List of works by Leendert Looijenga

45,X/46,X,psu dic(Y) gonadal dysgenesis: influence of the two cell lines on the clinical phenotype, including gonadal histology

scientific article published on 13 November 2013

A 40-year-old woman with a progressive periventricular white matter lesion

scientific article published on 01 January 2008

A MicroRNA Panel in Pancreatic Cyst Fluid for the Risk Stratification of Pancreatic Cysts in a Prospective Cohort

scientific article published on January 2016

A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1, and ZNF358 Demonstrated Using Exome Sequencing.

scientific article

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

scientific article published on September 19, 2010

A genome-wide RNAi screen in mouse embryonic stem cells identifies Mp1 as a key mediator of differentiation.

scientific article published on 5 December 2011

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

scientific article published on 9 November 2011

A novel AMH missense mutation in a patient with persistent Müllerian duct syndrome

scientific article published on 11 July 2012

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.

scientific article

A pathologist's view on the testis biopsy.

scientific article published on August 2011

A pure triphasic testicular wilms tumor of primordial germ cell origin

scientific article published on 02 April 2008

Aberrant SOX2 expression in colorectal cancers does not correlate with mucinous differentiation and gastric mucin MUC5AC expression.

scientific article published on 10 August 2014

Aberrant expression of multiple hormone receptors in ACTH-independent macronodular adrenal hyperplasia causing Cushing's syndrome.

scientific article published on 11 May 2010

Aberrant p53 protein expression is associated with an increased risk of neoplastic progression in patients with Barrett's oesophagus

scientific article published on 20 December 2012

Absent and abundant MET immunoreactivity is associated with poor prognosis of patients with oral and oropharyngeal squamous cell carcinoma

scientific article published on 20 February 2016

Accurate primary germ cell cancer diagnosis using serum based microRNA detection (ampTSmiR test).

scientific article published on 27 July 2016

Adrenal Cushing's syndrome during pregnancy

scientific article published on 17 August 2017

Advances in molecular markers of germ cell cancer in patients with disorders of sex development.

scientific article published on 09 September 2014

An oncofetal and developmental perspective on testicular germ cell cancer.

scientific article

Aneuploidy of human testicular germ cell tumors is associated with amplification of centrosomes.

scientific article published in June 2003

Application of miRNAs in the diagnosis and monitoring of testicular germ cell tumours

scientific article published on 10 March 2020

Application of the new classification on patients with a disorder of sex development in indonesia.

scientific article

Are all testicular seminomas of animals in fact spermatocytic seminomas?

scientific article published on 01 January 2007

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

scientific article published on 26 October 2017

Bilateral testicular microlithiasis predicts the presence of the precursor of testicular germ cell tumors in subfertile men

scientific article published on 01 January 2004

Breast Cancer Anti-Estrogen Resistance 4 (BCAR4) Drives Proliferation of IPH-926 lobular Carcinoma Cells

scientific article published on 28 August 2015

CRIPTO and miR-371a-3p Are Serum Biomarkers of Testicular Germ Cell Tumors and Are Detected in Seminal Plasma from Azoospermic Males

scientific article published on 23 March 2020

Cancer stem cells, pluripotency, and cellular heterogeneity: a WNTer perspective

scientific article published on January 2014

Cell-free MicroRNA miR-505-3p in Graft Preservation Fluid Is an Independent Predictor of Delayed Graft Function After Kidney Transplantation

scientific article published on 01 February 2019

Chromosomal anomalies in oligodendroglial tumors are correlated with clinical features.

scientific article published in March 2003

Chromosomes and expression in human testicular germ-cell tumors: insight into their cell of origin and pathogenesis.

scientific article

Clinical impact of germ cell tumor cells in apheresis products of patients receiving high-dose chemotherapy

scientific article published on 01 June 2001

Clinical utility of plasma miR-371a-3p in germ cell tumors

scientific article published on 07 December 2018

Comparative analysis of cell surface antigens expressed by cell lines derived from human germ cell tumours

scientific article published on 01 June 1996

Comparing genome-scale DNA methylation and CNV marks between adult human cultured ITGA6+ testicular cells and seminomas to assess in vitro genomic stability

scientific article published on 16 March 2020

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.

scientific article published in November 2013

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

article

Comprehensive Characterization of Cancer Driver Genes and Mutations

article

Cord blood for tissue regeneration.

scientific article

Correction: c-MET receptor as potential biomarker and target molecule for malignant testicular germ cell tumors

scientific article published on 13 November 2018

Cripto: Expression, epigenetic regulation and potential diagnostic use in testicular germ cell tumors.

scientific article published on 18 November 2015

DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours.

scientific article

DMRforPairs: identifying differentially methylated regions between unique samples using array based methylation profiles

scientific article

DOC1-Dependent Recruitment of NURD Reveals Antagonism with SWI/SNF during Epithelial-Mesenchymal Transition in Oral Cancer Cells.

