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Year Number of Results
2004 1
2005 1
2006 1
2009 1
2011 2
2012 3
2013 1
2016 2
2017 5
2018 1
2019 3
2020 2
2021 2
2022 1
2023 1
2024 0

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21 results

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Page 1
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: frenois f. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
The EGF Domains of MUC4 Oncomucin Mediate HER2 Binding Affinity and Promote Pancreatic Cancer Cell Tumorigenesis.
Stoup N, Liberelle M, Schulz C, Cavdarli S, Vasseur R, Magnez R, Lahdaoui F, Skrypek N, Peretti F, Frénois F, Thuru X, Melnyk P, Renault N, Jonckheere N, Lebègue N, Van Seuningen I. Stoup N, et al. Among authors: frenois f. Cancers (Basel). 2021 Nov 16;13(22):5746. doi: 10.3390/cancers13225746. Cancers (Basel). 2021. PMID: 34830899 Free PMC article.
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.
Cardot Bauters C, Leteurtre E, Carnaille B, Do Cao C, Espiard S, Penven M, Destailleur E, Szuster I, Lovecchio T, Leclerc J, Frénois F, Esquivel E, Dahia PLM, Ait-Yahya E, Crépin M, Pigny P. Cardot Bauters C, et al. Among authors: frenois f. Endocr Connect. 2020 Oct;9(10):1042-1050. doi: 10.1530/EC-20-0460. Endocr Connect. 2020. PMID: 33112832 Free PMC article.
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Morel G, Duhamel C, Boussion S, Frénois F, Lesca G, Chatron N, Labalme A, Sanlaville D, Edery P, Thevenon J, Faivre L, Fassier A, Prodhomme O, Escande F, Manouvrier S, Petit F, Geneviève D, Rossi M. Morel G, et al. Among authors: frenois f. Hum Mutat. 2020 Sep;41(9):1499-1506. doi: 10.1002/humu.24070. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32598510
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C, Jourdain AS, Ghoumid J, Frenois F, Mezel A, Vaksmann G, Lenne B, Delobel B, Porchet N, Cormier-Daire V, Smol T, Escande F, Manouvrier-Hanu S, Petit F. Vanlerberghe C, et al. Among authors: frenois f. Eur J Hum Genet. 2019 Mar;27(3):360-368. doi: 10.1038/s41431-018-0303-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552424 Free PMC article.
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Ghoumid J, Petit F, Boute-Benejean O, Frenois F, Cartigny M, Vanlerberghe C, Smol T, Caumes R, de Roux N, Manouvrier-Hanu S. Ghoumid J, et al. Among authors: frenois f. Eur J Hum Genet. 2017 Aug;25(8):1011-1014. doi: 10.1038/ejhg.2017.73. Epub 2017 Jun 7. Eur J Hum Genet. 2017. PMID: 28589944 Free PMC article.
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S. Ghoumid J, et al. Among authors: frenois f. Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16. Genet Med. 2017. PMID: 28301459 Free article.
21 results