Sylvie Manouvrier

Centre De Référence Anomalies Du Développement Et Syndromes Malformatifs De L'interrégion Nord Est
Lille, France

Last Updated: 09/26/2026

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Found 26 publications

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

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

Published: March 06, 2024

A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.

A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.

Journal: European journal of epidemiology

Published: November 14, 2023

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Journal: Orphanet journal of rare diseases

Published: February 28, 2022

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.

Journal: Orphanet journal of rare diseases

Published: December 14, 2020

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Journal: European journal of medical genetics

Published: September 03, 2020

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Journal: Human mutation

Published: January 23, 2020

Growth charts in Kabuki syndrome 1.

Growth charts in Kabuki syndrome 1.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

Journal: European journal of medical genetics

Published: June 13, 2019

MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.

MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.

Journal: Genes, chromosomes & cancer

Published: May 23, 2019

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

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

Published: March 06, 2019

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Journal: BMC medical genetics

Published: February 11, 2019

Searching for secondary findings: considering actionability and preserving the right not to know.

Searching for secondary findings: considering actionability and preserving the right not to know.

Journal: European journal of human genetics : EJHG

Published: February 08, 2019

Showing 1-12 of 26

Last Updated: 09/26/2026