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High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Published in:
2017
By:
- Thevenon, Julien;
- Laurent, Gabriel;
- Ader, Flavie;
- Laforệt, Pascal;
- Klug, Didier;
- Pentiah, Anju Duva;
- Gouya, Laurent;
- Maurage, Claude Alain;
- Kacet, Salem;
- Eicher, Jean-Christophe;
- Albuisson, Juliette;
- Desnos, Michel;
- Bieth, Eric;
- Duboc, Denis;
- Martin, Laurent;
- Réant, Patricia;
- Picard, François;
- Bonithon-Kopp, Claire;
- Gautier, Elodie;
- Binquet, Christine
Publication type:
journal article
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <bold>EFEMP2</bold>.
Published in:
Molecular Syndromology, 2018, v. 9, n. 4, p. 190, doi. 10.1159/000489838
By:
- Letard, Pascaline;
- Schepers, Dorien;
- albuisson, Juliette;
- Bruneval, Patrick;
- Spaggiari, Emmanuel;
- Van de Beek, Gerarda;
- Khung-Savatovsky, Suonavy;
- Belarbi, Nadia;
- Capri, Yline;
- Delezoide, anne-Lise;
- Loeys, Bart;
- Guimiot, Fabien
Publication type:
Article
Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.
Published in:
2018
By:
- Adham, Salma;
- Trystram, Denis;
- Albuisson, Juliette;
- Domigo, Valérie;
- Legrand, Anne;
- Jeunemaitre, Xavier;
- Frank, Michael
Publication type:
journal article
Efficacy of platinum-based chemotherapy in metastatic breast cancer and HRD biomarkers: utility of exome sequencing.
Published in:
NPJ Breast Cancer, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41523-022-00395-0
By:
- Galland, Loïck;
- Ballot, Elise;
- Mananet, Hugo;
- Boidot, Romain;
- Lecuelle, Julie;
- Albuisson, Juliette;
- Arnould, Laurent;
- Desmoulins, Isabelle;
- Mayeur, Didier;
- Kaderbhai, Courèche;
- Ilie, Silvia;
- Hennequin, Audrey;
- Bergeron, Anthony;
- Derangère, Valentin;
- Ghiringhelli, François;
- Truntzer, Caroline;
- Ladoire, Sylvain
Publication type:
Article
Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer.
Published in:
Cancers, 2023, v. 15, n. 4, p. 1299, doi. 10.3390/cancers15041299
By:
- Galland, Loïck;
- Roussot, Nicolas;
- Desmoulins, Isabelle;
- Mayeur, Didier;
- Kaderbhai, Courèche;
- Ilie, Silvia;
- Hennequin, Audrey;
- Reda, Manon;
- Albuisson, Juliette;
- Arnould, Laurent;
- Boidot, Romain;
- Truntzer, Caroline;
- Ghiringhelli, François;
- Ladoire, Sylvain
Publication type:
Article
TCR Clonality and Genomic Instability Signatures as Prognostic Biomarkers in High Grade Serous Ovarian Cancer.
Published in:
Cancers, 2021, v. 13, n. 17, p. 4394, doi. 10.3390/cancers13174394
By:
- Lecuelle, Julie;
- Boidot, Romain;
- Mananet, Hugo;
- Derangère, Valentin;
- Albuisson, Juliette;
- Goussot, Vincent;
- Arnould, Laurent;
- Tharin, Zoé;
- Ray Coquard, Isabelle;
- Ghiringhelli, François;
- Truntzer, Caroline;
- Fumet, Jean-David
Publication type:
Article
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1657, doi. 10.1038/ejhg.2015.32
By:
- Frank, Michael;
- Albuisson, Juliette;
- Ranque, Brigitte;
- Golmard, Lisa;
- Mazzella, Jean-Michael;
- Bal-Theoleyre, Laurence;
- Fauret, Anne-Laure;
- Mirault, Tristan;
- Denarié, Nicolas;
- Mousseaux, Elie;
- Boutouyrie, Pierre;
- Fiessinger, Jean-Noël;
- Emmerich, Joseph;
- Messas, Emmanuel;
- Jeunemaitre, Xavier
Publication type:
Article
Clinical utility gene card for: Arterial tortuosity syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.294
By:
- Albuisson, Juliette;
- Moceri, Pamela;
- Flori, Elisabeth;
- Belli, Emre;
- Gronier, Céline;
- Jeunemaitre, Xavier
Publication type:
Article
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.64
By:
- Albuisson, Juliette;
- Schmitt, Sébastien;
- Baron, Sabine;
- Bézieau, Stéphane;
- Benito-Sanz, Sara;
- Heath, Karen E
Publication type:
Article
Custom multi-tumor next-generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three-year clinical use.
