Lista de obras - Corinne Collet - Dominio Público Uruguay

A case-control study of fractures in men with idiopathic osteoporosis: fractures are associated with older age and low cortical bone density

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Abnormal melatonin synthesis in autism spectrum disorders

artículo científico publicado en 2008

Accuracy of urine NGAL commercial assays in critically ill patients

artículo científico publicado en 2012

Adrenomedullin22-52combats inflammation and prevents systemic bone loss in murine collagen-induced arthritis

artículo científico publicado en 2011

Analyse moléculaire de la maladie osseuse de Paget

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Association between elevated blood glucose and outcome in acute heart failure: results from an international observational cohort

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

artículo científico publicado en 2013

Camurati-engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in theTGFB1gene

artículo científico publicado en 2013

Central nervous system malformations and deformations in FGFR2-related craniosynostosis.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia

artículo científico publicado en 2012

Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Decreased osteoclastogenesis in serotonin-deficient mice

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Enamel alterations in serotonin 2B receptor knockout mice

artículo científico publicado en 2011

Epidemiogenetic study of French families with Paget's disease of bone

article

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Genetics of Paget's disease of bone

artículo científico publicado en 2006

Germline mutations in FGF receptors and medulloblastomas.

artículo científico publicado en 2013

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

article

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

artículo científico publicado en 2018

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

scientific article published on 23 December 2016

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

artículo científico publicado en 2017

Ineffective erythropoiesis with reduced red blood cell survival in serotonin-deficient mice

artículo científico publicado en 2011

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

artículo científico publicado en 2013

MSX2 Gene Duplication in a Patient with Eye Development Defects.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Ostéopétrose maligne infantile : à propos d’un cas chez un nourrisson de 5 mois

artículo científico publicado en 2016

Overexpression of the transcriptional factor Runx2 in osteoblasts abolishes the anabolic effect of parathyroid hormone in vivo

artículo científico publicado en 2007

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

artículo científico publicado en 2007

Prenatal findings in carpenter syndrome and a novel mutation in RAB23

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

artículo científico publicado en 2014

Reduced 3-O-methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Serotonin 5-HT2B receptors are required for bone-marrow contribution to pulmonary arterial hypertension.

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Serotonin: good or bad for bone ⬇️

artículo científico publicado el 4 de julio de 2012

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

artículo científico publicado en 2015

Stepwise control of osteogenic differentiation by 5-HT(2B) receptor signaling: nitric oxide production and phospholipase A2 activation.

artículo científico publicado en 2005

The foramen magnum in isolated and syndromic brachycephaly

artículo científico publicado en 2013

The growth of the foramen magnum in Crouzon syndrome

artículo científico publicado en 2012

The serotonin 5-HT2B receptor controls bone mass via osteoblast recruitment and proliferation

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Lista de obras de Corinne Collet

A case-control study of fractures in men with idiopathic osteoporosis: fractures are associated with older age and low cortical bone density

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

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

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

Abnormal melatonin synthesis in autism spectrum disorders

Accuracy of urine NGAL commercial assays in critically ill patients

Adrenomedullin22-52combats inflammation and prevents systemic bone loss in murine collagen-induced arthritis

Analyse moléculaire de la maladie osseuse de Paget

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

Association between elevated blood glucose and outcome in acute heart failure: results from an international observational cohort

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

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

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Camurati-engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in theTGFB1gene

Central nervous system malformations and deformations in FGFR2-related craniosynostosis.

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

Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia

Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

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

Decreased osteoclastogenesis in serotonin-deficient mice

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

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

Enamel alterations in serotonin 2B receptor knockout mice

Epidemiogenetic study of French families with Paget's disease of bone

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

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

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

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

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

Genetics of Paget's disease of bone

Germline mutations in FGF receptors and medulloblastomas.

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

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

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

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

Ineffective erythropoiesis with reduced red blood cell survival in serotonin-deficient mice

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

MSX2 Gene Duplication in a Patient with Eye Development Defects.

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

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

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

Ostéopétrose maligne infantile : à propos d’un cas chez un nourrisson de 5 mois

Overexpression of the transcriptional factor Runx2 in osteoblasts abolishes the anabolic effect of parathyroid hormone in vivo

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

Prenatal findings in carpenter syndrome and a novel mutation in RAB23

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

Reduced 3-O-methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele

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

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

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

Serotonin 5-HT2B receptors are required for bone-marrow contribution to pulmonary arterial hypertension.

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

Serotonin: good or bad for bone ⬇️

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

Stepwise control of osteogenic differentiation by 5-HT(2B) receptor signaling: nitric oxide production and phospholipase A2 activation.

The foramen magnum in isolated and syndromic brachycephaly

The growth of the foramen magnum in Crouzon syndrome

The serotonin 5-HT2B receptor controls bone mass via osteoblast recruitment and proliferation

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

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

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