Lista de obras - Christiane Zweier - Dominio Público Uruguay

7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder

scientific article published on 04 September 2020

9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.

artículo científico publicado en 2005

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

artículo científico publicado en 2014

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

artículo científico publicado en 2013

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

artículo científico publicado en 2015

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

artículo científico publicado en 2006

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

artículo científico publicado en 2013

A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy

artículo científico publicado en 2020

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila

artículo científico publicado en 2014

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.

artículo científico publicado en 2018

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome

artículo científico publicado en 2018

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

artículo científico publicado en 2018

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

artículo científico publicado en 2019

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

artículo científico publicado en 2017

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

artículo científico publicado en 2015

Clinical and mutational spectrum of Mowat-Wilson syndrome

artículo científico publicado en 2005

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

artículo científico publicado en 2016

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

artículo científico publicado en 2017

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

artículo científico publicado en 2006

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

artículo científico publicado en 2009

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

artículo científico publicado en 2017

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

artículo científico publicado en 2018

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

De novo mutations in the genome organizer CTCF cause intellectual disability.

artículo científico publicado en 2013

De novo triplication of theMAPTgene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies

artículo científico publicado en 2012

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

artículo científico publicado en 2017

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

artículo científico publicado en 2006

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

artículo científico publicado en 2016

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

scientific article published on December 2009

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

artículo científico publicado en 2016

Exome Pool-Seq in neurodevelopmental disorders.

artículo científico publicado en 2017

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

artículo científico publicado en 2016

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

artículo científico

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

artículo científico publicado en 2016

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease

artículo científico publicado en 2004

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

artículo científico

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

artículo científico publicado en 2008

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

artículo científico publicado en 2020

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

artículo científico publicado en 2016

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

artículo científico publicado en 2020

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

artículo científico publicado en 2017

Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders

artículo científico publicado en 2019

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

artículo científico publicado en 2017

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

artículo científico publicado en 2017

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

artículo científico publicado en 2003

Human intellectual disability genes form conserved functional modules in Drosophila.

artículo científico publicado en 2013

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

artículo científico publicado en 2013

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

artículo científico publicado en 2011

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

scientific article published on 18 November 2018

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

artículo científico publicado en 2017

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

artículo científico publicado en 2007

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

artículo científico publicado en 2004

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

artículo científico publicado en 2014

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

artículo científico publicado en 2010

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

artículo científico publicado en 2020

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas

artículo científico publicado en 2009

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

artículo científico publicado en 2018

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome

scientific article published on 01 July 2007

QRICH1 variants in Ververi-Brady syndrome - delineation of the genotypic and phenotypic spectrum

artículo científico publicado en 2020

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

artículo científico publicado en 2017

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

artículo científico publicado en 2005

Skeletal abnormalities are common features in Aymé-Gripp syndrome

artículo científico publicado en 2019

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

artículo científico publicado en 2012

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

artículo científico publicado en 2016

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

artículo científico publicado en 2005

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

artículo científico publicado en 2010

Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome

scientific article published on 01 March 2012

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development

artículo científico publicado en 2008

Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection

artículo científico publicado en 2015

Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination

artículo científico publicado en 2016

Lista de obras de Christiane Zweier

7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder

9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

Clinical and mutational spectrum of Mowat-Wilson syndrome

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

De novo mutations in the genome organizer CTCF cause intellectual disability.

De novo triplication of theMAPTgene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

Exome Pool-Seq in neurodevelopmental disorders.

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

Human intellectual disability genes form conserved functional modules in Drosophila.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome

QRICH1 variants in Ververi-Brady syndrome - delineation of the genotypic and phenotypic spectrum

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

Skeletal abnormalities are common features in Aymé-Gripp syndrome

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development

Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection

Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination