Caroline MICHOT | Institut Imagine

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Dr, PH

Caroline MICHOT

Bases physiopathologiques des dysplasies squelettiques

Contact :

01 42 19 26 65

caroline.michot@aphp.fr

À propos

Publications scientifiques

Publications

2026

Multimodal imaging reveals resilient memory networks in carriers of pathogeni..., Springer Science and Business Media LLC
2026

Identification of an episignature for CHD3-related Snijders Blok-Campeau synd..., Springer Science and Business Media LLC
2026

A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coinc..., JBMR Plus
2024

Clinical spectrum of rare bone fragility disorders and response to bisphospho..., Eur J Hum Genet
2024

Identification of kinesin family member (KIF22) homozygous variants in spondy..., J Bone Miner Res
2024

Weill-Marchesani syndrome: natural history and genotype-phenotype correlation..., J Med Genet
2023

Clinical heterogeneity of NADSYN1-associated VCRL syndrome., Clin Genet
2023

Unequal Impact of and Variants on Dentinogenesis Imperfecta., J Dent Res
2022

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley
2022

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals., J Med Genet
2022

Natural history of Myhre syndrome., Orphanet J Rare Dis
2022

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis
2020

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype co..., Genet Med
2020

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe..., J Bone Miner Res
2018

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalo..., Neurol Genet
2018

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso..., Eur J Hum Genet
2018

mutations are responsible for autosomal recessive osteogenesis imperfecta., J Med Genet
2014

Myhre syndrome., Clin Genet

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Présentation

À propos

Publications scientifiques

Multimodal imaging reveals resilient memory networks in carriers of pathogeni..., Springer Science and Business Media LLC

Identification of an episignature for CHD3-related Snijders Blok-Campeau synd..., Springer Science and Business Media LLC

A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coinc..., JBMR Plus

Clinical spectrum of rare bone fragility disorders and response to bisphospho..., Eur J Hum Genet

Identification of kinesin family member (KIF22) homozygous variants in spondy..., J Bone Miner Res

Weill-Marchesani syndrome: natural history and genotype-phenotype correlation..., J Med Genet

Clinical heterogeneity of NADSYN1-associated VCRL syndrome., Clin Genet

Unequal Impact of and Variants on Dentinogenesis Imperfecta., J Dent Res

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals., J Med Genet

Natural history of Myhre syndrome., Orphanet J Rare Dis

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype co..., Genet Med

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe..., J Bone Miner Res

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalo..., Neurol Genet

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso..., Eur J Hum Genet

mutations are responsible for autosomal recessive osteogenesis imperfecta., J Med Genet

Myhre syndrome., Clin Genet