Nathalie Leporrier

Avenue Côte De Nacre, 14033 Caen Cedex 9
Caen, 14033, France

Last Updated: 09/26/2026

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Found 11 publications

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Journal: Prenatal diagnosis

Published: September 27, 2015

Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy.

Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy.

Journal: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine

Published: December 28, 2014

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

Journal: Prenatal diagnosis

Published: April 16, 2014

Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.

Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.

Journal: Molecular genetics and metabolism

Published: February 21, 2014

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Journal: Clinical case reports

Published: September 10, 2013

Pai syndrome: challenging prenatal diagnosis and management.

Pai syndrome: challenging prenatal diagnosis and management.

Journal: Pediatric radiology

Published: August 09, 2013

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

Journal: European journal of medical genetics

Published: May 14, 2013

Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.

Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.

Journal: Journal of clinical ultrasound : JCU

Published: April 04, 2013

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: March 30, 2013

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Journal: European journal of human genetics : EJHG

Published: October 18, 2012

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Journal: American journal of medical genetics. Part A

Published: September 27, 2012

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Last Updated: 09/26/2026