Works matching AU Collet, Corinne

Results: 55

A Case of Skin Lesion in a Child and Radiological Lesions in His Father.

Published in:

JEADV Clinical Practice, 2025, v. 4, n. 2, p. 630, doi. 10.1002/jvc2.70003

By:

Renuy, Jeanne;
Audebert‐Bellanger, Severine;
Collet, Corinne;
Misery, Laurent;
Abasq‐Thomas, Claire

Publication type:

Article

Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene.

Published in:

Rheumatology, 2023, v. 62, n. 12, p. 3978, doi. 10.1093/rheumatology/kead118

By:

Bardin, Thomas;
Ducrot, Yves-Marie;
Nguyen, Quang;
Letavernier, Emmanuel;
Zaworski, Jeremy;
Ea, Hang-Korng;
Touzain, Fréderic;
Do, Minh Duc;
Colot, Julien;
Barguil, Yann;
Biron, Antoine;
Resche-Rigon, Matthieu;
Richette, Pascal;
Collet, Corinne

Publication type:

Article

Anorexia nervosa hyperactivity-induced ischemic colitis (ANHIC): a new cause of anaemia.

Published in:

2016

By:

Blanchet-Collet, Corinne;
Sider, Aline;
Gal, Beatrice;
Hanachi-Guidoum, Mouna;
Melchior, Jean-Claude;
Bouscary, Didier;
Ringuenet, Damien;
Tournemire, Renaud;
Moro, Marie;
de Tournemire, Renaud;
Moro, Marie Rose

Publication type:

journal article

Acetylcholine Modulates the Hormones of the Growth Hormone/Insulinlike Growth Factor-1 Axis During Development in Mice.

Published in:

Endocrinology, 2018, v. 159, n. 4, p. 1844, doi. 10.1210/en.2017-03175

By:

Lecomte, Marie-José;
Bertolus, Chloé;
Ramanantsoa, Nélina;
Saurini, Françoise;
Callebert, Jacques;
Sénamaud-Beaufort, Catherine;
Ringot, Maud;
Bourgeois, Thomas;
Matrot, Boris;
Collet, Corinne;
Nardelli, Jeannette;
Mallet, Jacques;
Vodjdani, Guilan;
Gallego, Jorge;
Launay, Jean-Marie;
Berrard, Sylvie

Publication type:

Article

Diagnosis and Outcomes of Late‐Onset Wilson's Disease: A National Registry‐Based Study.

Published in:

Movement Disorders, 2023, v. 38, n. 2, p. 321, doi. 10.1002/mds.29292

By:

Nilles, Christelle;
Obadia, Mickael Alexandre;
Sobesky, Rodolphe;
Dumortier, Jérôme;
Guillaud, Olivier;
Laurencin, Chloé;
Moreau, Caroline;
Vanlemmens, Claire;
Ory‐Magne, Fabienne;
de Ledinghen, Victor;
Bardou‐Jacquet, Edouard;
Fluchère, Frederique;
Collet, Corinne;
Oussedik‐Djebrani, Nouzha;
Woimant, France;
Poujois, Aurélia

Publication type:

Article

Analytical evaluation of the automated galectin-3 assay on the Abbott ARCHITECT immunoassay instruments.

Published in:

Clinical Chemistry & Laboratory Medicine, 2014, v. 52, n. 6, p. 919, doi. 10.1515/cclm-2013-0942

By:

Gaze, David C.;
Prante, Christian;
Dreier, Jens;
Knabbe, Cornelius;
Collet, Corinne;
Launay, Jean-Marie;
Franekova, Janka;
Jabor, Antonin;
Lennartz, Lieselotte;
Shih, Jessie;
del Rey, Jose Manuel;
Zaninotto, Martina;
Plebani, Mario;
Collinson, Paul O.

Publication type:

Article

S100B blood level measurement to exclude cerebral lesions after minor head injury: the multicenter STIC-S100 French study.

