List of works - Frederique Sloan Bena

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

scientific article published on 7 November 2015

A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features

scientific article published in August 2007

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

scientific article published on 23 February 2010

A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes

scientific article

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation

scientific article published on 01 August 2010

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

scientific article published on 21 October 2008

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

scientific article published on 18 August 2014

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

scientific article

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

scientific article published on April 2012

Genomic, Proteomic and Phenotypic Heterogeneity in HeLa Cells across Laboratories: Implications for Reproducibility of Research Results

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

scientific article

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

scientific article published on 10 November 2011

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

scientific article

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children ⬇️

scientific article published on April 1, 2011

Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations

scientific article published in May 2010

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

scientific article published on 27 December 2013

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

scientific article published on 26 March 2013

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events

article

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

scientific article published on 7 March 2017

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

scientific article

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

scientific article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients

scientific article published in August 2008

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

scientific article published on 15 June 2012

List of works by Frederique Sloan Bena

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Genomic, Proteomic and Phenotypic Heterogeneity in HeLa Cells across Laboratories: Implications for Reproducibility of Research Results

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children ⬇️

Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.