Sylvie Hanu-Manouvrier

Lille, 59000, France

Last Updated: 09/26/2026

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Found 47 publications

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

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

Published: March 20, 2024

Executive functioning in adolescents and adults with Silver-Russell syndrome.

Executive functioning in adolescents and adults with Silver-Russell syndrome.

Journal: PloS one

Published: November 16, 2022

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Journal: Journal of medical genetics

Published: August 08, 2022

TRIT1 deficiency: Two novel patients with four novel variants.

TRIT1 deficiency: Two novel patients with four novel variants.

Journal: European journal of medical genetics

Published: April 25, 2022

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

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

Published: December 29, 2021

Quality of life and mental health of adolescents and adults with Silver-Russell syndrome.

Quality of life and mental health of adolescents and adults with Silver-Russell syndrome.

Journal: European journal of medical genetics

Published: October 21, 2021

Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters.

Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters.

Journal: European journal of medical genetics

Published: June 23, 2021

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Journal: Clinical genetics

Published: October 19, 2020

Confirmation of risk of cancer in blepharocheilodontic syndrome.

Confirmation of risk of cancer in blepharocheilodontic syndrome.

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

Published: May 11, 2020

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.

Journal: European journal of medical genetics

Published: April 13, 2020

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome.

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome.

Journal: Disability and rehabilitation

Published: December 03, 2019

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Journal: Human mutation

Published: November 13, 2019

Showing 1-12 of 47

Last Updated: 09/26/2026