List of works - Brigitte Gilbert-Dussardier

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A

scientific article published on 06 July 2020

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients

scientific article published on 14 January 2015

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

scientific article published on 01 January 1996

A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients

scientific article published on 09 July 2019

A germline mutation in PBRM1 predisposes to renal cell carcinoma

scientific article

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

scientific article

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

article

A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.

scientific article published in May 1994

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

scientific article published on February 1995

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

scientific article

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

scientific article published on 4 October 2014

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

scientific article published on 28 September 2012

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability

scientific article published on 21 July 2016

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

scientific article published on 01 March 2019

Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output

scientific article

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

scientific article

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

scientific article

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

scientific article published on 25 March 2013

Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis

scientific article published on 25 October 2011

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

scientific article published on 12 March 2020

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

scientific article published on 22 July 2016

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

scientific article published on 19 May 2020

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

scientific article published on 11 January 2016

Delineation of 15q13.3 microdeletions.

scientific article published on 09 February 2010

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

scientific article

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

scientific article published on 01 June 2006

Dose - response relationship of bevacizumab in hereditary hemorrhagic telangiectasia

scientific article

Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia: A Randomized Clinical Trial.

scientific article published on September 2016

Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria

scientific article published on 03 March 2012

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

scientific article published on July 2013

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

scientific article published on 13 July 2018

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

scientific article published on 13 March 2017

Finger creases lend a hand in Kabuki syndrome.

scientific article

Four-Year Follow-up of Diagnostic Service in USH1 Patients

scientific article published on 08 June 2011

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

scientific journal article

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

scientific article published on 8 January 2007

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

scientific article

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

scientific article

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

scientific article published in December 2009

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network

scientific article

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

scientific article published on 01 February 2007

Growth charts in Kabuki syndrome 1

scientific article published on 26 December 2019

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

scientific article published on 18 January 2013

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

scientific article published on 23 October 2013

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

scientific article published on 28 October 2009

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

scientific article published on 8 February 2017

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies

scientific article

Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases

scientific article

Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial

scientific article published on 28 May 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

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 and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

scientific article published on 01 August 2007

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

scientific article

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

scientific article

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

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

scientific article published on 11 June 2015

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

scientific article (publication date: July 2014)

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

scientific article

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

scientific article published on 21 January 2011

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

article

Nemaline myopathy in the neonate: two case reports

scientific article published on 01 June 1996

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

scientific article published on 12 March 2011

One NF1 Mutation may Conceal Another

scientific article published on 22 August 2019

Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion

scientific article published on 15 August 2013

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

scientific article published on 01 January 1996

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

scientific article published on 27 November 2017

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

scientific article published on 18 April 2013

Prenatal diagnosis of Williams syndrome based on ultrasound signs

scientific article published on 01 July 2009

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome

scientific article published on 9 April 2016

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

scientific article published on 21 April 2015

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

scientific article published on 27 January 2014

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis

scientific article

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

scientific article

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

scientific article published on 22 September 2020

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

scientific article published on 14 June 2017

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

scientific article published on 03 June 2020

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

scientific article published on 15 July 2013

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

scientific article published on 21 July 2017

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

scientific article published on 14 January 2016

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

scientific article

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

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

scientific article published in August 2005

[Molecular biology usefulness for rapid diagnosis of Down's syndrome and common aneuploidies]

scientific article published on 01 July 2009

[Oguchi disease or stationary congenital night blindness: a case report]

scientific article published on 01 January 2007

[Williams-Beuren syndrome: a multidisciplinary approach].

scientific article published on 18 December 2008

[Williams-Beuren syndrome].

scientific article

List of works by Brigitte Gilbert-Dussardier

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients

A germline mutation in PBRM1 predisposes to renal cell carcinoma

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Delineation of 15q13.3 microdeletions.

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

Dose - response relationship of bevacizumab in hereditary hemorrhagic telangiectasia

Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia: A Randomized Clinical Trial.

Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

Finger creases lend a hand in Kabuki syndrome.

Four-Year Follow-up of Diagnostic Service in USH1 Patients

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

Growth charts in Kabuki syndrome 1

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies

Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases

Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

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

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

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

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Nemaline myopathy in the neonate: two case reports

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

One NF1 Mutation may Conceal Another

Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

Prenatal diagnosis of Williams syndrome based on ultrasound signs

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome

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

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?