scientific article published in July 2017

Defining minimum genomic regions of imbalance involved in testicular germ cell tumors of adolescents and adults through genome wide microarray analysis of cDNA clones

scientific article published on 01 December 2004

Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors.

scientific article

Detection of human endogenous retrovirus type K-specific transcripts in testicular parenchyma and testicular germ cell tumors of adolescents and adults: clinical and biological implications.

scientific article published on October 1998

Diagnostic value of OCT3/4 for pre-invasive and invasive testicular germ cell tumours.

scientific article

Differential expression of DNA methyltransferases and demethylases among the various testicular germ cell tumor subtypes

scientific article published on 22 September 2020

Differential methylation EPIC analysis discloses cisplatin-resistance related hypermethylation and tumor-specific heterogeneity within matched primary and metastatic testicular germ cell tumor patient tissue samples

scientific article published on 06 April 2021

Differentiation and development of human female germ cells during prenatal gonadogenesis: an immunohistochemical study.

scientific article published on 25 February 2005

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

scientific article

Disorders of sex development: summaries of long-term outcome studies.

scientific article

Down-regulation of oestrogen receptor-β associates with transcriptional co-regulator PATZ1 delocalization in human testicular seminomas.

scientific article published on 7 March 2011

EGF Receptor and mTORC1 Are Novel Therapeutic Targets in Nonseminomatous Germ Cell Tumors.

scientific article published on 26 February 2018

Establishment and characterization of a new human extragonadal germ cell line, SEM-1, and its comparison with TCam-2 and JKT-1.

scientific article

Etiology and early pathogenesis of malignant testicular germ cell tumors: towards possibilities for preinvasive diagnosis

scientific article

Evaluation of testicular biopsies for carcinoma in situ: immunohistochemistry is mandatory.

scientific article

Expression and interdependencies of pluripotency factors LIN28, OCT3/4, NANOG and SOX2 in human testicular germ cells and tumours of the testis.

scientific article

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

scientific article

Gene expression profiling and gene copy-number changes in malignant mesothelioma cell lines.

scientific article

Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.

scientific article

Genetic aspects of testicular germ cell tumors.

scientific article

Genome wide DNA methylation profiles provide clues to the origin and pathogenesis of germ cell tumors

scientific article published on 10 April 2015

Genome-wide analysis of genetic alterations in testicular primary seminoma using high resolution single nucleotide polymorphism arrays

scientific article published on 02 March 2011

Genomic and expression profiling of human spermatocytic seminomas: pathogenetic implications.

scientific article

Genomic copy number and expression patterns in testicular germ cell tumours.

scientific article published on 4 December 2007

Germ cell lineage differentiation in non-seminomatous germ cell tumours.

scientific article

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

scientific article

Gonadal development and tumor formation at the crossroads of male and female sex determination.

scientific article published on 22 July 2011

Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management

scientific article

Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model

scientific article published on 18 September 2014

Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia).

scientific article

Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.

scientific article

Gonadal tumours and DSD.

scientific article

Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile.

scientific article published on 23 February 2008

Heterogeneous X inactivation in trophoblastic cells of human full-term female placentas

scientific article published in May 1999

Heterogeneous distribution of ITGCNU in an adult testis: consequences for biopsy-based diagnosis

scientific article published on 01 January 2008

Histological Assessment of Gonads in DSD: Relevance for Clinical Management.

scientific article published on 3 November 2017

Histopathological and molecular features of late relapses in non-seminomas.

scientific article published on 18 October 2010

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

scientific article

Human Germ Cell Tumors are Developmental Cancers: Impact of Epigenetics on Pathobiology and Clinic

scientific article published on 10 January 2019

Human germ cell tumours from a developmental perspective

scientific article published on 14 August 2019

Human testicular (non)seminomatous germ cell tumours: the clinical implications of recent pathobiological insights.

scientific article

IGF2/H19 imprinting analysis of human germ cell tumors (GCTs) using the methylation-sensitive single-nucleotide primer extension method reflects the origin of GCTs in different stages of primordial germ cell development.

scientific article

Identification and Validation Model for Informative Liquid Biopsy-Based microRNA Biomarkers: Insights from Germ Cell Tumor In Vitro, In Vivo and Patient-Derived Data

scientific article published on 14 December 2019

Identification of known and novel germ cell cancer-specific (embryonic) miRs in serum by high-throughput profiling.

scientific article published on 7 November 2014

Identification of lineage-uncommitted, long-lived, label-retaining cells in healthy human esophagus and stomach, and in metaplastic esophagus.

scientific article

Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization

scientific article published on August 2005

Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults.

scientific article published on May 1998

Imprints and DPPA3 are bypassed during pluripotency- and differentiation-coupled methylation reprogramming in testicular germ cell tumors.

