Publications by authors named "Corinne Collet"

71Publications

A new LRP6 variant and Camurati-Engelmann-like disease.

Bone 2021 Feb 22;143:115706. Epub 2020 Oct 22.

Service de Rhumatologie et Pathologie Osseuse, Hôpital Edouard Herriot, 69437 Lyon, cedex 03, France; Inserm UMR 1033, 69437 Lyon, cedex 03, France; Université de Lyon, 69437 Lyon, cedex 03, France.

View Article and Find Full Text PDF
February 2021

Cherubism as a systemic skeletal disease: evidence from an aggressive case.

BMC Musculoskelet Disord 2020 Aug 21;21(1):564. Epub 2020 Aug 21.

Laboratoire de Physiopathologie Orale Moléculaire, INSERM UMRS 1138, Equipe 5, Centre de Recherche de Cordeliers, 75006, Paris, France.

View Article and Find Full Text PDF
August 2020

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.

Mol Genet Genomic Med 2020 10 8;8(10):e1428. Epub 2020 Aug 8.

Department of Biochemistry and Molecular Biology, Lariboisiere University Hospital, APHP, Paris, France.

View Article and Find Full Text PDF
October 2020

Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia.

Sci Rep 2020 03 13;10(1):4699. Epub 2020 Mar 13.

Université de Paris, BIOSCAR Inserm U1132 and Department of Rheumatology and Reference Center for Constitutional Bone Diseases, AP-HP Hospital Lariboisière, F-75010, Paris, France.

View Article and Find Full Text PDF
March 2020

Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.

Bone 2020 05 30;134:115218. Epub 2019 Dec 30.

Service de Rhumatologie, Hôpital Edouard Herriot, 5 Place d'Arsonval, 69003 Lyon, France.

View Article and Find Full Text PDF
May 2020

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clin Genet 2019 10 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

View Article and Find Full Text PDF
October 2019

Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report.

Pediatr Blood Cancer 2019 07 12;66(7):e27751. Epub 2019 Apr 12.

UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.

View Article and Find Full Text PDF
July 2019

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.

Bone 2019 03 8;120:495-503. Epub 2018 Dec 8.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. Electronic address:

View Article and Find Full Text PDF
March 2019

Results and limits of posterior cranial vault expansion by osteotomy and internal distractors.

Surg Neurol Int 2018 30;9:217. Epub 2018 Oct 30.

Craniofacial Unit, Department of Pediatric Neurosurgery, Hôpital Necker-Enfants Malades, Paris, France.

View Article and Find Full Text PDF
October 2018

High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.

BMC Med Genet 2018 08 10;19(1):143. Epub 2018 Aug 10.

National reference Centre for Wilson's Disease (CRMR Wilson), Department of Neurology, Lariboisiere University Hospital, APHP, Paris, France.

View Article and Find Full Text PDF
August 2018

Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures.

Joint Bone Spine 2017 Dec 23;84(6):715-718. Epub 2016 Dec 23.

Inserm UMR1132, université Paris Diderot, Sorbonne Paris Cité, 2, rue Ambroise-Paré, 75010 Paris, France; Department of rheumatology, Lariboisière hospital, université Paris Diderot, 75010 Paris, France. Electronic address:

View Article and Find Full Text PDF
December 2017