Published in:

Clinical Chemistry & Laboratory Medicine, 2014, v. 52, n. 4, p. 527, doi. 10.1515/cclm-2013-0621

By:

Laribi, Said;
Kansao, Jamal;
Borderie, Didier;
Collet, Corinne;
Deschamps, Patrick;
Ababsa, Redha;
Mouniam, Léonard;
Got, Laurence;
Leon, Alain;
Thoannes, Henri;
Santin, Aline;
Kouyoumdjian, Jean-Claude;
Dahyot-Fizelier, Claire;
Millet, Catherine;
Golmard, Jean-Louis;
Beaudeux, Jean-Louis

Publication type:

Article

Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.

Published in:

Clinical Genetics, 2024, v. 105, n. 6, p. 666, doi. 10.1111/cge.14501

By:

Previdi, Anaïk;
Dubourg, Christèle;
Cormier Daire, Valérie;
Fradin, Mélanie;
Collet, Corinne

Publication type:

Article

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

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 309, doi. 10.1111/cge.13591

By:

Bizaoui, Varoona;
Michot, Caroline;
Baujat, Geneviève;
Amouroux, Cyril;
Baron, Sabine;
Capri, Yline;
Cohen‐Solal, Martine;
Collet, Corinne;
Dieux, Anne;
Geneviève, David;
Isidor, Bertrand;
Monnot, Sophie;
Rossi, Massimiliano;
Rothenbuhler, Anya;
Schaefer, Elise;
Cormier‐Daire, Valérie

Publication type:

Article

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1413, doi. 10.1038/ejhg.2014.57

By:

di Rocco, Federico;
Baujat, Geneviève;
Arnaud, Eric;
Rénier, Dominique;
Laplanche, Jean-Louis;
Daire, Valérie Cormier;
Collet, Corinne

Publication type:

Article

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 52, doi. 10.1038/ejhg.2013.98

By:

Vincent, Marie;
Collet, Corinne;
Verloes, Alain;
Lambert, Laetitia;
Herlin, Christian;
Blanchet, Catherine;
Sanchez, Elodie;
Drunat, Séverine;
Vigneron, Jacqueline;
Laplanche, Jean-Louis;
Puechberty, Jacques;
Sarda, Pierre;
Geneviève, David

Publication type:

Article

Local and systemic innate immune response to secondary human peritonitis.

Published in:

Critical Care, 2013, v. 17, n. 5, p. R201, doi. 10.1186/cc12895

By:

Riché, Florence;
Gayat, Etienne;
Collet, Corinne;
Matéo, Joaquim;
Laisné, Marie-Josèphe;
Launay, Jean-Marie;
Valleur, Patrice;
Payen, Didier;
Cholley, Bernard P.

Publication type:

Article

Local and systemic innate immune response to secondary human peritonitis.

Published in:

2013

By:

Riché, Florence;
Gayat, Etienne;
Collet, Corinne;
Matéo, Joaquim;
Laisné, Marie-Josèphe;
Launay, Jean-Marie;
Valleur, Patrice;
Payen, Didier;
Cholley, Bernard P

Publication type:

journal article

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

Published in:

2019

By:

Baer, Sarah;
Schaefer, Élise;
Michot, Caroline;
Fischbach, Michel;
Morelle, Guillaume;
Bendavid, Matthieu;
Castelle, Martin;
Moshous, Despina;
Collet, Corinne

Publication type:

Letter

PTH-independent regulation of blood calcium concentration by the calcium-sensing receptor.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3355, doi. 10.1172/JCI57407

By:

Loupy, Alexandre;
Ramakrishnan, Suresh Krishna;
Wootla, Bharath;
Chambrey, Régine;
de la Faille, Renaud;
Bourgeois, Soline;
Bruneval, Patrick;
Mandet, Chantal;
Christensen, Erik Ilso;
Faure, Hélène;
Cheval, Lydie;
Laghmani, Kamel;
Collet, Corinne;
Eladari, Dominique;
Dodd, Robert H.;
Ruat, Martial;
Houillier, Pascal

Publication type:

Article

Lrp5 p.Val667Met Variant Compromises Bone Mineral Density and Matrix Properties in Osteoporosis.

