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The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4

Livia Parodi , Mathieu Barbier , Maxime Jacoupy , Claire Pujol , François-Xavier Lejeune , et al.
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Journal articles pasteur-03813186v1
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Parvimonas micra , an oral pathobiont associated with colorectal cancer, epigenetically reprograms human primary intestinal epithelial cells

Emma Bergsten , Denis Mestivier , Francoise Donnadieu , Thierry Pedron , Landry Tsoumtsa , et al.
2022
Preprints, Working Papers, ... pasteur-03689065v1
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Identification of New Biological Pathways Involved in Skin Aging From the Analysis of French Women Genome-Wide Data

Myriam Rahmouni , Vincent Laville , Jean-Louis Spadoni , Randa Jdid , Leopold Eckhart , et al.
Frontiers in Genetics, 2022, 13, ⟨10.3389/fgene.2022.836581⟩
Journal articles hal-03653766v1

Immune Microenvironment and Lineage Tracing Help to Decipher Rosette-Forming Glioneuronal Tumors

Julie Lerond , Mony Chenda Morisse , Quentin Letourneur , Coralie Gimonnet , Soledad Navarro , et al.
Journal of Neuropathology and Experimental Neurology, 2022, Publish Ahead of Print, ⟨10.1093/jnen/nlac074⟩
Journal articles hal-03771198v1
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Whole blood methylome-derived features to discriminate endocrine hypertension

Roberta Armignacco , Parminder Reel , Smarti Reel , Anne Jouinot , Amandine Septier , et al.
Clinical Epigenetics, 2022, 14 (1), pp.142. ⟨10.1186/s13148-022-01347-y⟩
Journal articles hal-03842638v1
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Identification of glucocorticoid-related molecular signature by whole blood methylome analysis

Roberta Armignacco , Anne Jouinot , Lucas Bouys , Amandine Septier , Thomas Lartigue , et al.
European Journal of Endocrinology, 2021, pp.EJE-21-0907.R1. ⟨10.1530/EJE-21-0907⟩
Journal articles hal-03497285v1
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Genome-Wide Analysis of DNA Methylation in Buccal Cells of Children Conceived through IVF and ICSI

Bastien Ducreux , Jean Frappier , Céline Bruno , Abiba Doukani , Magali Guilleman , et al.
Genes, 2021, 12 (12), pp.1912. ⟨10.3390/genes12121912⟩
Journal articles hal-03467331v1

SLITRK2 , an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

Mathieu Barbier , Agnès Camuzat , Khalid El Hachimi , Justine Guegan , Daisy Rinaldi , et al.
Brain - A Journal of Neurology , 2021, 144 (9), pp.2798-2811. ⟨10.1093/brain/awab171⟩
Journal articles hal-03590956v1
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Alternative splicing in normal and pathological human placentas is correlated to genetic variants

Camino S M Ruano , Clara Apicella , Sébastien Jacques , Géraldine Gascoin , Cassandra Gaspar , et al.
Human Genetics, In press, ⟨10.1007/s00439-020-02248-x⟩
Journal articles hal-03113232v1
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Changes in circulating miRNA19a-3p precede insulin resistance programmed by intra-uterine growth retardation in mice

S. Saget , R. Cong , L. Decourtye , M. L. Endale , L. Martinerie , et al.
Molecular metabolism, 2020, 42, pp.101083. ⟨10.1016/j.molmet.2020.101083⟩
Journal articles hal-03170970v1
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Clinicogenomic factors of biotherapy immunogenicity in autoimmune disease: A prospective multicohort study of the ABIRISK consortium

Signe Hässler , Delphine Bachelet , Julianne Duhaze , Natacha Szely , Aude Gleizes , et al.
PLoS Medicine, 2020, 17 (10), pp.e1003348. ⟨10.1371/journal.pmed.1003348⟩
Journal articles hal-03979090v1
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Clinicogenomic factors of biotherapy immunogenicity in autoimmune disease: A prospective multicohort study of the ABIRISK consortium

Signe Hässler , Delphine Bachelet , Julianne Duhaze , Natacha Szely , Aude Gleizes , et al.
PLoS Medicine, 2020, 17 (10), pp.e1003348. ⟨10.1371/journal.pmed.1003348⟩
Journal articles hal-03054988v1
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Identification d’une signature moléculaire d’hypercortisolisme par analyse du methylome du sang total

Roberta Armignacco , Thomas Lartigue , Anne Jouinot , Amandine Septier , Mario Neou , et al.
Annales d'Endocrinologie, 2020, 81 (4), pp.180. ⟨10.1016/j.ando.2020.07.117⟩
Journal articles hal-03035962v1
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Analyse de la méthylation d’ADN sur puces : étude comparative d’échantillons de tissus congelés et tissus FFPE

Badreddine Mohand Oumoussa , Abiba Doukani , Cassandra Gaspar , Franck Bielle
10eme Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference poster hal-02539624v1
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Pangenomic classification of pituitary neuroendocrine tumors

Mario Neou , Chiara Villa , Roberta Armignacco , A. Jouinot , Marie-Laure Raffin-Sanson , et al.
Cancer Cell, 2020, 37 (1), pp.123-134. ⟨10.1016/j.ccell.2019.11.002⟩
Journal articles hal-02441511v1
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Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia

Aurore Siegfried , Julien Masliah-Planchon , Franck-Emmanuel Roux , Delphine Larrieu-Ciron , Gaëlle Pierron , et al.
Acta Neuropathologica Communications, 2019, 7 (1), pp.220. ⟨10.1186/s40478-019-0870-8⟩
Journal articles inserm-02440672v1
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Long-Term Pantethine Treatment Counteracts Pathologic Gene Dysregulation and Decreases Alzheimer’s Disease Pathogenesis in a Transgenic Mouse Model

Kévin Baranger , Manuel van Gijsel-Bonnello , Delphine Stephan , Wassila Carpentier , Santiago Rivera , et al.
Neurotherapeutics, 2019, ⟨10.1007/s13311-019-00754-z⟩
Journal articles hal-02339537v1
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ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors

Emmanuelle Uro-Coste , Julien Masliah-Planchon , Aurore Siegfried , Maud Blanluet , Sander Lambo , et al.
Acta Neuropathologica, 2018, ⟨10.1007/s00401-018-1935-7⟩
Journal articles hal-01984537v1

Binding of the androgen receptor to the nuclear matrix of human foreskin

Irene Mowszowicz , Abiba Doukani , Martine Giacomini
Journal of Steroid Biochemistry, 1988, 29 (6), pp.715-719. ⟨10.1016/0022-4731(88)90173-2⟩
Journal articles istex hal-02575627v1