Legrand A - Search Results

1

Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene.

Zieminski P, Risse J, Legrand A, Dufrost V, Bal L, Settembre N, Malikov S, Jeunemaitre X, Wahl D, Zuily S. Zieminski P, et al. Among authors: legrand a. Acta Cardiol. 2021 Jul;76(5):557-558. doi: 10.1080/00015385.2020.1802904. Epub 2020 Aug 4. Acta Cardiol. 2021. PMID: 32746767 No abstract available.

2

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.

3

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

Mazzella JM, Frank M, Collignon P, Langeois M, Legrand A, Jeunemaitre X, Albuisson J. Mazzella JM, et al. Among authors: legrand a. Clin Genet. 2017 Mar;91(3):458-462. doi: 10.1111/cge.12838. Epub 2016 Sep 13. Clin Genet. 2017. PMID: 27440102

4

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.

5

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.

6

Clinical utility gene card: for pseudoxanthoma elasticum.

Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J. Legrand A, et al. Eur J Hum Genet. 2018 Jun;26(6):919-924. doi: 10.1038/s41431-017-0090-2. Epub 2018 Feb 27. Eur J Hum Genet. 2018. PMID: 29487417 Free PMC article. No abstract available.

7

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Adham S, Trystram D, Albuisson J, Domigo V, Legrand A, Jeunemaitre X, Frank M. Adham S, et al. Among authors: legrand a. Orphanet J Rare Dis. 2018 Jun 25;13(1):100. doi: 10.1186/s13023-018-0842-2. Orphanet J Rare Dis. 2018. PMID: 29940997 Free PMC article. Review.

8

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.

9

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 Feb 20. doi: 10.1161/CIRCGENETICS.117.001996. Online ahead of print. Circ Genom Precis Med. 2019. PMID: 30786240

10

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

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