Claire Jeandel

Montpellier, France

Last Updated: 09/26/2026

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Found 11 publications

Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature.

Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature.

Journal: Clinical epigenetics

Published: November 19, 2024

Use of new paediatric VO2max reference equations to evaluate aerobic fitness in overweight or obese children with congenital heart disease.

Use of new paediatric VO2max reference equations to evaluate aerobic fitness in overweight or obese children with congenital heart disease.

Journal: European journal of preventive cardiology

Published: February 28, 2023

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

Journal: European journal of medical genetics

Published: January 17, 2022

Growth charts in Kabuki syndrome 1.

Growth charts in Kabuki syndrome 1.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Increasing knowledge in IGF1R defects: lessons from 35 new patients.

Increasing knowledge in IGF1R defects: lessons from 35 new patients.

Journal: Journal of medical genetics

Published: May 29, 2019

Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms.

Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms.

Journal: BJU international

Published: February 19, 2019

Health-related quality of life among children with Turner syndrome: controlled cross-sectional study.

Health-related quality of life among children with Turner syndrome: controlled cross-sectional study.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 18, 2017

Late surgical correction of hypospadias increases the risk of complications: a series of 501 consecutive patients.

Late surgical correction of hypospadias increases the risk of complications: a series of 501 consecutive patients.

Journal: BJU international

Published: January 14, 2017

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Journal: American journal of medical genetics. Part A

Published: July 16, 2013

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Journal: European journal of human genetics : EJHG

Published: October 14, 2012

Very premature pubarche in girls is not a pubertal variant.

Very premature pubarche in girls is not a pubertal variant.

Journal: Hormones (Athens, Greece)

Published: August 22, 2012

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Last Updated: 09/26/2026