Bettina Bessières
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View article: Dissecting the epigenetic regulation of the fetal hemoglobin genes to unravel a novel therapeutic approach for β-hemoglobinopathies
Dissecting the epigenetic regulation of the fetal hemoglobin genes to unravel a novel therapeutic approach for β-hemoglobinopathies Open
Beta-hemoglobinopathies are severe genetic diseases caused by mutations affecting the production of the adult β-globin chain. The clinical severity is mitigated by the co-inheritance of mutations that reactivate the production of the fetal…
View article: Histologic and molecular features shared between antibody‐mediated rejection of kidney allografts and chronic histiocytic intervillositis support common pathogenesis
Histologic and molecular features shared between antibody‐mediated rejection of kidney allografts and chronic histiocytic intervillositis support common pathogenesis Open
Chronic histiocytic intervillositis (CHI) is an inflammatory condition of the placenta, characterised by an abnormal, mainly macrophagic infiltrate within the intervillous space. Recent research suggests that CHI results from a ‘maternal‐f…
View article: <i>COG6</i><scp>‐related</scp> prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature
<i>COG6</i><span>‐related</span> prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature Open
Background CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated. Only 8 of the 28 published p…
View article: An exceptional anomaly of the coronary venous drainage: anatomic description
An exceptional anomaly of the coronary venous drainage: anatomic description Open
Background: Anomalies of the coronary sinus are rare in the general population but are more frequent in patients with congenital heart defects. Whatever the cardiac anatomy, the coronary sinus is invariably located in the left atrioventric…
View article: Morphological and genetic causes of fetal cardiomyopathies
Morphological and genetic causes of fetal cardiomyopathies Open
Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the…
View article: Two novel variations p.(<scp>Ser1275Thr</scp>) and p.(<scp>Ser1275Arg</scp>) in <scp><i>FLT4</i></scp> causing prenatal hereditary lymphedema type 1
Two novel variations p.(<span>Ser1275Thr</span>) and p.(<span>Ser1275Arg</span>) in <span><i>FLT4</i></span> causing prenatal hereditary lymphedema type 1 Open
Background Hereditary lymphedema 1 is a rare congenital condition, characterized by the development of chronic swelling in body parts. It is highly variable in expression and age of onset with different presentations: from feet edema to hy…
View article: Biallelic <scp><i>THOC6</i></scp> pathogenic variants: Prenatal phenotype and review of the literature
Biallelic <span><i>THOC6</i></span> pathogenic variants: Prenatal phenotype and review of the literature Open
Background The THOC6 protein is a component of the THO complex. It is involved in mRNA transcription, processing and nuclear export. Interestingly molecular biallelic loss‐of‐function variants of the THOC6 gene were identified in the Beaul…
View article: Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Open
Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates …
View article: Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene <scp> <i>PAFAH1B1</i> </scp> encoding <scp>LIS1</scp> in neural stem cells and congenitally infected brains
Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene <span> <i>PAFAH1B1</i> </span> encoding <span>LIS1</span> in neural stem cells and congenitally infected brains Open
Congenital infection of the central nervous system by human cytomegalovirus (HCMV) is a leading cause of permanent sequelae, including mental retardation or neurodevelopmental abnormalities. The most severe complications include smooth bra…
View article: Adaptive and Innate Immune Cells in Fetal Human Cytomegalovirus-Infected Brains
Adaptive and Innate Immune Cells in Fetal Human Cytomegalovirus-Infected Brains Open
Background: The understanding of the pathogenesis of cytomegalovirus (CMV)-induced fetal brain lesions is limited. We aimed to quantify adaptive and innate immune cells and CMV-infected cells in fetal brains with various degrees of brain d…
View article: Congenitally corrected transposition of the great arteries: is it really a transposition? An anatomical study of the right ventricular septal surface
Congenitally corrected transposition of the great arteries: is it really a transposition? An anatomical study of the right ventricular septal surface Open
Congenitally corrected transposition of the great arteries (cc TGA ) is a rare congenital malformation which associates discordant atrioventricular and ventriculo‐arterial connections. Although frequently associated with a ventricular sept…
View article: A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus
A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus Open
Background The recent outbreak of Zika virus ( ZIKV ) infection and the associated increased prevalence of microcephaly in Brazil underline the impact of viral infections on embryo fetal development. The aim of the present study is to prov…
View article: Two-Port Fetoscopic Repair of Myelomeningocele in Fetal Lambs
Two-Port Fetoscopic Repair of Myelomeningocele in Fetal Lambs Open
Objective: The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) repair with a running single suture using a 2-port access in the sheep model. Methods: Eighteen fetuses underwent s…
View article: A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency Open
Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damag…
View article: Author response: A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency
Author response: A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency Open
Article Figures and data Abstract eLife digest Introduction Results Discussion Materials and methods References Decision letter Author response Article and author information Metrics Abstract Primary Ovarian Insufficiency (POI) affects ~1%…
View article: Poster Abstracts of the ISPD 21st International Conference on Prenatal Diagnosis and Therapy, San Diego, California, USA, 9‐12 July 2017
Poster Abstracts of the ISPD 21st International Conference on Prenatal Diagnosis and Therapy, San Diego, California, USA, 9‐12 July 2017 Open
OBJECTIVES: Structural chromosome aberrations occurring in chromosome damage cannot be restored to the original structure.Due to the chromosome breaks occur structural changes.Further, they are connected in an anomalous combination.Chromos…
View article: PPARγ Is Activated during Congenital Cytomegalovirus Infection and Inhibits Neuronogenesis from Human Neural Stem Cells
PPARγ Is Activated during Congenital Cytomegalovirus Infection and Inhibits Neuronogenesis from Human Neural Stem Cells Open
Congenital infection by human cytomegalovirus (HCMV) is a leading cause of permanent sequelae of the central nervous system, including sensorineural deafness, cerebral palsies or devastating neurodevelopmental abnormalities (0.1% of all bi…