List of works - Jerome Toutain

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype

scientific article published on 03 December 2011

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

scientific article published on 28 November 2017

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

scientific article

A freehand ultrasonographically guided technique in transabdominal chorionic villus sampling in more than 24 000 consecutive cases

scientific article published on 01 April 2010

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

scientific article published on 3 October 2012

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman

scientific article published on 05 January 2011

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

scientific article published on 08 March 2019

Comment on "Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome"

scientific article published on 01 March 2013

Comment on "QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first-trimester prenatal diagnoses".

scientific article

Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3.

scientific article published on December 2010

Confined placental mosaicism revisited: Impact on pregnancy characteristics and outcome.

scientific article published on 12 April 2018

Critical role of Aquaporin-1 and telocytes in infantile hemangioma response to propranolol beta blockade

scientific article published in 2021

Determination of linezolid in plasma and bronchoalveolar lavage by high-performance liquid chromatography with ultraviolet detection using a fully automated extraction method.

scientific article published in December 2004

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

scientific article published on 5 January 2012

Evaluation of Quantitative Fluorescence in situ Hybridization for Relative Measurement of Telomere Length in Placental Mesenchymal Core Cells

scientific article published on 20 May 2015

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication

scientific article published on 20 July 2013

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations

scientific article published on 11 January 2019

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

scientific article

First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies

scientific article published on 04 January 2010

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

scientific article published on 23 October 2013

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

scientific article

Identification of a complex 17q rearrangement in a metanephric stromal tumor

scientific article published on 01 June 2011

Interest of Chromosomal Microarray Analysis in the prenatal diagnosis of fetal intrauterine growth restriction

scientific article published on 22 November 2018

Labeling and qualification of endothelial progenitor cells for tracking in tissue engineering: An in vitro study.

scientific article published in April 2015

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

scientific article published on 29 April 2014

Pediatric lymphomas diagnosis after needle biopsy in Abidjan: value of cytology versus MYC translocation examination

scientific article published on 20 January 2012

Pharmacokinetics and intrapulmonary concentrations of linezolid administered to critically ill patients with ventilator-associated pneumonia

scientific article published in July 2005

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

scientific article published on 16 September 2014

Prenatal diagnosis on chorionic villi using molecular techniques should be performed from mesenchymal core rather than from direct villi

scientific article published on 01 November 2011

Prenatal diagnosis using array-CGH: a French experience.

scientific article

Proportion of parents agreeing to delay fetal karyotyping until the third trimester of pregnancy in cases with an indication

scientific article published on 31 January 2012

Reduced placental telomere length during pregnancies complicated by intrauterine growth restriction.

scientific article

The association between the T309G polymorphism of the MDM2 gene and sensitivity to anticancer drug is dependent on the p53 mutational status in cellular models.

scientific article published on 09 June 2009

Type 3 confined placental mosaicisms excluding trisomies 16 are also associated with adverse pregnancy outcomes

scientific article published on 01 October 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

scientific article published on 28 March 2019

[Confined placental mosaicisms a priori from meiotic origin: analysis of 10 cases]

scientific article published on 01 February 2011

[Reflections on the "feasibility of chorionic villus sampling outside referral prenatal diagnosis centers"]

scientific article published on 14 June 2011

[Risk of confined placental mosaicism after assisted reproductive technologies]

scientific article published on 29 December 2017

List of works by Jerome Toutain

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

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

A freehand ultrasonographically guided technique in transabdominal chorionic villus sampling in more than 24 000 consecutive cases

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Comment on "Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome"

Comment on "QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first-trimester prenatal diagnoses".

Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3.

Confined placental mosaicism revisited: Impact on pregnancy characteristics and outcome.

Critical role of Aquaporin-1 and telocytes in infantile hemangioma response to propranolol beta blockade

Determination of linezolid in plasma and bronchoalveolar lavage by high-performance liquid chromatography with ultraviolet detection using a fully automated extraction method.

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Evaluation of Quantitative Fluorescence in situ Hybridization for Relative Measurement of Telomere Length in Placental Mesenchymal Core Cells

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

Identification of a complex 17q rearrangement in a metanephric stromal tumor

Interest of Chromosomal Microarray Analysis in the prenatal diagnosis of fetal intrauterine growth restriction

Labeling and qualification of endothelial progenitor cells for tracking in tissue engineering: An in vitro study.

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

Pediatric lymphomas diagnosis after needle biopsy in Abidjan: value of cytology versus MYC translocation examination

Pharmacokinetics and intrapulmonary concentrations of linezolid administered to critically ill patients with ventilator-associated pneumonia

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

Prenatal diagnosis on chorionic villi using molecular techniques should be performed from mesenchymal core rather than from direct villi

Prenatal diagnosis using array-CGH: a French experience.

Proportion of parents agreeing to delay fetal karyotyping until the third trimester of pregnancy in cases with an indication

Reduced placental telomere length during pregnancies complicated by intrauterine growth restriction.

The association between the T309G polymorphism of the MDM2 gene and sensitivity to anticancer drug is dependent on the p53 mutational status in cellular models.

Type 3 confined placental mosaicisms excluding trisomies 16 are also associated with adverse pregnancy outcomes

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

[Confined placental mosaicisms a priori from meiotic origin: analysis of 10 cases]

[Reflections on the "feasibility of chorionic villus sampling outside referral prenatal diagnosis centers"]

[Risk of confined placental mosaicism after assisted reproductive technologies]