Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Marc Antoine Belaud-Rotureau"'
Autor:
Anne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, Lisa G. Riley, Maud Bidet, Linda Akloul, Andrea Simpson, David Gilot, John Christodoulou, Célia Ravel, Andrew H. Sinclair, Marc-Antoine Belaud-Rotureau, Elena J. Tucker, Sylvie Jaillard
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2023, 31 (4), pp.453-460. ⟨10.1038/s41431-022-01252-1⟩
European Journal of Human Genetics, 2023, 31 (4), pp.453-460. ⟨10.1038/s41431-022-01252-1⟩
International audience; Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these explaining only a minority of cases. Whole exome se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a5423f8b393fbb584997ad16e7e314
https://doi.org/10.1038/s41431-022-01252-1
https://doi.org/10.1038/s41431-022-01252-1
Autor:
Elena J. Tucker, Niklas Gutfreund, Marc‐Antoine Belaud‐Rotureau, David Gilot, Tiffany Brun, Brianna L. Kline, Katrina M. Bell, Mathilde Domin‐Bernhard, Camille Théard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L. Ayers, Andrew H. Sinclair, Volker Dötsch, Sylvie Jaillard
Publikováno v:
Human Mutation
Human Mutation, 2022, 43 (10), pp.1443-1453. ⟨10.1002/humu.24432⟩
Human Mutation, 2022, 43 (10), pp.1443-1453. ⟨10.1002/humu.24432⟩
International audience; Premature ovarian insufficiency (POI) is a leading form of female infertility, characterised by menstrual disturbance and elevated follicle-stimulating hormone before age 40. It is highly heterogeneous with variants in over 80
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8cb9bc9189a89315acaf4f0cb3a81cc
https://doi.org/10.1002/humu.24432
https://doi.org/10.1002/humu.24432
Autor:
Saloua Toujani, Elena J. Tucker, Linda Akloul, Laura Mary, Céline Pimentel, Erika Launay, Lucas Freton, Guilhem Jouve, Catherine Henry, Sylvie Odent, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
Publikováno v:
Cytogenetic and Genome Research
Cytogenetic and Genome Research, 2022, 162 (3), pp.124-131. ⟨10.1159/000524388⟩
Cytogenetic and Genome Research, 2022, 162 (3), pp.124-131. ⟨10.1159/000524388⟩
International audience; Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies are validated genetic factors leading to spermatogenic quantitative defects, with a frequency depending on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25a6399a5f8e03ba140d5f011e0aed94
https://doi.org/10.1159/000524388
https://doi.org/10.1159/000524388
Autor:
Thierry Fest, Vincent Ribrag, Karin Tarte, Fabrice Jardin, Thierry Lamy, Pascal Godmer, Marc-Antoine Belaud-Rotureau, Catherine Henry, Gersende Caron, Valérie Camara-Clayette, Jérôme Le Priol, Eric Guiheneuf, Cédric Pastoret, Francisco Llamas-Gutierrez, Céline Pangault, Mikaël Roussel, Fabienne Desmots
Purpose:Follicular lymphoma arises from a germinal center B-cell proliferation supported by a bidirectional crosstalk with tumor microenvironment, in particular with follicular helper T cells (Tfh). We explored the relation that exists between the di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::895ae516e19434ba4dac959961289ffb
https://doi.org/10.1158/1078-0432.c.6528737
https://doi.org/10.1158/1078-0432.c.6528737
Autor:
Thierry Fest, Vincent Ribrag, Karin Tarte, Fabrice Jardin, Thierry Lamy, Pascal Godmer, Marc-Antoine Belaud-Rotureau, Catherine Henry, Gersende Caron, Valérie Camara-Clayette, Jérôme Le Priol, Eric Guiheneuf, Cédric Pastoret, Francisco Llamas-Gutierrez, Céline Pangault, Mikaël Roussel, Fabienne Desmots