Published in:

JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10741

By:

Fabre, Stéphanie;
Bourmaud, Morgane;
Mabilleau, Guillaume;
Goulet, Ruben;
Couturier, Aude;
Dentel, Alexandre;
Picaud, Serge;
Funck‐Brentano, Thomas;
Collet, Corinne;
Cohen‐Solal, Martine

Publication type:

Article

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes.

Published in:

JBMR Plus, 2018, v. 2, n. 1, p. 12, doi. 10.1002/jbm4.10020

By:

Collet, Corinne;
Ostertag, Agnès;
Ricquebourg, Manon;
Delecourt, Marine;
Tueur, Giulia;
Isidor, Bertrand;
Guillot, Pascale;
Schaefer, Elise;
Javier, Rose‐Marie;
Funck‐Brentano, Thomas;
Orcel, Philippe;
Laplanche, Jean‐Louis;
Cohen‐Solal, Martine

Publication type:

Article

Inflammatory Potential of Four Different Phases of Calcium Pyrophosphate Relies on NF-κB Activation and MAPK Pathways.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02248

By:

Campillo-Gimenez, Laure;
Renaudin, Félix;
Jalabert, Maud;
Gras, Pierre;
Gosset, Marjolaine;
Rey, Christian;
Sarda, Stéphanie;
Collet, Corinne;
Cohen-Solal, Martine;
Combes, Christèle;
Lioté, Frédéric;
Ea, Hang-Korng

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1622, doi. 10.1093/hmg/ddab349

By:

Silva, Caroline Caetano da;
Edouard, Thomas;
Fradin, Melanie;
Aubert-Mucca, Marion;
Ricquebourg, Manon;
Raman, Ratish;
Salles, Jean Pierre;
Charon, Valérie;
Guggenbuhl, Pascal;
Muller, Marc;
Cohen-Solal, Martine;
Collet, Corinne

Publication type:

Article

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

Published in:

Surgical Neurology International, 2018, p. 14, doi. 10.4103/sni.sni_465_17

By:

Di Rocco, Federico;
Kenichi Usami;
Protzenko, Tatiana;
Collet, Corinne;
Giraudat, Kim;
Arnaud, Eric

Publication type:

Article

MSX2 Gene Duplication in a Patient with Eye Development Defects.

Published in:

Ophthalmic Genetics, 2015, v. 36, n. 4, p. 353, doi. 10.3109/13816810.2014.886270

By:

Plaisancié, Julie;
Collet, Corinne;
Pelletier, Valerie;
Perdomo, Yaumara;
Studer, Fouzia;
Fradin, Mélanie;
Schaefer, Elise;
Speeg-Schatz, Claude;
Bloch-Zupan, Agnès;
Flori, Elisabeth;
Dollfus, Hélène

Publication type:

Article

Anorexia nervosa in a girl of Chinese origin: Psychological, somatic and transcultural factors.

Published in:

Clinical Child Psychology & Psychiatry, 2015, v. 20, n. 2, p. 276, doi. 10.1177/1359104513514067

By:

Demarque, Mélissa;
Guzman, Gabriela;
Morrison, Elodie;
Ahovi, Jonathan;
Moro, Marie Rose;
Blanchet-Collet, Corinne

Publication type:

Article

Paget's Disease of Bone in the French Population: Novel SQSTM1 Mutations, Functional Analysis, and Genotype—Phenotype Correlations.

