Lista de obras - Bert Callewaert - Dominio Público Uruguay

A clinical scoring system for congenital contractural arachnodactyly

scientific article published on 18 July 2019

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

scientific article published on 11 November 2019

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review

artículo científico publicado en 2017

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

artículo científico publicado en 2017

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

artículo científico publicado en 2018

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

artículo científico publicado en 2008

Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model

artículo científico publicado en 2014

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

artículo científico publicado en 2010

Aneurysm syndromes caused by mutations in the TGF-beta receptor

artículo científico publicado en 2006

Arterial Tortuosity Syndrome

artículo científico publicado en 1993

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

scientific article published on 14 November 2019

Arterial tortuosity syndrome: 40 new families and literature review

artículo científico publicado en 2018

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

artículo científico publicado en 2008

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

artículo científico publicado en 2016

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

artículo científico publicado en 2018

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

article

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

artículo científico publicado en 2020

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

artículo científico publicado en 2009

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

artículo científico publicado en 2008

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

artículo científico publicado en 2012

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

artículo científico publicado en 2009

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

artículo científico publicado en 2012

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

artículo científico publicado en 2017

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

artículo científico publicado en 2014

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

artículo científico publicado en 2008

Correction: Arterial tortuosity syndrome: 40 new families and literature review

artículo científico publicado en 2019

Cutis laxa: a comprehensive overview of clinical characteristics and pathophysiology

artículo científico publicado en 2020

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

artículo científico publicado en 2019

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients

artículo científico publicado en 2019

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

artículo científico publicado en 2013

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

artículo científico publicado en 2020

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

artículo científico publicado en 2019

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

artículo científico publicado en 2020

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

artículo científico publicado en 2015

Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?

scientific article published on 26 April 2019

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

artículo científico publicado en 2007

Ehlers-Danlos syndromes and Marfan syndrome

artículo científico publicado en 2008

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

artículo científico publicado en 2014

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

artículo científico publicado en 2020

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

artículo científico publicado en 2014

FOXP1-related intellectual disability syndrome: a recognisable entity

artículo científico publicado en 2017

Fibromuscular dysplasia - results of a multicentre study in Flanders.

artículo científico publicado en 2017

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

artículo científico publicado en 2011

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts

artículo científico publicado en 2017

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients

artículo científico publicado en 2015

Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice

artículo científico publicado en 2013

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

artículo científico publicado en 2017

Genetics in congenital heart disease. Are we ready for it?

artículo científico publicado en 2020

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

artículo científico publicado en 2016

IQSEC2 disorder: a new disease entity or a Rett spectrum continuum?

artículo científico publicado en 2020

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies

artículo científico publicado en 2022

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

artículo científico publicado en 2012

LTBP4-Related Cutis Laxa

artículo científico publicado en 1993

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects ⬇️

journal article from 'Human Genetics' published in 2022

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections

artículo científico

Mowat-Wilson syndrome: growth charts

artículo científico publicado en 2020

Mutation update for the SATB2 gene

article

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

artículo científico publicado en 2016

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

scientific article published on 01 August 2020

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

artículo científico publicado en 2017

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

artículo científico publicado en 2006

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum

scientific article published on 09 October 2019

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

artículo científico publicado en 2014

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

artículo científico publicado en 2016

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.

artículo científico publicado en 2013

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

artículo científico publicado en 2011

New insights on the clinical variability of FKBP10 mutations

artículo científico publicado en 2020

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

artículo científico publicado en 2011

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

scientific article published on 17 May 2020

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series

artículo científico

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

artículo científico publicado en 2013

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

artículo científico publicado en 2015

Proteinase inhibitors TPCK and TLCK prevent Entamoeba histolytica induced disturbance of tight junctions and microvilli in enteric cell layers in vitro.

artículo científico publicado en 2004

Proteolysis of enteric cell villin by Entamoeba histolytica cysteine proteinases

artículo científico publicado en 2003

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

scientific article published in Scientific Reports

RIN2 syndrome: Expanding the clinical phenotype

artículo científico publicado en 2016

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

scientific journal article

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

artículo científico publicado en 2019

Recurrent duplications of 17q12 associated with variable phenotypes.

artículo científico publicado en 2015

Redefining the MED13L syndrome

artículo científico publicado en 2015

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

artículo científico publicado en 2020

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

artículo científico publicado en 2014

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.

artículo científico publicado en 2015

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

artículo científico publicado en 2010

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

scientific article published on 20 April 2020

Small patella syndrome: New clinical and molecular insights into a consistent phenotype

artículo científico publicado en 2017

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guide

artículo científico publicado en 2018

The Genetics of Soft Connective Tissue Disorders.

artículo científico

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

artículo científico publicado en 2015

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

The new Ghent criteria for Marfan syndrome: what do they change?

artículo científico publicado en 2011

The revised Ghent nosology for the Marfan syndrome

artículo científico publicado en 2010

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

artículo científico publicado en 2012

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

artículo científico publicado en 2013

Unusual 8p inverted duplication deletion with telomere capture from 8q.

artículo científico publicado en 2008

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

scientific article published on 25 February 2020

Lista de obras de Bert Callewaert

A clinical scoring system for congenital contractural arachnodactyly

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Aneurysm syndromes caused by mutations in the TGF-beta receptor

Arterial Tortuosity Syndrome

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

Arterial tortuosity syndrome: 40 new families and literature review

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Correction: Arterial tortuosity syndrome: 40 new families and literature review

Cutis laxa: a comprehensive overview of clinical characteristics and pathophysiology

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

Ehlers-Danlos syndromes and Marfan syndrome

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

FOXP1-related intellectual disability syndrome: a recognisable entity

Fibromuscular dysplasia - results of a multicentre study in Flanders.

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients

Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Genetics in congenital heart disease. Are we ready for it?

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

IQSEC2 disorder: a new disease entity or a Rett spectrum continuum?

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

LTBP4-Related Cutis Laxa

Lessons learned from 40 novel PIGA patients and a review of the literature

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects ⬇️

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections

Mowat-Wilson syndrome: growth charts

Mutation update for the SATB2 gene

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

New insights on the clinical variability of FKBP10 mutations

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

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

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Proteinase inhibitors TPCK and TLCK prevent Entamoeba histolytica induced disturbance of tight junctions and microvilli in enteric cell layers in vitro.

Proteolysis of enteric cell villin by Entamoeba histolytica cysteine proteinases

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment