Anne Legrand

Anne Legrand

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Anne Legrand

Anne Legrand

Publications by authors named "Anne Legrand"

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Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.

Vasc Med 2019 Oct 4;24(5):461-464. Epub 2019 Jun 4.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://dx.doi.org/10.1177/1358863X19853360DOI Listing
October 2019

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

Clin Genet 2019 Sep 18. Epub 2019 Sep 18.

Assistance-Publique Hôpitaux de Paris, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires rares, Service de génétique, Paris, France.

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http://dx.doi.org/10.1111/cge.13643DOI Listing
September 2019

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

Genet Med 2019 07 26;21(7):1568-1575. Epub 2018 Nov 26.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://www.nature.com/articles/s41436-018-0356-2
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http://dx.doi.org/10.1038/s41436-018-0356-2DOI Listing
July 2019

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

J Am Coll Cardiol 2019 Apr;73(15):1948-1957

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris, France; INSERM, U 970, Paris Centre de Recherche Cardiovasculaire-PARCC, Paris, France; Université Paris Sorbonne Cité, Faculté de Médecine Paris Descartes, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07351097193369
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http://dx.doi.org/10.1016/j.jacc.2019.01.058DOI Listing
April 2019

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

Circ Genom Precis Med 2019 Mar;12(3):e001996

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).

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http://dx.doi.org/10.1161/CIRCGEN.117.001996DOI Listing
March 2019

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

Circ Genom Precis Med 2019 Feb 20. Epub 2019 Feb 20.

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares & INSERM, U970, Paris centre de Recherche Cardiovasculaire-PARCC, Paris, France.

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001996DOI Listing
February 2019

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.

BMJ Case Rep 2018 Jul 6;2018. Epub 2018 Jul 6.

Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1136/bcr-2018-224423DOI Listing
July 2018

Clinical utility gene card: for pseudoxanthoma elasticum.

Eur J Hum Genet 2018 06 27;26(6):919-924. Epub 2018 Feb 27.

Département de Génétique, Service de Médecine Vasculaire et Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1038/s41431-017-0090-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974343PMC
June 2018

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

Orphanet J Rare Dis 2018 06 25;13(1):100. Epub 2018 Jun 25.

Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Hôpital Européen Georges Pompidou, AP-HP, 20-40 rue Leblanc, 75908, Paris Cedex 15, France.

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http://dx.doi.org/10.1186/s13023-018-0842-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019721PMC
June 2018

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

Kidney Int 2018 04 15;93(4):961-967. Epub 2018 Feb 15.

Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2017.10.016DOI Listing
April 2018

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

Genet Med 2017 08 19;19(8):909-917. Epub 2017 Jan 19.

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Service de Médecine Vasculaire et Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://dx.doi.org/10.1038/gim.2016.213DOI Listing
August 2017

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

Int J Cardiol 2016 Jun 19;212:248-50. Epub 2016 Mar 19.

Dept. of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.03.068DOI Listing
June 2016