Legrand A - Search Results

1

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, Bruno D, Decramer S, Deschenes G, Djeddi D, Guigonis V, Jay N, Khalifeh T, Llanas B, Morin D, Morin G, Nobili F, Pietrement C, Ryckewaert A, Salomon R, Vrillon I, Blanchard A, Vargas-Poussou R. Legrand A, et al. Clin J Am Soc Nephrol. 2018 Feb 7;13(2):242-250. doi: 10.2215/CJN.05670517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2018. PMID: 29146702 Free PMC article.

2

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D. Ashton EJ, et al. Among authors: legrand a. Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15. Kidney Int. 2018. PMID: 29398133 Free article.

3

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.

Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella JM, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X. Frank M, et al. Among authors: legrand a. J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. J Am Coll Cardiol. 2019. PMID: 30999998 Free article.

4

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X. Legrand A, et al. Genet Med. 2019 Jul;21(7):1568-1575. doi: 10.1038/s41436-018-0356-2. Epub 2018 Nov 26. Genet Med. 2019. PMID: 30474650 Free article.

5

Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.

Devriese M, Legrand A, Courtois MC, Jeunemaitre X, Albuisson J. Devriese M, et al. Among authors: legrand a. Vasc Med. 2019 Oct;24(5):461-464. doi: 10.1177/1358863X19853360. Epub 2019 Jun 4. Vasc Med. 2019. PMID: 31164056

6

Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.

Adham S, Dupuis-Girod S, Charpentier E, Mazzella JM, Jeunemaitre X, Legrand A. Adham S, et al. Among authors: legrand a. Clin Genet. 2020 Feb;97(2):357-361. doi: 10.1111/cge.13643. Epub 2019 Oct 1. Clin Genet. 2020. PMID: 31531849

7

Communication of genetic information to at-risk relatives during the multidisciplinary monitoring of vascular Ehlers-Danlos syndrome in a French referral clinic.

Mazzella JM, Adham S, Frank M, Legrand A, Lahlou-Laforêt K, Jeunemaitre X. Mazzella JM, et al. Among authors: legrand a. J Genet Couns. 2020 Oct;29(5):828-837. doi: 10.1002/jgc4.1211. Epub 2020 Jan 5. J Genet Couns. 2020. PMID: 31903687

8

Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Henneton P, Albuisson J, Adham S, Legrand A, Mazzella JM, Jeunemaitre X, Frank M. Henneton P, et al. Among authors: legrand a. Circ Genom Precis Med. 2019 Mar;12(3):e001996. doi: 10.1161/CIRCGEN.117.001996. Circ Genom Precis Med. 2019. PMID: 30919682

9

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J. Legrand A, et al. Genet Med. 2017 Aug;19(8):909-917. doi: 10.1038/gim.2016.213. Epub 2017 Jan 19. Genet Med. 2017. PMID: 28102862 Free article.

10

Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.

de Nijs T, Albuisson J, Ockeloen CW, Legrand A, Jeunemaitre X, Schultze Kool LJ, Riksen NP. de Nijs T, et al. Among authors: legrand a. Int J Cardiol. 2016 Jun 1;212:248-50. doi: 10.1016/j.ijcard.2016.03.068. Epub 2016 Mar 19. Int J Cardiol. 2016. PMID: 27045881 Free article. No abstract available.

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