List of works - Caroline Schluth-Bolard

16q12.2q21: A new susceptibility locus for schizophrenia?

scientific article published on 8 September 2016

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

scientific article published in May 2010

A 14q distal chromoanagenesis elucidated by whole genome sequencing

scientific article published on 25 September 2019

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

scientific article published on 3 March 2016

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

scientific article published on 25 November 2014

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

scientific article published on 01 December 2021

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

scientific article published on 07 December 2011

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

scientific article published on 01 November 2019

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

scientific article

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

scientific article published on 12 January 2013

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.

scientific article published on 16 December 2015

Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies"

scientific article published on 20 May 2019

Complete Human and Rat Ex Vivo Spermatogenesis from Fresh or Frozen Testicular Tissue

scientific article published on 31 August 2016

Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management

scientific article published on 01 January 2019

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.

scientific article

Distal Xq duplication and functional Xq disomy.

scientific article published on 20 February 2009

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

scientific article published on 07 October 2019

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

scientific article published on 7 September 2017

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

scientific article

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

scientific article published on 5 August 2013

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

scientific article published on 05 April 2019

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

scientific article published on 31 May 2019

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

scientific article

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

scientific article

Optical genome mapping enables constitutional chromosomal aberration detection

scientific article published on 07 July 2021

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

scientific article published on 27 August 2019

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences

scientific article published on 22 December 2017

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

scientific article published on 20 May 2019

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

scientific article published on 21 May 2019

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

article

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway.

scientific article published on 22 February 2013

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

scientific article published on 01 November 2009

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

scientific article published on 28 March 2019

[New chromosomal syndromes]

scientific article published on 07 May 2008

[New technologies for the human genome exploration]

scientific article published on 16 September 2010

List of works by Caroline Schluth-Bolard

16q12.2q21: A new susceptibility locus for schizophrenia?

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

A 14q distal chromoanagenesis elucidated by whole genome sequencing

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.

Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies"

Complete Human and Rat Ex Vivo Spermatogenesis from Fresh or Frozen Testicular Tissue

Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.

Distal Xq duplication and functional Xq disomy.

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

Optical genome mapping enables constitutional chromosomal aberration detection

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway.

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

[New chromosomal syndromes]

[New technologies for the human genome exploration]