Published in:
International Journal of Molecular Medicine, 2022, v. 49, n. 5, p. N.PAG, doi. 10.3892/ijmm.2022.5113
By:
- Chevrier, Sandy;
- Brasselet, Astrid;
- Carnet, Marion;
- Chevriaux, Angélique;
- Gibeaud, Anne;
- Jourdain, Marine;
- Mananet, Hugo;
- Truntzer, Caroline;
- Beltjens, Françoise;
- Charon-Barra, Céline;
- Arnould, Laurent;
- Albuisson, Juliette;
- Comte, Anthony;
- Derangère, Valentin;
- Goussot, Vincent;
- Boidot, Romain
Publication type:
Article
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Published in:
Cancer Medicine, 2023, v. 12, n. 18, p. 18786, doi. 10.1002/cam4.6498
By:
- Mazel, Benoit;
- Bertolone, Geoffrey;
- Baurand, Amandine;
- Cosset, Elodie;
- Sawka, Caroline;
- Robert, Marion;
- Gautier, Elodie;
- Lançon, Allan;
- Réda, Manon;
- Favier, Laure;
- Dérangère, Valentin;
- Richard, Corentin;
- Binquet, Christine;
- Boidot, Romain;
- Goussot, Vincent;
- Albuisson, Juliette;
- Ghiringhelli, François;
- Faivre, Laurence;
- Nambot, Sophie
Publication type:
Article
Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Published in:
Cardiovascular Research, 2021, v. 117, n. 4, p. 1154, doi. 10.1093/cvr/cvaa161
By:
- Georges, Adrien;
- Albuisson, Juliette;
- Berrandou, Takiy;
- Dupré, Délia;
- Lorthioir, Aurélien;
- D'Escamard, Valentina;
- Narzo, Antonio F Di;
- Kadian-Dodov, Daniella;
- Olin, Jeffrey W;
- Warchol-Celinska, Ewa;
- Prejbisz, Aleksander;
- Januszewicz, Andrzej;
- Bruneval, Patrick;
- Baranowska, Anna A;
- Webb, Tom R;
- Hamby, Stephen E;
- Samani, Nilesh J;
- Adlam, David;
- Fendrikova-Mahlay, Natalia;
- Hazen, Stanley
Publication type:
Article
Corrigendum: Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Published in:
Nature Communications, 2013, v. 4, n. 9, p. 2440, doi. 10.1038/ncomms3440
By:
- Albuisson, Juliette;
- Murthy, Swetha E.;
- Bandell, Michael;
- Coste, Bertrand;
- Louis-dit-Picard, Hélène;
- Mathur, Jayanti;
- Fénéant-Thibault, Madeleine;
- Tertian, Gérard;
- de Jaureguiberry, Jean-Pierre;
- Syfuss, Pierre-Yves;
- Cahalan, Stuart;
- Garçon, Loic;
- Toutain, Fabienne;
- Rohrlich, Pierre Simon;
- Delaunay, Jean;
- Picard, Véronique;
- Jeunemaitre, Xavier;
- Patapoutian, Ardem
Publication type:
Article
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Published in:
Nature Communications, 2013, v. 4, n. 5, p. 1884, doi. 10.1038/ncomms2899
By:
- Albuisson, Juliette;
- Murthy, Swetha E;
- Bandell, Michael;
- Coste, Bertrand;
- Louis-dit-Picard, Hélène;
- Mathur, Jayanti;
- Fénéant-Thibault, Madeleine;
- Tertian, Gérard;
- de Jaureguiberry, Jean-Pierre;
- Syfuss, Pierre-Yves;
- Cahalan, Stuart;
- Garçon, Loic;
- Toutain, Fabienne;
- Simon Rohrlich, Pierre;
- Delaunay, Jean;
- Picard, Véronique;
- Jeunemaitre, Xavier;
- Patapoutian, Ardem
Publication type:
Article
Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Published in:
2021
By:
- Vignes, Stéphane;
- Albuisson, Juliette;
- Champion, Laurence;
- Constans, Joël;
- Tauveron, Valérie;
- Malloizel, Julie;
- Quéré, Isabelle;
- Simon, Laura;
- Arrault, Maria;
- Trévidic, Patrick;
- Azria, Philippe;
- Maruani, Annabel;
- French National Referral Center for Primary Lymphedema
Publication type:
journal article
Assessing the Impact of Transgenerational Epigenetic Variation on Complex Traits.
Published in:
PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000530
By:
- Johannes, Frank;
- Porcher, Emmanuelle;
- Teixeira, Felipe K.;
- Saliba-Colombani, Vera;
- Simon, Matthieu;
- Agier, Nicolas;
- Bulski, Agnès;
- Albuisson, Juliette;
- Heredia, Fabiana;
- Audigier, Pascal;
- Bouchez, David;
- Dillmann, Christine;
- Guerche, Philippe;
- Hospital, Frédéric;
- Colot, Vincent
Publication type:
Article
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 ( KAL2).
Published in:
Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9298
By:
- Albuisson, Juliette;
- Pêcheux, Chistophe;
- Carel, Jean-Claude;
- Lacombe, Didier;
- Leheup, Bruno;
- Lapuzina, Pablo;
- Bouchard, Philippe;
- Legius, Eric;
- Matthijs, Gert;
- Wasniewska, Malgorzata;
- Delpech, Marc;
- Young, Jacques;
- Hardelin, Jean-Pierre;
- Dodé, Catherine
Publication type:
Article
Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
Published in:
Vascular Medicine, 2019, v. 24, n. 5, p. 461, doi. 10.1177/1358863X19853360
By:
- Devriese, Magali;
- Legrand, Anne;
- Courtois, Marie-Cécile;
- Jeunemaitre, Xavier;
- Albuisson, Juliette
Publication type:
Article
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
Published in:
PLoS Genetics, 2016, v. 12, n. 10, p. 1, doi. 10.1371/journal.pgen.1006367
By:
- Kiando, Soto Romuald;
- Tucker, Nathan R.;
- Castro-Vega, Luis-Jaime;
- Katz, Alexander;
- D'Escamard, Valentina;
- Tréard, Cyrielle;
- Fraher, Daniel;
- Albuisson, Juliette;
- Kadian-Dodov, Daniella;
- Zi Ye;
- Austin, Erin;
- Min-Lee Yang;
- Hunker, Kristina;
- Barlassina, Cristina;
- Cusi, Daniele;
- Galan, Pilar;
- Empana, Jean-Philippe;
- Jouven, Xavier;
- Gimenez-Roqueplo, Anne-Paule;
- Bruneval, Patrick
Publication type:
Article

Found: 19