Pauline Arnaud

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 12

Top Venues

Journal of medical genetics

Genes

Molecular genetics & genomic medicine

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. Journal of medical genetics 61 (5) (2024)
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. Journal of medical genetics 61 (5) (2024)
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. Journal of medical genetics 61 (5) (2024)
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. Journal of medical genetics 61 (5) (2024)
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. Journal of medical genetics 61 (5) (2024)
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. Journal of medical genetics (2024)
Bertrand Chesneau, Thomas Edouard, Yves Dulac, Hélène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisancié
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature. Molecular genetics & genomic medicine 8 (5) (2020)
Thomas Grange, Mélodie Aubart, Maud Langeois, Louise Benarroch, Pauline Arnaud, Olivier Milleron, Ludivine Eliahou, Marie-Sylvie Gross, Nadine Hanna, Catherine Boileau, Laurent Gouya, Guillaume Jondeau
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability. Genes 11 (5) (2020)
Luisa Marsili, Eline Overwater, Nadine Hanna, Geneviève Baujat, Marieke J H Baars, Catherine Boileau, Dominique Bonneau, Anne Claire Brehin, Yline Capri, Ho Y Cheung, Eelco Dulfer, Marion Gerard, Laurent Gouya, Yvonne Hilhorst-Hofstee, Arjan C Houweling, Bertrand Isidor, Lauriane Le Gloan, Leonie A Menke, Sylvie Odent, Fanny Morice-Picard, Clemence Vanlerberghe, Els Voorhoeve, J Peter van Tintelen, Alessandra Maugeri, Pauline Arnaud
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient. Clinical genetics 97 (5) (2020)
Ellen M Hostetler, Ellen S Regalado, Dong-Chuan Guo, Nadine Hanna, Pauline Arnaud, Laura Muiño-Mosquera, Bert Louis Callewaert, Kwanghyuk Lee, Suzanne M Leal, Stephanie E Wallace, Andrea L Rideout, Sarah Dyack, Rajani D Aatre, Catherine Boileau, Julie De Backer, Guillaume Jondeau, Dianna M Milewicz
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. Journal of medical genetics 56 (4) (2019)
Melodie Aubart, Steven Gazal, Pauline Arnaud, Louise Benarroch, Marie-Sylvie Gross, Julien Buratti, Anne Boland, Vincent Meyer, Habib Zouali, Nadine Hanna, Olivier Milleron, Chantal Stheneur, Thomas Bourgeron, Isabelle Desguerre, Marie-Paule Jacob, Laurent Gouya, French Exome Consortium, Jean-François Deleuze, Guillaume Jondeau, Catherine Boileau
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. European journal of human genetics : EJHG 26 (12) (2018)
Louise Benarroch, Mélodie Aubart, Marie-Sylvie Gross, Marie-Paule Jacob, Pauline Arnaud, Nadine Hanna, Guillaume Jondeau, Catherine Boileau
Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression. Genes 9 (9) (2018)

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Publication Activity (10 Years)

Top Topics

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Pauline Arnaud