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Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1132
By:
- Chesneau, Bertrand;
- Edouard, Thomas;
- Dulac, Yves;
- Colineaux, Hélène;
- Langeois, Maud;
- Hanna, Nadine;
- Boileau, Catherine;
- Arnaud, Pauline;
- Chassaing, Nicolas;
- Julia, Sophie;
- Jondeau, Guillaume;
- Plancke, Aurélie;
- Khau Van Kien, Philippe;
- Plaisancié, Julie
Publication type:
Article
Génétique des anévrismes de l'aorte thoracique.
Published in:
Annales de Biologie Clinique, 2022, v. 80, n. 4, p. 344, doi. 10.1684/abc.2022.1742
By:
- Cadenet, Margaux;
- Hanna, Nadine;
- Arnaud, Pauline
Publication type:
Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Published in:
Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9
By:
- Arnaud, Pauline;
- Racine, Caroline;
- Hanna, Nadine;
- Thevenon, Julien;
- Alessandri, Jean-Luc;
- Bonneau, Dominique;
- Clayton-Smith, Jill;
- Coubes, Christine;
- Delobel, Bruno;
- Dupuis-Girod, Sophie;
- Gouya, Laurent;
- Odent, Sylvie;
- Carmignac, Virginie;
- Thauvin-Robinet, Christel;
- Le Goff, Carine;
- Jondeau, Guillaume;
- Boileau, Catherine;
- Faivre, Laurence
Publication type:
Article
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.
Published in:
JAMA Neurology, 2018, v. 75, n. 5, p. 573, doi. 10.1001/jamaneurol.2017.4778
By:
- Wahbi, Karim;
- Porcher, Raphaël;
- Laforêt, Pascal;
- Fayssoil, Abdallah;
- Bécane, Henri Marc;
- Lazarus, Arnaud;
- Sochala, Maximilien;
- Stojkovic, Tanya;
- Béhin, Anthony;
- Leonard-Louis, Sarah;
- Arnaud, Pauline;
- Furling, Denis;
- Probst, Vincent;
- Babuty, Dominique;
- Pellieux, Sybille;
- Clementy, Nicolas;
- Bassez, Guillaume;
- Péréon, Yann;
- Eymard, Bruno;
- Duboc, Denis
Publication type:
Article
Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734718
By:
- Arnaud, Pauline;
- Mougin, Zakaria;
- Boileau, Catherine;
- Le Goff, Carine
Publication type:
Article
Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts.
Published in:
Human Mutation, 2023, p. 1, doi. 10.1155/2023/1410230
By:
- Arnaud, Pauline;
- Cadenet, Margaux;
- Mougin, Zakaria;
- Le Goff, Carine;
- Perbet, Sébastien;
- Francois, Mathilde;
- Dupuis-Girod, Sophie;
- Boileau, Catherine;
- Hanna, Nadine
Publication type:
Article
Actionable Genes, Core Databases, and Locus-Specific Databases.
Published in:
Human Mutation, 2016, v. 37, n. 12, p. 1299, doi. 10.1002/humu.23112
By:
- Pinard, Amélie;
- Miltgen, Morgane;
- Blanchard, Arnaud;
- Mathieu, Hélène;
- Desvignes, Jean‐Pierre;
- Salgado, David;
- Fabre, Aurélie;
- Arnaud, Pauline;
- Barré, Laura;
- Krahn, Martin;
- Grandval, Philippe;
- Olschwang, Sylviane;
- Zaffran, Stéphane;
- Boileau, Catherine;
- Béroud, Christophe;
- Collod‐Béroud, Gwenaëlle
Publication type:
Article
WES/WGS Reporting of Mutations from Cardiovascular 'Actionable' Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Published in:
Human Mutation, 2016, v. 37, n. 12, p. 1308, doi. 10.1002/humu.23119
By:
- Pinard, Amélie;
- Salgado, David;
- Desvignes, Jean‐Pierre;
- Rai, Ghadi;
- Hanna, Nadine;
- Arnaud, Pauline;
- Guien, Céline;
- Martinez, Maria;
- Faivre, Laurence;
- Jondeau, Guillaume;
- Boileau, Catherine;
- Zaffran, Stéphane;
- Béroud, Christophe;
- Collod‐Béroud, Gwenaëlle
Publication type:
Article
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Published in:
Genes, 2020, v. 11, n. 5, p. 574, doi. 10.3390/genes11050574
By:
- Grange, Thomas;
- Aubart, Mélodie;
- Langeois, Maud;
- Benarroch, Louise;
- Arnaud, Pauline;
- Milleron, Olivier;
- Eliahou, Ludivine;
- Gross, Marie-Sylvie;
- Hanna, Nadine;
- Boileau, Catherine;
- Gouya, Laurent;
- Jondeau, Guillaume
Publication type:
Article
Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome.
Published in:
Genes, 2019, v. 10, n. 2, p. 128, doi. 10.3390/genes10020128
By:
- Benarroch, Louise;
- Aubart, Mélodie;
- Gross, Marie-Sylvie;
- Arnaud, Pauline;
- Hanna, Nadine;
- Jondeau, Guillaume;
- Boileau, Catherine
Publication type:
Article
Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression.
Published in:
Genes, 2018, v. 9, n. 9, p. 421, doi. 10.3390/genes9090421
By:
- Benarroch, Louise;
- Gross, Marie-Sylvie;
- Jacob, Marie-Paule;
- Aubart, Mélodie;
- Arnaud, Pauline;
- Boileau, Catherine;
- Jondeau, Guillaume;
- Hanna, Nadine
Publication type:
Article
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
Published in:
Cytogenetic & Genome Research, 2020, v. 160, n. 2, p. 72, doi. 10.1159/000506319
By:
- Monin, Pauline;
- Reynaud, Nicolas;
- Hanna, Nadine;
- Dupuis-Girod, Sophie;
- Till, Marianne;
- arnaud, Pauline;
- Labalme, audrey;
- alix, Eudeline;
- Poizat-amar, Coline;
- Faoucher, Marie;
- Ravella, Lucie;
- Debost, Bernard;
- Obadia, Jean-François;
- Zech, Jean-Christophe;
- Boileau, Catherine;
- Sanlaville, Damien;
- Edery, Patrick;
- Putoux, audrey;
- Schluth-Bolard, Caroline
Publication type:
Article
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.
Published in:
Molecular Syndromology, 2016, v. 6, n. 6, p. 281, doi. 10.1159/000443867
By:
- Le Gloan, Laurianne;
- Hauet, Quentin;
- David, Albert;
- Hanna, Nadine;
- Arfeuille, Chloé;
- Arnaud, Pauline;
- Boileau, Catherine;
- Romefort, Bénédicte;
- Benbrik, Nadir;
- Gournay, Véronique;
- Joram, Nicolas;
- Baron, Olivier;
- Isidor, Bertrand
Publication type:
Article

Found: 13