma Burkitt-Wright,Peter D Turnpenny,Eric Haan,John Ealinget al. European Journal of Human Genetics, 2022, 30 (3), ⟨10.1038/s41431-021-01015-4⟩ Article dans une revue hal-04255330v1
Cancérogenèse et variants faux sens pathogènes du domaine exonucléasique des ADN polymérases ε et δ Albain Chansavang,Benoit Rousseau,Nicolas Leulliot,Julien Masliah-Planchon,Ivan Biècheet al. Médecine/Sciences, 2022, 38 (10), pp.763-765. ⟨10.1051/medsci/2022118⟩ Article dans une revue hal-03811508v1
Transcriptome in paraffin samples for the diagnosis and prognosis of adrenocortical carcinoma Anne Jouinot,Juliane Lippert,Mathilde Sibony,Florian Violon,Lindsay Jeanpierreet al. European Journal of Endocrinology, 2022, 186 (6), pp.607-617. ⟨10.1530/EJE-21-1228⟩ Article dans une revue inserm-04432877v1
Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients Christina Bergqvist,Laura Fertitta,Khaled Ezzedine,Arnaud Jannic,Ouidad Zehouet al. Journal of the European Academy of Dermatology and Venereology, 2022, 36 (5), pp.739-743. ⟨10.1111/jdv.17974⟩ Article dans une revue hal-03777704v1
Malignant histiocytosis with a Langerhans cell subtype: A report on the diagnostic and therapeutic challenge Amel Kime,Claire Bréal,Anne-Ségolène Cottereau,Chloe Friedrich,Justine Decroocqet al. Blood Cells, Molecules and Diseases, 2021, 92, pp.102623. ⟨10.1016/j.bcmd.2021.102623⟩ Article dans une revue inserm-03549848v1
Severe phenotype in patients with large deletions of NF1 Laurence Pacot,Dominique Vidaud,Audrey Sabbagh,Ingrid Laurendeau,Audrey Briand-Suleauet al. Cancers, 2021, 13 (12), pp.2963. ⟨10.3390/cancers13122963⟩ Article dans une revue hal-03403724v1
Noninvasive Prenatal Diagnosis of a Paternally Inherited &lt;i&gt;MEN1&lt;/i&gt; Pathogenic Splicing Variant Thomas Huby,Edouard Le Guillou,Cyril Burin Des Roziers,Laurence Pacot,Audrey Briand-Suleauet al. Journal of Clinical Endocrinology and Metabolism, 2021, 107 (4), pp.e1367 - e1373. ⟨10.1210/clinem/dgab894⟩ Article dans une revue hal-05409856v1
COVID-19: Discovery, diagnostics and drug development Tarik Asselah,David Durantel,Eric Pasmant,George Lau,Raymond Schinazi Journal of Hepatology, 2021, 74 (1), pp.168-184. ⟨10.1016/j.jhep.2020.09.031⟩ Article dans une revue inserm-04120635v1
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln Marion Aubert-Mucca,Charlotte Dubucs,Marion Groussolles,Julie Vial,Edouard Le Guillouet al. Bone Reports, 2021, 15, pp.101097. ⟨10.1016/j.bonr.2021.101097⟩ Article dans une revue hal-03700658v1
UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population Pauline Romanet,Amira Mohamed,Sophie Giraud,Marie-Françoise Odou,Marie-Odile Northet al. Journal of Clinical Endocrinology and Metabolism, 2019, 104 (3), pp.753-764. ⟨10.1210/jc.2018-01170⟩ Article dans une revue hal-01975538v1
Proteome analysis of formalin‐fixed paraffin‐embedded colorectal adenomas reveals the heterogeneous nature of traditional serrated adenomas compared to other colorectal adenomas Pierre Sohier,Romain Sanson,Marjorie Leduc,Anne Audebourg,Cedric Broussardet al. Journal of Pathology, 2019, Online ahead of print. ⟨10.1002/path.5366⟩ Article dans une revue inserm-02372946v1
One NF1 Mutation may Conceal Another Laurence Pacot,Cyril Burin Des Roziers,Ingrid Laurendeau,Audrey Briand-Suleau,Audrey Coustieret al. Genes, 2019, 10 (9), pp.633. ⟨10.3390/genes10090633⟩ Article dans une revue hal-02436873v1
BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation Antoine Campagne,Ming-Kang Lee,Dina Zielinski,Audrey A. Michaud,Stéphanie Le Correet al. Nature Communications, 2019, 10, pp.348. ⟨10.1038/s41467-018-08255-x⟩ Article dans une revue hal-02008379v1
Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants Pauline Romanet,Marie-Francoise Odou,Marie-Odile North,Alexandru Saveanu,Lucie Coppinet al. Human Mutation, 2019, 40 (6), pp.661-674. ⟨10.1002/humu.23746⟩ Article dans une revue hal-02461447v1
EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer Michel Wassef,Armelle Luscan,Setareh Aflaki,Dina Zielinski,Pascal Jansenet al. Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (13), pp.6075-6080. ⟨10.1073/pnas.1814634116⟩ Article dans une revue hal-03951711v1
“MPNST Epigenetics”—Letter Michel Wassef,Eric Pasmant,Raphaël Margueron Molecular Cancer Research, 2019, 17 (10), pp.2139-2139. ⟨10.1158/1541-7786.MCR-19-0680⟩ Article dans une revue hal-03951802v1
Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression Vinay Mandati,Laurence Del Maestro,Florent Dingli,Berangère Lombard,Damarys Loewet al. Journal of Biological Chemistry, 2019, 294 (35), pp.12992-13005. ⟨10.1074/jbc.RA118.006937⟩ Article dans une revue hal-02266353v1
