Juliette Albuisson

Juliette Albuisson

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Juliette Albuisson

Juliette Albuisson

Publications by authors named "Juliette Albuisson"

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33Publications

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Implementation and use of whole exome sequencing for metastatic solid cancer.

EBioMedicine 2020 Jan 7;51:102624. Epub 2020 Jan 7.

Department of Medical Oncology, Georges François Leclerc Cancer Center - UNICANCER, 1 rue Professeur Marion, Dijon 21000, France; Platform of Transfer in Cancer Biology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, France; Université Bourgogne Franche-Comté, Dijon, France; Genomic and Immunotherapy Medical Institute, Dijon, France; INSERM U1231, Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.102624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000332PMC
January 2020

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.

J Invest Dermatol 2019 Nov 11. Epub 2019 Nov 11.

Dermatology Department, Dijon Burgundy University Hospital, Dijon, France; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2019.08.455DOI Listing
November 2019

Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.

Vasc Med 2019 10 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

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 03;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

Segmental aortic stiffness in patients with bicuspid aortic valve compared with first-degree relatives.

Heart 2019 01 4;105(2):130-136. Epub 2018 Aug 4.

Pôle cardiovasculaire, Centre de Référence des Maladies Vasculaires Rares, Hôpital Européen Georges Pompidou, APHP, Paris, France.

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http://dx.doi.org/10.1136/heartjnl-2018-313232DOI Listing
January 2019

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

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

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

Eur J Hum Genet 2015 Dec 11;23(12):1657-64. Epub 2015 Mar 11.

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/ejhg.2015.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795191PMC
December 2015

Clinical utility gene card for: Arterial tortuosity syndrome.

Eur J Hum Genet 2015 Oct 21;23(10). Epub 2015 Jan 21.

AP-HP, Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592088PMC
October 2015

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Eur J Hum Genet 2012 Aug 18;20(8). Epub 2012 Apr 18.

CHU Nantes Hôtel-Dieu, Institut de Biologie, Service de Génétique Médicale, Laboratoire de Génétique Moléculaire, Nantes, France.

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http://www.nature.com/articles/ejhg201264
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http://dx.doi.org/10.1038/ejhg.2012.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400739PMC
August 2012

Assessing the impact of transgenerational epigenetic variation on complex traits.

PLoS Genet 2009 Jun 26;5(6):e1000530. Epub 2009 Jun 26.

Unité de Recherche en Génomique Végétale, Centre National de la Recherche Scientifique (CNRS) UMR 8114, Institut National de la Recherche Agronomique (INRA) UMR 1165, Université d'Evry Val d'Essonne, Evry, France.

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http://dx.doi.org/10.1371/journal.pgen.1000530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696037PMC
June 2009

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

Haematologica 2005 Jan;90(1):25-30

Laboratoire de Biochimie Génétique, AP-HP, et INSERM U468, Hôpital Henri Mondor 94010 Créteil, France.

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January 2005