Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Eric Pasman"'
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 75:299-303
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b57e79ffcfcc9e8a5c64feae0147fa4d
https://doi.org/10.1097/mpg.0000000000003472
https://doi.org/10.1097/mpg.0000000000003472
Autor:
Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, Eric Pasmant
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-7 (2024)
Abstract We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in 85 (41%) and absent in 122 (59%) fetuses. Amon
Externí odkaz:
https://doaj.org/article/fb86ff8596a34c3cb3123f177fde1632
Autor:
Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-12 (2024)
Abstract About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination betw
Externí odkaz:
https://doaj.org/article/00e14880f9e04229be07b7265bb4d185
Publikováno v:
npj Precision Oncology, Vol 8, Iss 1, Pp 1-6 (2024)
Abstract Little is known about immune checkpoint inhibitors (ICI) response of NF1-mutated lung adenocarcinomas. 341/4,181 (8.2%) TCGA lung adenocarcinomas samples have a somatic NF1 mutation. NF1-mutated tumors have higher TMB (p
Externí odkaz:
https://doaj.org/article/41ba241c0ca14a4b9c65eee83a98d8d1
Publikováno v:
American Journal of Gastroenterology. 116:S203-S203
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10572507354eb23143b09caff2e7c397
https://doi.org/10.14309/01.ajg.0000774312.71901.46
https://doi.org/10.14309/01.ajg.0000774312.71901.46
Publikováno v:
American Journal of Gastroenterology. 116:S155-S155
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d89abc545ca239f163168204796c00bb
https://doi.org/10.14309/01.ajg.0000773904.22188.f1
https://doi.org/10.14309/01.ajg.0000773904.22188.f1
Autor:
Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard
Publikováno v:
Bone Reports, Vol 15, Iss , Pp 101097- (2021)
Background: Loss-of-function variants in the calcium-sensing receptor (CASR) gene are known to be involved in a clinical spectrum ranging from asymptomatic familial hypocalciuric hypercalcemia (FHH) to neonatal severe hyperparathyroidism (NSHPT). Hom
Externí odkaz:
https://doaj.org/article/8bcbd8bca1284190840a9f5903291bb1
Autor:
Camille Tlemsani, Nicolas Pécuchet, Aurelia Gruber, Ingrid Laurendeau, Claire Danel, Marc Riquet, Françoise Le Pimpec‐Barthes, Elizabeth Fabre, Audrey Mansuet‐Lupo, Diane Damotte, Marco Alifano, Armelle Luscan, Benoit Rousseau, Dominique Vidaud, Jennifer Varin, Beatrice Parfait, Ivan Bieche, Karen Leroy, Pierre Laurent‐Puig, Benoit Terris, Helene Blons, Michel Vidaud, Eric Pasmant
Publikováno v:
Cancer Medicine, Vol 8, Iss 9, Pp 4330-4337 (2019)
Abstract The tumor suppressor gene neurofibromin 1 (NF1) is a major regulator of the RAS‐MAPK pathway. NF1 mutations occur in lung cancer but were not extensively explored. We hypothesized that NF1‐mutated tumors could define a specific populatio
Externí odkaz:
https://doaj.org/article/1a977a17d1364953847cb9500545d65d
Autor:
Antoine Campagne, Ming-Kang Lee, Dina Zielinski, Audrey Michaud, Stéphanie Le Corre, Florent Dingli, Hong Chen, Lara Z. Shahidian, Ivaylo Vassilev, Nicolas Servant, Damarys Loew, Eric Pasmant, Sophie Postel-Vinay, Michel Wassef, Raphaël Margueron
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
In Drosophila, the Calypso–ASX complex catalyzes H2A deubiquitination and aids Polycomb in transcriptional silencing. Here the authors show that the orthologous complex, BAP1.com, promotes gene activation by counteracting PRC1-mediated gene silenci
Externí odkaz:
https://doaj.org/article/92338fdb37b04b3b97a5b2deb5e4d404
Autor:
Antoine Toubert, Eric Pasmant, Alexandra Frazao, Louise Rethacker, Géraldine Jeudy, Marina Colombo, Marie-Françoise Avril, Helene Moins-Teisserenc, Marie Roelens, Sophie Dalac, Eve Maubec, Anne Caignard
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 8, Iss 2 (2020)
Background Targeted therapies and immunotherapies are first-line treatments for patients with advanced melanoma. Serine–threonine protein kinase B-RAF (BRAF) and mitogen-activated protein kinase (MEK) inhibition leads to a 70% response rate in pati
Externí odkaz:
https://doaj.org/article/6a710dde9f9d4917acf1c956f7e1ec9d