Marion Aubert-Mucca - Dissemin

Language
Login

All papers authored by Marion Aubert-Mucca

This paper was not found in any repository, but could be made available legally by the author.

2023 Marion Aubert-Mucca

ORCID

, Céline Huber, Genevieve Baujat, Caroline Michot, Mohammed Zarhrate, Marc Bras, Lucile Boutaud, Valérie Malan, Tania Attie-Bitach, Valerie Cormier-Daire

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

Upload

This paper was not found in any repository, but could be made available legally by the author.

Marion Aubert‐Mucca

ORCID

, Caroline Janel, Valérie Porquet‐Bordes, Olivier Patat, Renaud Touraine, Thomas Edouard, Caroline Michot, Aude Tessier, Valérie Cormier‐Daire, Tania Attie‐Bitach

ORCID

, Geneviève Baujat

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome

Upload

This paper was not found in any repository, but could be made available legally by the author.

2022 Bertrand Chesneau

ORCID

, Marion Aubert‐Mucca

ORCID

, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Bertrand Isidor, Mathilde Nizon, Hélène Dollfus, Josseline Kaplan, Lucas Fares‐Taie, Jean‐Michel Rozet, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel and 30 other authors

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Upload

This paper was not found in any repository, but could be made available legally by the author.

2021 Caroline Caetano da Silva

ORCID

, Thomas Edouard

ORCID

, Melanie Fradin, Marion Aubert-Mucca

ORCID

, Manon Ricquebourg, Ratish Raman, Jean Pierre Salles, Valérie Charon, Pascal Guggenbuhl, Marc Muller, Martine Cohen-Solal, Corinne Collet

WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis

Upload

This paper was not found in any repository, but could be made available legally by the author.

Marion Aubert-Mucca

ORCID

, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature

Upload

This paper is made freely available by the publisher.

Bertrand Chesneau

ORCID

, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca

ORCID

, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien

ORCID

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Download from doi.org

This paper was not found in any repository, but could be made available legally by the author.

Clara Velmans

ORCID

, Anne H. O'Donnell Luria, Emanuela Argilli, Frederic Tran Mau-Them, Frederic Tran Mau-Them

ORCID

, Antonio Vitobello

ORCID

, Marcus Cy Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca

ORCID

, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark and 26 other authors

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Upload

This paper was not found in any repository, but could be made available legally by the author.

Marion Aubert Mucca

ORCID

, Marion Aubert Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti

ORCID

, Benjamin Cogné

ORCID

, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Leguern

ORCID

ORCID

, Caroline Nava, Mathilde Nizon and 6 other authors

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Upload

This paper is made freely available by the publisher.

Pierrick Pyra, Jean Darcourt, Marion Aubert-Mucca

ORCID

, Pierre Brandicourt, Olivier Patat, Emmanuel Cheuret, Karine Brochard, Annick Sevely, Lionel Calviere, Clément Karsenty

Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3-Related Moyamoya Angiopathy

Download from doi.org

This paper was not found in any repository, but could be made available legally by the author.

Bertrand Chesneau

ORCID

, Aurélie Plancke, Guillaume Rolland, Nicolas Chassaing, Christine Coubes, Elise Brischoux-Boucher

ORCID

, Thomas Edouard, Yves Dulac, Marion Aubert-Mucca

ORCID

, Thierry Lavabre-Bertrand, Julie Plaisancié

ORCID

, Philippe Khau Van Kien

ORCID

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

Upload

This paper was not found in any repository, but could be made available legally by the author.

2020 Marion Aubert-Mucca

ORCID

, Julie Pernin-Grandjean, Sébastien Marchasson, Veronique Gaston

ORCID

, Christophe Habib, Isabelle Meunier, Sabine Sigaudy, Josseline Kaplan, Olivier Roche, Danièle Denis, Pierre Bitoun, Damien Haye, Alain Verloes

ORCID

, Patrick Calvas

ORCID

, Nicolas Chassaing and 1 other authors

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

Upload

This paper was not found in any repository, but could be made available legally by the author.

C. Dubucs, N. Chassaing, C. Sergi, M. Aubert-Mucca

ORCID

, T. Attié-Bitach, D. Lacombe, C. Thauvin-Robinet, S. Arpin, M. J. Perez, C. Cabrol, C. P. Chen, J. Aziza, E. Colin, J. Martinovic, P. Calvas and 1 other authors

Re-focusing on Agnathia-Otocephaly complex

Upload

Missing publications? Search for publications with a matching author name.