Chatron N - Search Results

1

Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A. Giannuzzi G, et al. Among authors: chatron n. Mol Biol Evol. 2021 Dec 9;38(12):5576-5587. doi: 10.1093/molbev/msab244. Mol Biol Evol. 2021. PMID: 34464971 Free PMC article.

2

Cuinat S, Quélin C, Pasquier L, Loget P, Aussel D, Odent S, Laquerrière A, Proisy M, Mazoyer S, Delous M, Edery P, Chatron N, Lesca G, Putoux A. Cuinat S, et al. Among authors: chatron n. Eur J Med Genet. 2023 Nov;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Epub 2023 Sep 25. Eur J Med Genet. 2023. PMID: 37758168

3

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.

Larasati YA, Solis GP, Koval A, Griffiths ST, Berentsen R, Aukrust I, Lesca G, Chatron N, Ville D, Korff CM, Katanaev VL. Larasati YA, et al. Among authors: chatron n. Cells. 2023 Oct 17;12(20):2469. doi: 10.3390/cells12202469. Cells. 2023. PMID: 37887313 Free PMC article.

4

Clinical interest of molecular study in cases of isolated midline craniosynostosis.

Di Rocco F, Rossi M, Verlut I, Szathmari A, Beuriat PA, Chatron N, Chauvel-Picard J, Mottolese C, Monin P, Vinchon M, Guernouche S, Collet C. Di Rocco F, et al. Among authors: chatron n. Eur J Hum Genet. 2023 Jun;31(6):621-628. doi: 10.1038/s41431-023-01295-y. Epub 2023 Feb 3. Eur J Hum Genet. 2023. PMID: 36732661 Free PMC article.

5

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C. Chatron N, et al. Am J Med Genet A. 2015 May;167A(5):1008-17. doi: 10.1002/ajmg.a.36856. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25728055

6

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.

Chatron N, Lesca G, Labalme A, Rollat-Farnier PA, Monin P, Pichot E, Edery P, Sanlaville D, Rossi M. Chatron N, et al. Clin Genet. 2017 Jul;92(1):112-114. doi: 10.1111/cge.12907. Epub 2017 Jan 16. Clin Genet. 2017. PMID: 28090630 No abstract available.

7

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

Chatron N, Thibault L, Lespinasse J, Labalme A, Schluth-Bolard C, Till M, Edery P, Touraine R, des Portes V, Lesca G, Sanlaville D. Chatron N, et al. Mol Syndromol. 2017 Nov;8(6):325-330. doi: 10.1159/000479455. Epub 2017 Sep 7. Mol Syndromol. 2017. PMID: 29230163 Free PMC article.

8

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

Demily C, Lesca G, Poisson A, Till M, Barcia G, Chatron N, Sanlaville D, Munnich A. Demily C, et al. Among authors: chatron n. J Autism Dev Disord. 2018 Aug;48(8):2886-2889. doi: 10.1007/s10803-018-3552-7. J Autism Dev Disord. 2018. PMID: 29589274

9

Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management.

Chatron N, Till M, Abel C, Bardel C, Ramond F, Sanlaville D, Schluth-Bolard C. Chatron N, et al. Ultrasound Obstet Gynecol. 2019 Jan;53(1):129-130. doi: 10.1002/uog.20094. Ultrasound Obstet Gynecol. 2019. PMID: 30129190 Free article. No abstract available.

10

Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration.

Poisson A, Chatron N, Labalme A, Till M, Broussolle E, Sanlaville D, Demily C, Lesca G. Poisson A, et al. Among authors: chatron n. Biol Psychiatry. 2019 Feb 15;85(4):e17-e19. doi: 10.1016/j.biopsych.2018.05.010. Epub 2018 Aug 24. Biol Psychiatry. 2019. PMID: 30150100 No abstract available.

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