Anne-marie Beaufrere

Clermont-ferrand, France

Last Updated: 09/26/2026

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Found 9 publications

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Journal: Journal of medical genetics

Published: February 24, 2020

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.

Journal: American journal of medical genetics. Part A

Published: April 18, 2018

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Journal: American journal of human genetics

Published: April 04, 2016

Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.

Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.

Journal: Birth defects research. Part A, Clinical and molecular teratology

Published: July 02, 2015

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.

Journal: Cytogenetic and genome research

Published: June 18, 2015

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Journal: Human molecular genetics

Published: December 10, 2013

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

Journal: Acta neuropathologica

Published: April 21, 2013

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

Journal: Birth defects research. Part A, Clinical and molecular teratology

Published: February 25, 2013

Time-course changes of muscle protein synthesis associated with obesity-induced lipotoxicity.

Time-course changes of muscle protein synthesis associated with obesity-induced lipotoxicity.

Journal: The Journal of physiology

Published: July 18, 2012

Showing 1-9 of 9

Last Updated: 09/26/2026