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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.
Membrane-bound mucin modular domains: from structure to function.
Jonckheere N, Skrypek N, Frénois F, Van Seuningen I. Jonckheere N, et al. Among authors: frenois f. Biochimie. 2013 Jun;95(6):1077-86. doi: 10.1016/j.biochi.2012.11.005. Epub 2012 Nov 20. Biochimie. 2013. PMID: 23178705 Free article. Review.
Sqt1p is an eight-bladed WD40 protein.
Frénois F, Legrand P, Fribourg S. Frénois F, et al. Acta Crystallogr F Struct Biol Commun. 2016 Jan;72(Pt 1):59-64. doi: 10.1107/S2053230X15024097. Epub 2016 Jan 1. Acta Crystallogr F Struct Biol Commun. 2016. PMID: 26750486 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.
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.
21 results