Published in:

Journal of Bone & Mineral Research, 2007, v. 22, n. 2, p. 310, doi. 10.1359/JBMR.061106

By:

Collet, Corinne;
Michou, Laëtitia;
Audran, Maurice;
Chasseigneaux, Stéphanie;
Hilliquin, Pascal;
Bardin, Thomas;
Lemaire, Isabelle;
Cornélis, François;
Launay, Jean-Marie;
Orcel, Philippe;
Laplanche, Jean-Louis

Publication type:

Article

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

Published in:

2020

By:

Morice, Anne;
Joly, Aline;
Ricquebourg, Manon;
Maruani, Gérard;
Durand, Emmanuel;
Galmiche, Louise;
Amiel, Jeanne;
Vial, Yoann;
Cavé, Hélène;
Belhous, Kahina;
Piketty, Marie;
Cohen-Solal, Martine;
Berdal, Ariane;
Collet, Corinne;
Picard, Arnaud;
Coudert, Amelie E.;
Kadlub, Natacha

Publication type:

journal article

Deconstructing Antiobesity Compound Action: Requirement of Serotonin 5-HT<sub>2B</sub> Receptors for Dexfenfluramine Anorectic Effects.

Published in:

Neuropsychopharmacology, 2011, v. 36, n. 2, p. 423, doi. 10.1038/npp.2010.173

By:

Banas, Sophie M.;
Doly, Stéphane;
Boutourlinsky, Katia;
Diaz, Silvina L;
Belmer, Arnauld;
Callebert, Jacques;
Collet, Corinne;
Launay, Jean-Marie;
Maroteaux, Luc

Publication type:

Article

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

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61704-w

By:

Huet, Thomas;
Cohen-Solal, Martine;
Laredo, Jean-Denis;
Collet, Corinne;
Baujat, Geneviève;
Cormier-Daire, Valérie;
Yelnik, Alain;
Orcel, Philippe;
Beaudreuil, Johann

Publication type:

Article

Enamel alterations in serotonin 2B receptor knockout mice.

Published in:

European Journal of Oral Sciences, 2011, v. 119, p. 177, doi. 10.1111/j.1600-0722.2011.00908.x

By:

Harichane, Yassine;
Dimitrova‐Nakov, Sasha;
Marchadier, Arnaud;
Collet, Corinne;
Baudry, Anne;
Vidal, Catherine;
Kamoun‐Goldrat, Agnès;
Kellermann, Odile;
Goldberg, Michel

Publication type:

Article

New Insights in Anorexia Nervosa.

Published in:

Frontiers in Neuroscience, 2016, p. 1, doi. 10.3389/fnins.2016.00256

By:

Gorwood, Philip;
Blanchet-Collet, Corinne;
Chartrel, Nicolas;
Duclos, Jeanne;
Dechelotte, Pierre;
Hanachi, Mouna;
Fetissov, Serguei;
Godart, Nathalie;
Melchior, Jean-Claude;
Ramoz, Nicolas;
Rovere-Jovene, Carole;
Tolle, Virginie;
Viltart, Odile;
Epelbaum, Jacques;
Tatsushi Onaka;
Mari Szuki

Publication type:

Article

Deletion of Serotonin 2B Receptor Provokes Structural Alterations of Mouse Dental Tissues.

Published in:

Calcified Tissue International, 2014, v. 94, n. 3, p. 293, doi. 10.1007/s00223-013-9810-y

By:

Dimitrova-Nakov, Sasha;
Baudry, Anne;
Harichane, Yassine;
Collet, Corinne;
Marchadier, Arnaud;
Kellermann, Odile;
Goldberg, Michel

Publication type:

Article

The Osteoblast Transcriptome in Developing Zebrafish Reveals Key Roles for Extracellular Matrix Proteins Col10a1a and Fbln1 in Skeletal Development and Homeostasis.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 2, p. 139, doi. 10.3390/biom14020139

By:

Raman, Ratish;
Antony, Mishal;
Nivelle, Renaud;
Lavergne, Arnaud;
Zappia, Jérémie;
Guerrero-Limón, Gustavo;
Caetano da Silva, Caroline;
Kumari, Priyanka;
Sojan, Jerry Maria;
Degueldre, Christian;
Bahri, Mohamed Ali;
Ostertag, Agnes;
Collet, Corinne;
Cohen-Solal, Martine;
Plenevaux, Alain;
Henrotin, Yves;
Renn, Jörg;
Muller, Marc

Publication type:

Article

A Zebrafish Mutant in the Extracellular Matrix Protein Gene efemp1 as a Model for Spinal Osteoarthritis.

