List of works - Laetitia Gouas

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

article

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

scientific article published on 13 December 2012

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

scientific article published on 27 June 2016

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 ⬇️

scientific article published on July 17, 2013

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

scientific article published on 01 November 2005

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

scientific article published on 6 August 2014

Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects

scientific article

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

scientific article published on 25 November 2014

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

scientific article published on 18 April 2014

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.

scientific article published on 9 December 2010

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region

article

Fetal skin fibroblasts: a cell model for studying the retinoid pathway in congenital diaphragmatic hernia.

scientific article

Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

scientific article published on 02 June 2008

Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p

scientific article published on 01 February 2008

New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.

scientific article

Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage.

scientific article published on 19 September 2015

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

scientific article published on 21 July 2015

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

scientific article published in June 2010

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant

scientific article published on 01 October 2011

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

scientific article published on 7 March 2013

Prevalence of aneuploidies in products of spontaneous abortion: interest of FISH and MLPA.

scientific article published on 16 March 2014

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

scientific article

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

scientific article published on 14 August 2014

Retinoid pathway and congenital diaphragmatic hernia: hypothesis from the analysis of chromosomal abnormalities

scientific article published on 26 May 2010

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

scientific article published on 29 September 2009

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells

scientific article published on 14 December 2017

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage

scientific article published on 09 April 2018

Strong correlation between VEGF and MCL-1 mRNA expression levels in B-cell chronic lymphocytic leukemia.

scientific article

Telomeres and chromosomal instability in chronic lymphocytic leukemia.

scientific article

The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases

scientific article published on 21 December 2007

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

scientific article published in May 2008

[Trisomy 21 and cancers]

scientific article published on 01 October 2012

List of works by Laetitia Gouas

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 ⬇️

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region

Fetal skin fibroblasts: a cell model for studying the retinoid pathway in congenital diaphragmatic hernia.

Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p

New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.

Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage.

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

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

Prevalence of aneuploidies in products of spontaneous abortion: interest of FISH and MLPA.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

Retinoid pathway and congenital diaphragmatic hernia: hypothesis from the analysis of chromosomal abnormalities

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage

Strong correlation between VEGF and MCL-1 mRNA expression levels in B-cell chronic lymphocytic leukemia.

Telomeres and chromosomal instability in chronic lymphocytic leukemia.

The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

[Trisomy 21 and cancers]