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis Camille Louvrier,Eric Pasmant,Audrey Briand-Suleau,Joëlle Cohen,Patrick Nitschkéet al. Neuro-Oncology, 2018, 20 (7), pp.917-929. ⟨10.1093/neuonc/noy009⟩ Article dans une revue hal-03905479v1
The Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis Ghjuvan Ghjacumu Shackleford,Nirmal Kumar Sampathkumar,Mehdi Hichor,Laure Weill,Delphine Meffreet al. Proceedings of the National Academy of Sciences of the United States of America, 2018, 115 (6), pp.E1319-E1328. ⟨10.1073/pnas.1715999115⟩ Article dans une revue hal-02110942v1
Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma Simon Garinet,Juliette Nectoux,Mario Neou,Eric Pasmant,Anne Jouinotet al. Endocrine-Related Cancer, 2018, 25 (3), pp.L13-L17. ⟨10.1530/ERC-17-0467⟩ Article dans une revue hal-02884386v1
Abstract 4609: High-grade TP53-mutated endometrial carcinomas have decreased NRF2 antioxidant activity Guillaume Beinse,Pierre-Alexandre Just,Bastien Rance,Brigitte Izac,Franck Letourneuret al. Cancer Research, 2018, 78 (13_Supplement), pp.4609-4609. ⟨10.1158/1538-7445.AM2018-4609⟩ Article dans une revue hal-03865719v1
SUMMIT Armelle Luscan,Éric Pasmant Médecine/Sciences, 2018, 34 (11), pp.910-913. ⟨10.1051/medsci/2018232⟩ Article dans une revue hal-02970154v1
Humanized Mouse Model to Study Type 1 Diabetes Sandrine Luce,Sophie Guinoiseau,Alexis Gadault,Franck Letourneur,Bertrand Blondeauet al. Diabetes, 2018, 67 (9), pp.1816-1829. ⟨10.2337/db18-0202⟩ Article dans une revue hal-03972793v1
Shifting the Balance of Activating and Inhibitory Natural Killer Receptor Ligands on BRAF V600E Melanoma Lines with Vemurafenib Alexandra Frazao,Marina Colombo,Emmanuelle Fourmentraux-Neves,Meriem Messaoudene,Sylvie Rusakiewiczet al. Cancer Immunology Research, 2017, 5 (7), pp.582 - 593. ⟨10.1158/2326-6066.CIR-16-0380⟩ Article dans une revue inserm-01637027v1
Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing Simon Garinet,Mario Néou,Bruno de la Villéon,Simon Faillot,Julien Sakatet al. Journal of Molecular Diagnostics, 2017, 19 (5), pp.776 - 787. ⟨10.1016/j.jmoldx.2017.06.005⟩ Article dans une revue hal-05409775v1
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells Jennifer Varin,Laury Poulain,Mikael Hivelin,Patrick Nusbaum,Arnaud Hubaset al. Oncotarget, 2016, 7 (24), pp.35753-35767. ⟨10.18632/oncotarget.7099⟩ Article dans une revue inserm-01399312v1
Prognostic value of a newly identified MALAT1 alternatively spliced transcript in breast cancer Didier Meseure,Sophie Vacher,François Lallemand,Kinan Drak Alsibai,Rana Hatemet al. British Journal of Cancer, 2016, 114 (12), pp.1395-1404. ⟨10.1038/bjc.2016.123⟩ Article dans une revue hal-02349825v1
Chaperoning 5S RNA assembly Clément Madru,Simon Lebaron,Magali Blaud,Lila Delbos,Juliana Pipoli da Fonsecaet al. Genes and Development, 2015, 29 (13), pp.1432-1446. ⟨10.1101/gad.260349.115⟩ Article dans une revue hal-02884389v1
Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis Michel Adam Wassef,Verónica Rodilla,Aurélie Teissandier,Bruno Zeitouni,Nadège Gruelet al. Genes and Development, 2015, 29 (24), pp.2547-2562. ⟨10.1101/gad.269522.115⟩ Article dans une revue hal-02559123v1
Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study J. Thevenon,A. Bourredjem,L. Faivre,C Cardot-Bauters,A. Calenderet al. European Journal of Endocrinology, 2015, 173 (6), pp.819-826. ⟨10.1530/EJE-15-0691⟩ Article dans une revue hal-02546020v1
Mutations in SETD2 cause a novel overgrowth condition Armelle Luscan,Ingrid Laurendeau,Valérie Malan,Christine Francannet,Sylvie Odentet al. Journal of Medical Genetics, 2014, 51 (8), pp.512--517. ⟨10.1136/jmedgenet-2014-102402⟩ Article dans une revue hal-01064581v1
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,Eric Pasmant,Armelle Luscan,Ingrid Laurendeau,Nicolas Ortonneet al. BMC Genomics, 2013, 14 (1), pp.473 Article dans une revue inserm-00845367v1
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis Eric Pasmant,Philippe Goussard,Laetitia Baranes,Ingrid Laurendeau,Samuel Quentinet al. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.186⟩ Article dans une revue hal-00685384v1
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype Eric Pasmant,Audrey Sabbagh,Gill Spurlock,Ingrid Laurendeau,Elisa Grilloet al. Human Mutation, 2010, 31 (6), pp.E1506-E1518. ⟨10.1002/humu.21271⟩ Article dans une revue istex hal-00552390v1
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype Eric Pasmant,Audrey Sabbagh,Nadine Hanna,Julien Masliah-Planchon,Emilie Jollyet al. Journal of Medical Genetics, 2009, 46 (7), pp.425. ⟨10.1136/jmg.2008.065243⟩ Article dans une revue hal-00552683v1