Mylene Valduga

7/11 Rue De L'Équerre
95310, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 21 publications

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.

Journal: Frontiers in genetics

Published: February 01, 2024

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.

Journal: Genes

Published: September 24, 2022

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.

Journal: Journal of clinical medicine

Published: July 08, 2020

Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.

Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.

Journal: Frontiers in immunology

Published: April 30, 2019

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.

Journal: Prenatal diagnosis

Published: December 17, 2018

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Journal: European journal of medical genetics

Published: January 18, 2018

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: July 28, 2017

22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis

22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: August 26, 2016

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

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

Journal: European journal of human genetics : EJHG

Published: April 13, 2015

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

Journal: Journal of human genetics

Published: December 11, 2014

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Journal: Journal of medical genetics

Published: November 21, 2014

Showing 1-12 of 21

Last Updated: 09/26/2026