Marie-pierre P. Moizard

Tours, France

Last Updated: 09/26/2026

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Found 11 publications

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Journal: American journal of medical genetics. Part A

Published: February 25, 2025

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 10, 2025

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Journal: Clinical genetics

Published: September 20, 2024

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

Journal: Human genetics

Published: July 17, 2020

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Journal: Human mutation

Published: November 18, 2018

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Journal: European journal of human genetics : EJHG

Published: September 12, 2018

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Journal: Human mutation

Published: February 02, 2018

Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.

Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.

Journal: American journal of medical genetics. Part A

Published: May 31, 2013

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: April 23, 2013

A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.

A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.

Journal: American journal of medical genetics. Part A

Published: April 20, 2013

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Journal: American journal of medical genetics. Part A

Published: March 25, 2013

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Last Updated: 09/26/2026