Corinne Collet

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Artikel 59

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Judul

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2020-08-08

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

Corinne Collet
2018-07-23

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

Elise Brischoux-Boucher, Aurelien Trimouille, Genevieve Baujat, A Goldenberg, Sarah Baer, Elise Weber, Marion Lenoir, Didier Lacombe, Corinne Collet, Lionel Val Maldergem
2018-08-10

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

Corinne Collet
2017-05-27

Imbalanced Angiogenesis in Peripartum Cardiomyopathy　- Diagnostic Value of Placenta Growth Factor.

Mattia Arrigo, Corinne Collet, Jane-Lise Samuel, Alexandre Mebazaa, Etienne Gayat, Said Laribi, Karen Sliwa
2017-06-29

Mortality and acute exacerbation of COPD: a pilot study on the influence of myocardial injury.

Chris Pemberton, Mehmet Birhan Yilmaz, Richard Troughton, Mercedes Rivas-Lasarte, Justina Motiejūnaitė, Wenjia Chen, Corinne Collet, Mark Richards
2017-07-01

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome

Corinne Collet, Halil Gürhan Karabulut, Merih Berberoğlu
2016-01-19

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

Corinne Collet
2016-10-14

Exchangeable copper: a reflection of the neurological severity in Wilson's disease.

Corinne Collet, Aurelia Poujois
2016-01-13

Genetic deletion of keratin 8 corrects the altered bone formation and osteopenia in a mouse model of cystic fibrosis.

Corinne Collet, Denis Tondelier, Mylène Zarka, Valérie Geoffroy, Kurt Zatloukal
2016-06-28

First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.

Corinne Collet
2016-02-02

[Malignant infantile osteopetrosis: Case report of a 5-month-old boy]

Corinne Collet, Despina Moshous
2016-12-23

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

Thomas Funck-brentano, Agnes Ostertag, Corinne Collet, Martine Cohen-Solal
2016-02-03

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants

Corinne Collet
2016-03-08

Serotonin Is Involved in Autoimmune Arthritis through Th17 Immunity and Bone Resorption

Corinne Collet, Jacques Callebert
2015-03-19

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Stanislas Lyonnet, Marie Vincent, David Geneviève, Agnes Ostertag, Didier Lacombe, Tania Attié-Bitach, Annick Toutain, Elodie Sanchez, Corinne Collet, Catheline Vilain, Hanitra Randrianaivo, Sandrine Marlin, Elise Schaefer, Hélène Dollfus, Patrick Edery, Marie-Line Jacquemont
2015-03-24

Y-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome?

Corinne Collet, Federico Di Rocco
2015-05-01

Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis

Corinne Collet, Guillaume Coll
2015-11-17

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

Corinne Collet
2014-02-27

Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes

Yann Heuzé, Neus Martínez-Abadías, Corinne Collet
2014-04-16

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

Corinne Collet
2014-03-01

Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report

Corinne Collet
2014-04-01

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

Corinne Collet, Said Laribi
2014-03-25

MSX2 Gene Duplication in a Patient with Eye Development Defects

Corinne Collet, Agnes Bloch-Zupan, Elise Schaefer
2014-03-06

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Corinne Collet, Marie Vincent, Elodie Sanchez, Elise Schaefer
2014-03-26

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Pierre Vabres, Valeria Capra, Franck Boralevi, Marlene Rio, Nataliya Di Donato, Oana Moldovan, Valerie Cormier-Daire, Ana Berta Sousa, Annick Toutain, Corinne Collet
2014-11

Prenatal findings in carpenter syndrome and a novel mutation in RAB23

Annick Toutain, Corinne Collet
2014-12-03

Failure of renal biomarkers to predict worsening renal function in high-risk patients presenting with oliguria

Corinne Collet
2014-06-01

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

Jens Dreier, Corinne Collet
2013-12-16

Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology

Amélie Coudert, Andrea Del Fattore, Corinne Collet, Anna Teti
2013-10-30

Deletion of serotonin 2B receptor provokes structural alterations of mouse dental tissues

Corinne Collet, Arnaud Marchadier, Odile Kellermann
2013-05-22

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

Corinne Collet, Marie Vincent, Alain Verloes, Séverine Drunat
2013-09-17

Serotonin 2B receptor (5-HT2B R) signals through prostacyclin and PPAR-ß/δ in osteoblasts

Luc Maroteaux, Corinne Collet

Human - wd:Q42872019

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