OpenURL Connection Search

Select item for more details and to access through your institution.

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
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1185, doi. 10.1002/ajmg.a.35279
By:
- Mégarbané, André;
- Hanna, Nadine;
- Chouery, Eliane;
- Jalkh, Nadine;
- Mehawej, Cybel;
- Boileau, Catherine
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
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348
By:
- Boileau, Catherine;
- Guo, Dong-Chuan;
- Hanna, Nadine;
- Regalado, Ellen S;
- Detaint, Delphine;
- Gong, Limin;
- Varret, Mathilde;
- Prakash, Siddharth K;
- Li, Alexander H;
- d'Indy, Hyacintha;
- Braverman, Alan C;
- Grandchamp, Bernard;
- Kwartler, Callie S;
- Gouya, Laurent;
- Santos-Cortez, Regie Lyn P;
- Abifadel, Marianne;
- Leal, Suzanne M;
- Muti, Christine;
- Shendure, Jay;
- Gross, Marie-Sylvie
Publication type:
Article
ELN gene triplication responsible for familial supravalvular aortic aneurysm.
Published in:
Cardiology in the Young, 2015, v. 25, n. 4, p. 712, doi. 10.1017/S1047951114000766
By:
- Guemann, Anne-Sophie;
- Andrieux, Joris;
- Petit, Florence;
- Halimi, Emmanuel;
- Bouquillon, Sonia;
- Manouvrier-Hanu, Sylvie;
- Van De Kamp, Jiddeke;
- Boileau, Catherine;
- Hanna, Nadine;
- Jondeau, Guillaume;
- Vaksmann, Guy;
- Houfflin-Debarge, Veronique;
- Holder-Espinasse, Muriel
Publication type:
Article
Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition.
Published in:
PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096387
By:
- Aubart, Mélodie;
- Gobert, Delphine;
- Aubart-Cohen, Fleur;
- Detaint, Delphine;
- Hanna, Nadine;
- d’Indya, Hyacintha;
- Lequintrec, Janine-Sophie;
- Renard, Philippe;
- Vigneron, Anne-Marie;
- Dieudé, Philippe;
- Laissy, Jean-Pierre;
- Koch, Pierre;
- Muti, Christine;
- Roume, Joelle;
- Cusin, Veronica;
- Grandchamp, Bernard;
- Gouya, Laurent;
- LeGuern, Eric;
- Papo, Thomas;
- Boileau, Catherine
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
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient.
Published in:
Clinical Genetics, 2020, v. 97, n. 5, p. 723, doi. 10.1111/cge.13700
By:
- Marsili, Luisa;
- Overwater, Eline;
- Hanna, Nadine;
- Baujat, Geneviève;
- Baars, Marieke J.H.;
- Boileau, Catherine;
- Bonneau, Dominique;
- Brehin, Anne Claire;
- Capri, Yline;
- Cheung, Ho Y.;
- Dulfer, Eelco;
- Gerard, Marion;
- Gouya, Laurent;
- Hilhorst‐Hofstee, Yvonne;
- Houweling, Arjan C.;
- Isidor, Bertrand;
- Le Gloan, Lauriane;
- Menke, Leonie A.;
- Odent, Sylvie;
- Morice‐Picard, Fanny
Publication type:
Article
The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 10, p. 2764, doi. 10.1093/hmg/ddv037
By:
- Aubart, Mélodie;
- Gross, Marie-Sylvie;
- Hanna, Nadine;
- Zabot, Marie-Thérèse;
- Sznajder, Marc;
- Detaint, Delphine;
- Gouya, Laurent;
- Jondeau, Guillaume;
- Boileau, Catherine;
- Stheneur, Chantal
Publication type:
Article
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1178, doi. 10.1002/ajmg.a.33813
By:
- Sousa, Sérgio B.;
- Lambot-Juhan, Karen;
- Rio, Marlène;
- Baujat, Geneviève;
- Topouchian, Vicken;
- Hanna, Nadine;
- Le Merrer, Martine;
- Brunelle, Francis;
- Munnich, Arnold;
- Boileau, Catherine;
- Cormier-Daire, Valérie
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
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Published in:
Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02053-9
By:
- Maddirevula, Sateesh;
- Kuwahara, Hiroyuki;
- Ewida, Nour;
- Shamseldin, Hanan E.;
- Patel, Nisha;
- Alzahrani, Fatema;
- AlSheddi, Tarfa;
- AlObeid, Eman;
- Alenazi, Mona;
- Alsaif, Hessa S.;
- Alqahtani, Maha;
- AlAli, Maha;
- Al Ali, Hatoon;
- Helaby, Rana;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Hanna, Nadine;
- Monies, Dorota;
- Derar, Nada
Publication type:
Article
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: Consequences for PI3K binding on Gab1
Published in:
FEBS Letters, 2006, v. 580, n. 10, p. 2477, doi. 10.1016/j.febslet.2006.03.088
By:
- Hanna, Nadine;
- Montagner, Alexandra;
- Lee, Wen Hwa;
- Miteva, Maria;
- Vidal, Michel;
- Vidaud, Michel;
- Parfait, Béatrice;
- Raynal, Patrick
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: 19