List of works - Yvonne Hilhorst-Hofstee

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features

scientific article published on 8 December 2006

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features

scientific article published in February 2010

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

scientific article published in February 2018

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome

scientific article published on 05 October 2018

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes

scientific article published on 11 June 2010

Age-related and regional changes of aortic stiffness in the Marfan syndrome: assessment with velocity-encoded MRI

scientific article published on 14 July 2011

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants

scientific article published on 23 May 2012

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

scientific article published on 21 August 2012

Biventricular performance in patients with marfan syndrome without significant valvular disease: comparison to normal subjects and longitudinal follow-up

scientific article published on 14 October 2011

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

scientific article

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

scientific article published on 19 November 2009

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

scientific article published on 21 April 2015

Compound-heterozygous Marfan syndrome

scientific article published on 27 November 2008

Correction: Putting genome-wide sequencing in neonates into perspective

scientific article published on 01 September 2019

Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect

scientific article published on 12 July 2011

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

scientific article

Evaluation of sampling density on the accuracy of aortic pulse wave velocity from velocity-encoded MRI in patients with Marfan syndrome

scientific article published on 22 June 2012

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

scientific article published in 2022

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

scientific article published on 7 February 2018

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America

scientific article published on 13 March 2013

Higher Incidence of Hypospadias in Monochorionic Twins

scientific article published on 14 August 2015

Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation

scientific article published on 15 March 2005

Identification of copy number variants associated with BPES-like phenotypes

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.

scientific article published on April 2000

Inflammation aggravates disease severity in Marfan syndrome patients.

scientific article

Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β

scientific article published on 01 August 2019

Intracranial hypertension in 2 children with marfan syndrome

scientific article published on 19 March 2008

MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome

scientific article published on 20 September 2012

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

scientific article published on 01 August 2009

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

article by Ingrid M B H van de Laar et al published February 2011 in Nature Genetics

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

scientific article

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

scientific article published on 19 June 2017

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances

scientific article published on 27 March 2009

Noninvasive test for fragile X syndrome, using hair root analysis

scientific article

Normal regional pulse wave velocity predicts absence of aortic luminal growth in patients with Marfan syndrome: a comprehensive MRI-study

scientific article published in February 2012

Phenotypes and genotypes in individuals with SMC1A variants.

scientific article published on 26 May 2017

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

scientific article published on 02 January 2020

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

article by Ingrid M B H van de Laar et al published 13 December 2011 in Journal of Medical Genetics

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

scientific article

Putting genome-wide sequencing in neonates into perspective

scientific article published on 05 October 2018

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

scientific article published on 01 April 2000

Rapid aortic aneurysm formation in Marfan patient with dissection of the entire aorta.

scientific article published on 5 December 2012

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

scientific article

Relation between age and aortic wall compliance in the Marfan syndrome: evaluation with Velocity-Encoded MRI

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

scientific article published on 12 July 2018

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

article

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

scientific article published on 6 August 2015

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

scientific article

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

scientific article published on 13 November 2019

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

scientific article published on 14 April 2020

The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.

scientific article published in July 1997

The clinical spectrum of complete FBN1 allele deletions

scientific article

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

scientific article

The revised Ghent nosology for the Marfan syndrome

scientific article

Two siblings below the age of 20 years with diverticular disease.

scientific article

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

article

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

article by Tom E J Theunissen et al published 2018 in Frontiers in Genetics

[Multidisciplinary practice guideline 'Marfan syndrome'].

scientific article published in January 2013

List of works by Yvonne Hilhorst-Hofstee

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes

Age-related and regional changes of aortic stiffness in the Marfan syndrome: assessment with velocity-encoded MRI

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Biventricular performance in patients with marfan syndrome without significant valvular disease: comparison to normal subjects and longitudinal follow-up

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

Compound-heterozygous Marfan syndrome

Correction: Putting genome-wide sequencing in neonates into perspective

Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

Evaluation of sampling density on the accuracy of aortic pulse wave velocity from velocity-encoded MRI in patients with Marfan syndrome

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America

Higher Incidence of Hypospadias in Monochorionic Twins

Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation

Identification of copy number variants associated with BPES-like phenotypes

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.

Inflammation aggravates disease severity in Marfan syndrome patients.

Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β

Intracranial hypertension in 2 children with marfan syndrome

MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances

Noninvasive test for fragile X syndrome, using hair root analysis

Normal regional pulse wave velocity predicts absence of aortic luminal growth in patients with Marfan syndrome: a comprehensive MRI-study

Phenotypes and genotypes in individuals with SMC1A variants.

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Putting genome-wide sequencing in neonates into perspective

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

Rapid aortic aneurysm formation in Marfan patient with dissection of the entire aorta.

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

Relation between age and aortic wall compliance in the Marfan syndrome: evaluation with Velocity-Encoded MRI

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.

The clinical spectrum of complete FBN1 allele deletions

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

The revised Ghent nosology for the Marfan syndrome

Two siblings below the age of 20 years with diverticular disease.

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

[Multidisciplinary practice guideline 'Marfan syndrome'].