Figure S1 : (A) The 1769-genes signature corresponding to CB/CC transition and CB response to IL-21/CD40L co-stimulation and that are differentially expressed in FL compared to CC and CB were explored using Ingenuity Pathway Analysis (IPA). IPA enric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a6ac642ed71a057543286c71e80cba0
https://doi.org/10.1158/1078-0432.22474250.v1
https://doi.org/10.1158/1078-0432.22474250.v1
Autor:
Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Séverine Mazaud-Guittot, Stéphane Dréano, Bertrand Evrard, Antoine Bigand, Aurélie Cauchoix, Philippe Loget, Anna Lokchine, Laurence Cluzeau, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 273
Genes, 2023, 14 (2), pp.273. ⟨10.3390/genes14020273⟩
Volume 14
Issue 2
Pages: 273
Genes, 2023, 14 (2), pp.273. ⟨10.3390/genes14020273⟩
International audience; Sexual development is a complex process relying on numerous genes. Disruptions in some of these genes are known to cause differences of sexual development (DSDs). Advances in genome sequencing allowed the discovery of new gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1a48d7a4f8fb648aa1542a31cb3ae2d
Autor:
Delphine Leclerc, Louise Goujon, Sylvie Jaillard, Bénédicte Nouyou, Laurence Cluzeau, Léna Damaj, Christèle Dubourg, Amandine Etcheverry, Thierry Levade, Roseline Froissart, Stéphane Dréano, Xavier Guillory, Leif A Eriksson, Erika Launay, Frédéric Mouriaux, Marc-Antoine Belaud-Rotureau, Sylvie Odent, David Gilot
Publikováno v:
The Crispr Journal
The Crispr Journal, 2023, 6 (1), pp.17-31. ⟨10.1089/crispr.2022.0045⟩
CRISPR J
The Crispr Journal, 2023, 6 (1), pp.17-31. ⟨10.1089/crispr.2022.0045⟩
CRISPR J
International audience; Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in GLB1 gene. These variants result in reduced β-galactosidase (β-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b4ea2bda2e416e0b000fd920fdf430b
https://hal.science/hal-03968195
https://hal.science/hal-03968195
Autor:
Benoit Peyronnet, Marc-Antoine Belaud-Rotureau, Marjorie Gournay, Frédéric Dugay, Camille Gandon, Nathalie Rioux-Leclercq, Karim Bensalah, Romain Mathieu, Gregory Verhoest, Solène-Florence Kammerer-Jacquet
Publikováno v:
Annales de Pathologie. 41:557-560
Resume Le carcinome renal a stroma leiomyomateux (CRSL) est une entite histopathologique rare et encore peu decrite. Nous rapportons ici un cas unique presentant des zones en metaplasie osseuse, survenu chez un homme de 31 ans recemment diagnostique
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8920bf4b65188d9d47ad344acbe97975
https://doi.org/10.1016/j.annpat.2021.06.005
https://doi.org/10.1016/j.annpat.2021.06.005
Autor:
Solène-Florence, Kammerer-Jacquet, Camille, Gandon, Frederic, Dugay, Brigitte, Laguerre, Benoit, Peyronnet, Romain, Mathieu, Grégory, Verhoest, Karim, Bensalah, Xavier, Leroy, Sebastien, Aubert, Catherine, Vermaut, Fabienne, Escande, Virginie, Verkarre, Eva, Compérat, Damien, Ambrosetti, Florence, Pedeutour, Marc-Antoine, Belaud-Rotureau, Nathalie, Rioux-Leclercq
Publikováno v:
Histopathology
Histopathology, 2022, 81 (2), pp.228-238. ⟨10.1111/his.14683⟩
Histopathology, 2022, 81 (2), pp.228-238. ⟨10.1111/his.14683⟩
International audience; Aims First described in 2014, renal cell carcinoma (RCC) with TFEB amplification (6p21) is a rare molecular subgroup whose diagnosis is challenging. The prognosis and therapeutic implications remain unclear. Methods We report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::dfb419aebb7aa3286b4ab6ee72ae3e5f
https://hal.science/hal-03711065
https://hal.science/hal-03711065
Publikováno v:
Clinical Medicine Insights: Oncology, Vol 2014, Iss 8, Pp 145-152 (2014)
Externí odkaz:
https://doaj.org/article/8d6518edaf1f4126a35fe96de636f075