Carine Le Goff

Paris, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 27 publications

Assembly and remodeling of collagen and elastic fibers in pathophysiology: Proteases have the final cut.

Assembly and remodeling of collagen and elastic fibers in pathophysiology: Proteases have the final cut.

Journal: The FEBS journal

Published: November 14, 2025

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

Journal: medRxiv : the preprint server for health sciences

Published: July 14, 2025

Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.

Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.

Journal: Journal of medical genetics

Published: July 17, 2024

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Journal: Journal of medical genetics

Published: September 18, 2023

Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts.

Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts.

Journal: Human mutation

Published: April 11, 2023

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Journal: Journal of medical genetics

Published: March 27, 2023

Editorial: Women in science: Genetics.

Editorial: Women in science: Genetics.

Journal: Frontiers in genetics

Published: September 06, 2022

The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.

The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.

Journal: Human molecular genetics

Published: January 14, 2022

ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms.

ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms.

Journal: Biomolecules

Published: November 02, 2021

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.

Journal: Frontiers in genetics

Published: July 01, 2021

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 21, 2020

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 03, 2020

Showing 1-12 of 27

Last Updated: 09/26/2026