List of works by Annelies de Klein

5q11.2 deletion in a patient with tracheal agenesis

scientific article published on 16 June 2010

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

scientific article published on 23 June 2020

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

scientific article

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques

scientific article

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

scientific article published on 16 December 2013

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.

scientific article published on 15 March 2018

Aberrant MicroRNA Expression and Its Implications for Uveal Melanoma Metastasis

scientific article published on 12 June 2019

Absence of Intraocular Lymphatic Vessels in Uveal Melanomas with Extrascleral Growth

scientific article published on 15 February 2019

Adjuvant Dendritic Cell Vaccination in High-Risk Uveal Melanoma.

scientific article published on 29 July 2016

Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients

scientific article published on 25 August 2005

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

An Acute Cellular Rejection With Detrimental Outcome Occurring Under Belatacept-Based Immunosuppressive Therapy: An Immunological Analysis

scientific article published on 23 November 2015

Association of Uveal Melanoma Metastatic Rate With Stochastic Mutation Rate and Type of Mutation

scientific article published on 01 October 2018

Cellular radiosensitivity of primary and metastatic human uveal melanoma cell lines

scientific article published on 01 August 2002

Chemokine receptor CCR7 expression predicts poor outcome in uveal melanoma and relates to liver metastasis whereas expression of CXCR4 is not of clinical relevance.

scientific article published on 8 November 2013

Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula

scientific article published on 21 January 2007

Chromosomal instability in meningiomas

scientific article published on 01 April 2005

Chromosomal rearrangements in uveal melanoma: Chromothripsis

scientific article published on 30 July 2018

Chromosome 3 intratumor heterogeneity in uveal melanoma

scientific article published on 29 September 2008

Clinical and Cytogenetic Analyses in Uveal Melanoma

scientific article published on 01 September 2006

Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

scientific article

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

scientific article published in June 2005

Clinical geneticists' views of VACTERL/VATER association

scientific article published on 19 November 2012

Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.

scientific article published on 12 January 2018

Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient

scientific article

Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis.

scientific article published on 15 December 2015

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

scientific article published on 01 December 2018

Concurrent Loss of Chromosome Arm 1p and Chromosome 3 Predicts a Decreased Disease-Free Survival in Uveal Melanoma Patients

scientific article published on 01 July 2005

Congenital diaphragmatic hernia and a complex heart defect in association with Wolf–Hirschhorn syndrome ⬇️

scientific article published on 01 November 2010

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association

scientific article published on 25 May 2012

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

scientific article published on 9 November 2011

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

scientific article

Correlation of Gene Mutation Status with Copy Number Profile in Uveal Melanoma

article

Culture expansion induces non-tumorigenic aneuploidy in adipose tissue-derived mesenchymal stromal cells.

scientific article published in November 2013

Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients

scientific article published on 12 March 2020

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

scientific article published on 04 February 2020

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

scientific article published on 5 December 2012

Detection of genetic prognostic markers in uveal melanoma biopsies using fluorescence in situ hybridization

scientific article published on 01 February 2002

Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions

scientific article

Dose Fractionation Effects in Primary and Metastatic Human Uveal Melanoma Cell Lines ⬇️

scientific article published on November 1, 2003

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.

scientific article

Erratum: Corrigendum: Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions

scholarly article published in Nature

Esophageal atresia and tracheoesophageal fistula in children of women exposed to diethylstilbestrol in utero

scientific article published on 01 July 2007

Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".

scientific article published on June 2010

Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma

scholarly article

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

scientific article

Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs

scientific article published on 04 August 2020

Expression of APITD1 is not related to copy number changes of chromosomal region 1p36 or the prognosis of uveal melanoma

scientific article published on 01 November 2007

Expression of the SST receptor 2 in uveal melanoma is not a prognostic marker

scientific article

Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing

scientific article published on 15 May 2020

Gene expression profiling in uveal melanoma: two regions on 3p related to prognosis

scientific article

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient

scientific article published on 14 December 2018

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

scientific article

Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease

scientific article published on 12 July 2019

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

scientific article published on 28 August 2019

Generation of three iPSC lines from two patients with heterozygous FOXF1 mutations associated to Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins

scientific article published on 04 March 2020

Genetic Background of Iris Melanomas and Iris Melanocytic Tumors of Uncertain Malignant Potential

scientific article published on 19 January 2018

Genetics

scientific article published on 01 August 2010

Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing

scientific article published on 30 December 2020

Genetics of uveal melanoma and cutaneous melanoma: two of a kind?

scientific article published on 06 June 2010

Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus

scientific article published on 29 July 2021

Genome-wide aberrant methylation in primary metastatic UM and their matched metastases

scientific article published on 07 January 2022

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia

scientific article published on 08 January 2007

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

scientific article published on May 2011

Higher Percentage of FISH-Determined Monosomy 3 and 8q Amplification in Uveal Melanoma Cells relate to Poor Patient Prognosis

scientific article published on 14 May 2012

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas

scientific article published on 17 November 2020

Histopathologic, Immunohistochemical, Ultrastructural, and Cytogenetic Analysis of Oncocytic Uveal Melanoma

scientific article published on 01 November 2011

Histopathologic, immunohistochemical, and cytogenetic analysis of primary clear cell melanoma of the uvea.