Published in:

Animals (2076-2615), 2024, v. 14, n. 1, p. 74, doi. 10.3390/ani14010074

By:

Raman, Ratish;
Bahri, Mohamed Ali;
Degueldre, Christian;
Caetano da Silva, Caroline;
Sanchez, Christelle;
Ostertag, Agnes;
Collet, Corinne;
Cohen-Solal, Martine;
Plenevaux, Alain;
Henrotin, Yves;
Muller, Marc

Publication type:

Article

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1390, doi. 10.1002/ajmg.a.61147

By:

Ghesh, Leila;
Vincent, Marie;
Delemazure, Anne‐Sophie;
Boyer, Julie;
Corre, Pierre;
Perez, Fabienne;
Geneviève, David;
Laplanche, Jean‐Louis;
Collet, Corinne;
Isidor, Bertrand

Publication type:

Article

A new case of bent bone dysplasia-FGFR2 type and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 785, doi. 10.1002/ajmg.a.37473

By:

Stichelbout, Morgane;
Dieux‐Coeslier, Anne;
Clouqueur, Elodie;
Collet, Corinne;
Petit, Florence

Publication type:

Article

Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2926, doi. 10.1002/ajmg.a.36726

By:

Haye, Damien;
Collet, Corinne;
Sembely‐Taveau, Catherine;
Haddad, Georges;
Denis, Christelle;
Soulé, Nathalie;
Suc, Annie‐Laure;
Listrat, Antoine;
Toutain, Annick

Publication type:

Article

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 177, doi. 10.1002/ajmg.a.36166

By:

Pinson, Lucile;
Mannini, Linda;
Willems, Marjolaine;
Cucco, Francesco;
Sirvent, Nicolas;
Frebourg, Thierry;
Quarantotti, Valentina;
Collet, Corinne;
Schneider, Anouck;
Sarda, Pierre;
Geneviève, David;
Puechberty, Jacques;
Lefort, Geneviève;
Musio, Antonio

Publication type:

Article

Camurati-engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2074, doi. 10.1002/ajmg.a.36022

By:

Collet, Corinne;
Laplanche, Jean ‐ Louis;
de Vernejoul, Marie ‐ Christine

Publication type:

Article

Germline mutations in FGF receptors and medulloblastomas.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 382, doi. 10.1002/ajmg.a.35719

By:

Bourdeaut, Franck;
Miquel, Catherine;
Di Rocco, Federico;
Grison, Camille;
Richer, Wilfrid;
Brugieres, Laurence;
Pierron, Gaelle;
James, Syril;
Baujat, Genevieve;
Delattre, Olivier;
Collet, Corinne

Publication type:

Article

Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 3, p. 362, doi. 10.1093/jbmr/zjae205

By:

Villegas Villarroel, Miriam;
Huber, Céline;
Baujat, Geneviève;
Bonnard, Adeline;
Collet, Corinne;
Cormier-Daire, Valérie

Publication type:

Article

Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study.

Published in:

Journal of Bone & Mineral Research, 2023, v. 38, n. 11, p. 1665, doi. 10.1002/jbmr.4912

By:

Mercier‐Guery, Alexandre;
Millet, Marjorie;
Merle, Blandine;
Collet, Corinne;
Bagouet, Flora;
Borel, Olivier;
Sornay‐Rendu, Elisabeth;
Szulc, Pawel;
Vignot, Emmanuelle;
Gensburger, Deborah;
Fontanges, Elisabeth;
Croset, Martine;
Chapurlat, Roland

Publication type:

Article

The Foramen magnum in isolated and syndromic brachycephaly.

