Frenois F - Search Results

1

A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease.

Frade-Proud'Hon-Clerc S, Smol T, Frenois F, Sand O, Vaillant E, Dhennin V, Bonnefond A, Froguel P, Fumery M, Guillon-Dellac N, Gower-Rousseau C, Vasseur F. Frade-Proud'Hon-Clerc S, et al. Among authors: frenois f. Int J Mol Sci. 2019 Feb 15;20(4):835. doi: 10.3390/ijms20040835. Int J Mol Sci. 2019. PMID: 30769939 Free PMC article.

2

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.

3

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.

4

Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters.

Smol T, Frénois F, Manouvrier-Hanu S, Petit F, Ghoumid J. Smol T, et al. Among authors: frenois f. Eur J Med Genet. 2022 Jan;65(1):104398. doi: 10.1016/j.ejmg.2021.104398. Epub 2021 Nov 16. Eur J Med Genet. 2022. PMID: 34798324

5

The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.

Geerts L, Fantini-Hauwel C, Brugallé E, Boute O, Frénois F, Defrance L, Manouvrier-Hanu S, Petit F, Antoine P. Geerts L, et al. Among authors: frenois f. J Genet Couns. 2017 Jun;26(3):612-619. doi: 10.1007/s10897-016-0033-z. Epub 2016 Oct 28. J Genet Couns. 2017. PMID: 27796677

6

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.

7

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

Brunelle P, Jourdain AS, Escande F, Martinovic J, Dupont J, Busa T, Moncla A, Frénois F, Stichelbout M, Manouvrier-Hanu S, Petit F. Brunelle P, et al. Among authors: frenois f. Am J Med Genet A. 2019 Jul;179(7):1351-1356. doi: 10.1002/ajmg.a.61177. Epub 2019 May 3. Am J Med Genet A. 2019. PMID: 31050392 Review.

8

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

9

Galectin-3 is a non-classic RNA binding protein that stabilizes the mucin MUC4 mRNA in the cytoplasm of cancer cells.

Coppin L, Vincent A, Frénois F, Duchêne B, Lahdaoui F, Stechly L, Renaud F, Villenet C, Van Seuningen I, Leteurtre E, Dion J, Grandjean C, Poirier F, Figeac M, Delacour D, Porchet N, Pigny P. Coppin L, et al. Among authors: frenois f. Sci Rep. 2017 Mar 6;7:43927. doi: 10.1038/srep43927. Sci Rep. 2017. PMID: 28262838 Free PMC article.

10

Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls.

Kern B, Coppin L, Romanet P, Crépin M, Szuster I, Renaud F, Leteurtre E, Frénois F, Wemeau JL, Carnaille B, Cardot-Bauters C, Do Cao C, Pigny P. Kern B, et al. Among authors: frenois f. Eur J Med Genet. 2017 Mar;60(3):178-184. doi: 10.1016/j.ejmg.2017.01.001. Epub 2017 Jan 9. Eur J Med Genet. 2017. PMID: 28089742

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