Plaisancie J - Search Results

1

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.

Tamayo A, Núñez-Moreno G, Ruiz C, Plaisancie J, Damian A, Moya J, Chassaing N, Calvas P, Ayuso C, Minguez P, Corton M. Tamayo A, et al. Among authors: plaisancie j. Int J Mol Sci. 2023 Jan 13;24(2):1562. doi: 10.3390/ijms24021562. Int J Mol Sci. 2023. PMID: 36675087 Free PMC article.

2

Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome.

Hascoet S, Edouard T, Plaisancie J, Arnoult F, Milleron O, Stheneur C, Chevallier B, Zordan C, Odent S, Bal L, Faivre L, Leheup B, Dupuis-Girod S, Ruidavets JB, Acar P, Ferrieres J, Jondeau G, Dulac Y. Hascoet S, et al. Among authors: plaisancie j. Arch Cardiovasc Dis. 2020 Jan;113(1):40-49. doi: 10.1016/j.acvd.2019.09.010. Epub 2019 Nov 14. Arch Cardiovasc Dis. 2020. PMID: 31735609 Free article.

3

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

Masset H, Hestand MS, Van Esch H, Kleinfinger P, Plaisancié J, Afenjar A, Molignier R, Schluth-Bolard C, Sanlaville D, Vermeesch JR. Masset H, et al. Among authors: plaisancie j. Hum Mutat. 2016 Jul;37(7):661-8. doi: 10.1002/humu.22984. Epub 2016 Apr 6. Hum Mutat. 2016. PMID: 26936114

4

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].

De Potter MJ, Edouard T, Amadieu R, Plaisancié J, Julia S, Hadeed K, Hascoët S, Acar P, Dulac Y. De Potter MJ, et al. Among authors: plaisancie j. Arch Pediatr. 2016 May;23(5):504-7. doi: 10.1016/j.arcped.2016.02.001. Epub 2016 Mar 24. Arch Pediatr. 2016. PMID: 27017362 French.

5

Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.

Bessis D, Plaisancié J, Gaston V, Bieth E. Bessis D, et al. Among authors: plaisancie j. Acta Derm Venereol. 2017 Mar 10;97(3):402-403. doi: 10.2340/00015555-2554. Acta Derm Venereol. 2017. PMID: 27786351 Free article. No abstract available.

6

Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient.

Plaisancié J, Kleinfinger P, Cances C, Bazin A, Julia S, Trost D, Lohmann L, Vigouroux A. Plaisancié J, et al. Eur J Med Genet. 2014 Oct;57(10):567-70. doi: 10.1016/j.ejmg.2014.07.004. Epub 2014 Aug 13. Eur J Med Genet. 2014. PMID: 25128687

7

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N. Plaisancié J, et al. Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401279

8

Incomplete penetrance of biallelic ALDH1A3 mutations.

Plaisancié J, Brémond-Gignac D, Demeer B, Gaston V, Verloes A, Fares-Taie L, Gerber S, Rozet JM, Calvas P, Chassaing N. Plaisancié J, et al. Eur J Med Genet. 2016 Apr;59(4):215-8. doi: 10.1016/j.ejmg.2016.02.004. Epub 2016 Feb 10. Eur J Med Genet. 2016. PMID: 26873617

9

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Chassaing N, Ragge N, Plaisancié J, Patat O, Geneviève D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P. Chassaing N, et al. Among authors: plaisancie j. Am J Med Genet A. 2016 Jul;170(7):1895-8. doi: 10.1002/ajmg.a.37667. Epub 2016 Apr 22. Am J Med Genet A. 2016. PMID: 27103084

10

Genetic Advances in Microphthalmia.

Plaisancie J, Calvas P, Chassaing N. Plaisancie J, et al. J Pediatr Genet. 2016 Dec;5(4):184-188. doi: 10.1055/s-0036-1592350. Epub 2016 Sep 16. J Pediatr Genet. 2016. PMID: 27895970 Free PMC article. Review.

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