Published in:

Child's Nervous System, 2014, v. 30, n. 1, p. 165, doi. 10.1007/s00381-013-2245-y

By:

Di Rocco, Federico;
Dubravova, Dana;
Ziyadeh, Jawad;
Sainte-Rose, Christian;
Collet, Corinne;
Arnaud, Eric

Publication type:

Article

The growth of the foramen magnum in Crouzon syndrome.

Published in:

Child's Nervous System, 2012, v. 28, n. 9, p. 1525, doi. 10.1007/s00381-012-1805-x

By:

Coll, Guillaume;
Arnaud, Eric;
Selek, Laurent;
Brunelle, Francis;
Sainte-Rose, Christian;
Collet, Corinne;
Rocco, Federico

Publication type:

Article

Crouzon syndrome with acanthosis nigricans: a case-based update.

Published in:

Child's Nervous System, 2011, v. 27, n. 3, p. 349, doi. 10.1007/s00381-010-1347-z

By:

di Rocco, Federico;
Collet, Corinne;
Legeai-Mallet, Laurence;
Arnaud, Eric;
Le Merrer, Martine;
Hadj-Rabia, Smail;
Renier, Dominique

Publication type:

Article

Optic nerve elongation during fronto-facial surgery for Crouzon syndrome: 3D quantification and clinical implications.

Published in:

Journal of Neurosurgery: Pediatrics, 2024, v. 34, n. 4, p. 414, doi. 10.3171/2024.5.PEDS2483

By:

Kogane, Nicolas;
Hennocq, Quentin;
Collet, Corinne;
Touzé, Romain;
Arnaud, Éric;
Paternoster, Giovanna;
Khonsari, Roman H.

Publication type:

Article

Serotonin 2B Receptor (5-HT<sub>2B</sub> R) Signals through Prostacyclin and PPAR-ß/δ in Osteoblasts.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075783

By:

Chabbi-Achengli, Yasmine;
Launay, Jean-Marie;
Maroteaux, Luc;
de Vernejoul, Marie Christine;
Collet, Corinne

Publication type:

Article

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.

Published in:

Pediatric Dermatology, 2019, v. 36, n. 2, p. 242, doi. 10.1111/pde.13748

By:

Muguet Guenot, Louise;
Aubert, Helene;
Isidor, Bertrand;
Toutain, Annick;
Mazereeuw‐Hautier, Juliette;
Collet, Corinne;
Bourrat, Emmanuelle;
Denis Musquer, Marie;
Barbarot, Sébastien

Publication type:

Article

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5.

Published in:

2016

By:

Biha, Noura;
Ghaber, S. M.;
Hacen, M. M.;
Collet, Corinne

Publication type:

Case Study

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

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0660-3

By:

Collet, Corinne;
Laplanche, Jean-Louis;
Page, Justine;
Morel, Hélène;
Woimant, France;
Poujois, Aurélia

Publication type:

Article

Bone loss induced by Runx2 Over-expression in mice is blunted by osteoblastic over-expression of TIMP-1.

Published in:

Journal of Cellular Physiology, 2010, v. 222, n. 1, p. 219, doi. 10.1002/jcp.21941

By:

SCHILTZ, CORINNE;
PROUILLET, CHRISTOPHE;
MARTY, CAROLINE;
MERCIRIS, DIDIER;
COLLET, CORINNE;
De VERNEJOUL, MARIE-CHRISTINE;
GEOFFROY, VALERIE

Publication type:

Article

More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1681

By:

Caetano da Silva, Caroline;
Ricquebourg, Manon;
Orcel, Philippe;
Fabre, Stéphanie;
Funck‐Brentano, Thomas;
Cohen‐Solal, Martine;
Collet, Corinne

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1428

By:

Woimant, France;
Poujois, Aurelia;
Bloch, Adrien;
Jordi, Tabaras;
Laplanche, Jean‐Louis;
Morel, Hélène;
Collet, Corinne

Publication type:

Article