Vincent Gâtinois
YOU?
Author Swipe
View article: Chromoplexy: A Pathway to Genomic Complexity and Cancer Development
Chromoplexy: A Pathway to Genomic Complexity and Cancer Development Open
Chromoplexy is a phenomenon of complex genome rearrangement, occurring during a single cell event and characterized by the formation of chain rearrangements affecting multiple chromosomes. Unlike other genomic rearrangements such as chromo…
View article: <i>De Novo</i> Balanced Translocations Disrupting the <scp> <i>FBN1</i> </scp> Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling
<i>De Novo</i> Balanced Translocations Disrupting the <span> <i>FBN1</i> </span> Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling Open
Marfan syndrome (MFS) is a well‐characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single‐nucleotide variants (SNVs) in the FBN1 gene (MIM#…
View article: Quantification of Female Chimeric Cells in the Tonsils of Male Children and Their Determinants
Quantification of Female Chimeric Cells in the Tonsils of Male Children and Their Determinants Open
The factors influencing mother-to-child cell trafficking and persistence over children’s lives have yet to be established. The quantification of maternal microchimerism was previously reported through HLA-based approaches, which introduced…
View article: 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients Open
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chr…
View article: Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases
Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases Open
Purpose Despite exome (ES) or genome sequencing (GS) availability, chromosomal microarray (CMA) remains the first-line diagnostic tests in most rare disorders diagnostic work-up, looking for Copy-number variations (CNV), with a diagnostic …
View article: AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis Open
With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of genomic data including millions of small variants (SNV/indel) but also thousands of structural variations (SV) mainly from next-generation …
View article: iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS
iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS Open
Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease that manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increase…
View article: Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation
Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation Open
Introduction Noninvasive prenatal testing (NIPT) using cell‐free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared with both ultraso…
View article: Chromoanagenesis: a piece of the macroevolution scenario
Chromoanagenesis: a piece of the macroevolution scenario Open
Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes have been identified in cancer cells as well as in patients with congenital diseases and hea…
View article: iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity. Open
Bloom syndrome is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. The diagnosis is established on…
View article: Growth charts in Kabuki syndrome 1
Growth charts in Kabuki syndrome 1 Open
Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A . KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently repo…
View article: A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia
A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia Open
Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPS…
View article: Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations Open
Background Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus w…
View article: Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length
Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length Open
Werner syndrome (WS) is a rare human autosomal recessive disorder characterized by early onset of aging-associated diseases, chromosomal instability, and cancer predisposition, without therapeutic treatment solution. Major clinical symptom…
View article: Anatomical and functional abnormalities on MRI in kabuki syndrome
Anatomical and functional abnormalities on MRI in kabuki syndrome Open
Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D…
View article: Chromoanasynthesis: another way for the formation of complex chromosomal abnormalities in human reproduction
Chromoanasynthesis: another way for the formation of complex chromosomal abnormalities in human reproduction Open
Chromoanasynthesis has been described as a novel cause of massive constitutional chromosomal rearrangements. Based on DNA replication machinery defects, chromoanasynthesis is characterized by the presence of chromosomal duplications and tr…