List of works - Sandra Chantot-Bastaraud

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

scientific article published on 26 October 2016

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations

scientific article published on 04 October 2018

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.

scientific article published on 31 December 2010

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

scientific article published on 7 May 2015

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

scientific article published on 27 July 2016

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

scientific article

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders

scientific article published on September 2014

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

scientific article

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

scientific article

Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome.

scientific article published on 11 April 2018

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

scientific article published on 9 June 2017

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

scientific article published in July 2004

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

scientific article published on 8 March 2017

Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers

scientific article published on 30 April 2013

Discovery of a large deletion of KAL1 in 2 deaf brothers

scientific article published in December 2013

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

scientific article

Finding a single XY cell among XX cells in amniotic fluid by FISH: a possible consequence of a vanishing male twin?

scientific article

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

scientific article

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure.

scientific article published in January 2006

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

scientific article published on 3 April 2015

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

scientific article

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

scientific article published on 12 November 2017

Immunolocalization and cell expression of lung resistance-related protein (LRP) in normal and tumoral human respiratory cells

scientific article published on 16 April 2007

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

scientific article published on 26 November 2014

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

scientific article

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness

scientific article published on 25 May 2017

Multidrug resistance-associated protein (MRP1) is overexpressed in DNA aneuploid carcinomatous cells in non-small cell lung cancer (NSCLC).

scientific article published in February 2005

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

scientific article published on 24 January 2018

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

scientific article published on 20 August 2015

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

scientific article

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling

scientific article published on March 2003

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

scientific article published on May 2013

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)

scientific article published on 21 April 2015

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

scientific article published on 24 July 2013

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

scientific article published on 17 March 2009

Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers

scientific article published on 4 January 2013

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

scientific article

Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination

scientific article published on 25 August 2011

Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection.

scientific article

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

scientific article published on 19 November 2014

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

scientific article published on 23 April 2015

Y chromosome variants and male reproductive function

scientific article

Y-chromosome AZFc structural architecture and relationship to male fertility.

scientific article published on 6 November 2008

List of works by Sandra Chantot-Bastaraud

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome.

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers

Discovery of a large deletion of KAL1 in 2 deaf brothers

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

Finding a single XY cell among XX cells in amniotic fluid by FISH: a possible consequence of a vanishing male twin?

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure.

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Immunolocalization and cell expression of lung resistance-related protein (LRP) in normal and tumoral human respiratory cells

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness

Multidrug resistance-associated protein (MRP1) is overexpressed in DNA aneuploid carcinomatous cells in non-small cell lung cancer (NSCLC).

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination

Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection.

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

Y chromosome variants and male reproductive function

Y-chromosome AZFc structural architecture and relationship to male fertility.