scientific article published in June 2013

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

scientific article published on 27 March 2018

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.

scientific article published on 12 August 2009

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

scientific article

Increased expression of p73Deltaex2 transcript in uveal melanoma with loss of chromosome 1p

scientific article published on 01 June 2008

Increased incidence of hypertrophic pyloric stenosis in esophageal atresia patients.

scientific article

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

scientific article published on 16 April 2020

Linking animal models to human congenital diaphragmatic hernia

scientific article published on August 2007

Lipomatous Change in Uveal Melanoma: Histopathological, Immunohistochemical and Cytogenetic Analysis

scientific article published on 20 November 2015

Long Overall Survival After Dendritic Cell Vaccination in Metastatic Uveal Melanoma Patients

scientific article published on 17 July 2014

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

scientific article

MN1 affects expression of genes involved in hematopoiesis and can enhance as well as inhibit RAR/RXR-induced gene expression

scientific article

Mapping of homozygous deletions in verified esophageal adenocarcinoma cell lines and xenografts

scientific article

Mesenchymal stem cells derived from adipose tissue are not affected by renal disease

scientific article published on 13 June 2012

Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated WithBAP1Mutations

scientific article published on 01 April 2016

Metastatic disease in uveal melanoma: importance of a genetic profile?

scientific article

Models for infantile hypertrophic pyloric stenosis development in patients with esophageal atresia

Molecular Alterations in Dog Pheochromocytomas and Paragangliomas.

scientific article published on 30 April 2019

Molecular cytogenetic analysis of archival uveal melanoma with known clinical outcome

scientific article published on March 2008

More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.

scientific article published on 16 March 2016

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

scientific article

Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients

scientific article published on 01 August 2019

Multicenter External Validation of the Liverpool Uveal Melanoma Prognosticator Online: An OOG Collaborative Study

scientific article published on 18 February 2020

Multicolor FISH with improved sensitivity and specificity in the diagnosis of malignant melanoma.

scientific article published on September 2012

Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.

scientific article published on 20 September 2017

Multiplex ligation-dependent probe amplification equals fluorescence in-situ hybridization for the identification of patients at risk for metastatic disease in uveal melanoma.

scientific article published in February 2012

Mutation of the mouse Rad17 gene leads to embryonic lethality and reveals a role in DNA damage-dependent recombination

scientific journal article

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

scientific article

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

scientific article published on 13 January 2020

Nutrition and genes in the development of orofacial clefting.

scientific article published on June 2006

Overexpression of full-length ETV1 transcripts in clinical prostate cancer due to gene translocation

scientific article

Pain management in intellectually disabled children: Assessment, treatment, and translational research.

scientific article published on January 2010

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted

scientific article published on 24 October 2015

Postmortem findings and clinicopathological correlation in congenital diaphragmatic hernia

scientific article published on 01 September 2004

Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome

scientific article published on 01 November 2004

Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity

Prevalence and implications of TERT promoter mutation in uveal and conjunctival melanoma and in benign and premalignant conjunctival melanocytic lesions.

scientific article published on 26 August 2014

Prognostic parameters in uveal melanoma and their association with BAP1 expression

scientific article

Pulmonary vascular development goes awry in congenital lung abnormalities

scientific article

Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma.

scientific article published on January 2008

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.

scientific article

Regional deletion and amplification on chromosome 6 in a uveal melanoma case without abnormalities on chromosomes 1p, 3 and 8

scientific article published on 01 February 2008

Reply

Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome

scientific article published on 30 January 2020

Retinol status of newborn infants is associated with congenital diaphragmatic hernia

scientific article published on 13 September 2010

Risk factors associated with secondary enucleation after fractionated stereotactic radiotherapy in uveal melanoma

scientific article

SRSF2 Mutations in Uveal Melanoma: A Preference for In-Frame Deletions?

scientific article published on 17 August 2019

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

scientific article

Spliceosome Mutations in Uveal Melanoma

scientific article published on 15 December 2020

Stable X chromosome reactivation in female human induced pluripotent stem cells

scientific article

Structural and numerical changes of chromosome X in patients with esophageal atresia

scientific article

Structural genome variations in individuals with childhood cancer and tumour predisposition syndromes

scientific article published on 6 March 2013

The RAS-BRAF kinase pathway is not involved in uveal melanoma

scientific article published in June 2004

The prognostic value of extraocular extension in relation to monosomy 3 and gain of chromosome 8q in uveal melanoma

scientific article published on 4 March 2014

The use of comparative genomic hybridization and fluorescent in situ hybridization in postmortem pathology investigation of congenital malformations

scientific article published on 01 March 2010

Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

scientific article published in June 2010

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

scientific article published in 2022

Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases

scientific article

Uveal melanoma: Towards a molecular understanding

scientific article published on 26 September 2019

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

scientific article published on 26 June 2020

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

scientific article

Variegated gene expression caused by cell-specific long-range DNA interactions

scientific article published on 26 June 2011

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

scientific article published on 23 October 2013

Paulina is supported by:

About Paulina

Help