scientific article published on 20 October 2016

Improved Progression Prediction in Barrett's Esophagus With Low-grade Dysplasia Using Specific Histologic Criteria.

scientific article published on 24 April 2018

Intratubular germ cell neoplasia of the human testis: heterogeneous protein expression and relation to invasive potential.

scientific article

Involvement of E-cadherin and beta-catenin in germ cell tumours and in normal male fetal germ cell development.

scientific article

Involvement of the Fas/FasL pathway in the pathogenesis of germ cell tumours of the adult testis.

scientific article published in April 2002

Lack of Bcl10 mutations in testicular germ cell tumours and derived cell lines.

scientific article published in July 1999

Lessons from human teratomas to guide development of safe stem cell therapies.

scientific article

Loss of SRY-box2 (SOX2) expression and its impact on survival of patients with oesophageal adenocarcinoma.

scientific article published on 10 July 2017

Lymphovascular invasion and presence of embryonal carcinoma as risk factors for occult metastatic disease in clinical stage I nonseminomatous germ cell tumour: a systematic review and meta-analysis

scientific article published on 08 January 2020

MET ectodomain shedding is associated with poor disease-free survival of patients diagnosed with oral squamous cell carcinoma

scientific article published on 19 December 2019

MET expression during prostate cancer progression

scientific article published on 18 April 2016

Maintaining success, reducing treatment burden, focusing on survivorship: highlights from the third European consensus conference on diagnosis and treatment of germ-cell cancer.

scientific article published on 14 November 2012

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

scientific article

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

scientific article published on 18 October 2018

Managing the risk of germ cell tumourigenesis in disorders of sex development patients.

scientific article published on 09 September 2014

Microsatellite instability, mismatch repair deficiency, and BRAF mutation in treatment-resistant germ cell tumors.

scientific article published on 16 March 2009

Molecular markers predict outcome in squamous cell carcinoma of the head and neck after concomitant cisplatin-based chemoradiation.

scientific article published in June 2009

Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes.

scientific article published on 5 July 2005

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

Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.

scientific article

Mutation in the type IB bone morphogenetic protein receptor Alk6b impairs germ-cell differentiation and causes germ-cell tumors in zebrafish

scientific article

NR5A1 gene variants repress the ovarian-specific WNT signalling pathway in 46,XX Disorders of sex development patients

scientific article published on 30 November 2018

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

scientific journal article

National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers

scientific article

New insights into the pathology and molecular biology of human germ cell tumors.

scientific article published on 20 March 2004

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

scientific article published on 22 November 2013

Noninvasive detection of testicular carcinoma in situ in semen using OCT3/4

scientific article published on 01 November 2007

Nuclear lamin expression in normal testis and testicular germ cell tumours of adolescents and adults

scientific article published on 01 June 1997

Olfactomedin 4 (OLFM4) expression is associated with nodal metastases in esophageal adenocarcinoma

scientific article published on 08 July 2019

P53 and SOX2 Protein Expression Predicts Esophageal Adenocarcinoma in Response to Neoadjuvant Chemoradiotherapy.

scientific article published in February 2017

Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.

scientific article published on 3 June 2011

Pathobiological implications of the expression of markers of testicular carcinoma in situ by fetal germ cells.

scientific article

Pathobiology of germ cell tumors - applying the gossip test!

scientific article published on January 2013

Patient with two secondary somatic-type malignancies in a late recurrence of a testicular non-seminoma: illustration of potential and flaw of the cancer stem cell therapy concept.

scientific article

Pattern of p53 protein expression is predictive for survival in chemoradiotherapy-naive esophageal adenocarcinoma.

scientific article published on 24 October 2017

Pediatric germ cell tumors presenting beyond childhood?

scientific article published on 27 November 2014

Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology

scientific article published on 10 October 2019

Prediction of relapse in stage I testicular germ cell tumor patients on surveillance: investigation of biomarkers

scientific article published on 05 August 2020

Promoter methylation of DNA homologous recombination genes is predictive of the responsiveness to PARP inhibitor treatment in testicular germ cell tumors

scientific article published on 02 March 2021

Proteome analysis of the effects of all-trans retinoic acid on human germ cell tumor cell lines

scientific article published on 22 November 2013

Raman spectroscopic analysis identifies testicular microlithiasis as intratubular hydroxyapatite

scientific article published on 01 January 2004

Recent developments in testicular germ cell tumor research.

scientific article

Rectal adenocarcinoma with choriocarcinomatous differentiation: clinical and genetic aspects.

scientific article published in November 2004

Relevance of microRNAs in normal and malignant development, including human testicular germ cell tumours.

scientific article

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.

scientific article

Response to commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'.

scientific article published on 19 January 2017

Restricted 12p amplification and RAS mutation in human germ cell tumors of the adult testis.

scientific article published in October 2000

Review of recent outcome data of disorders of sex development (DSD): emphasis on surgical and sexual outcomes.

scientific article

Role of SOX2 in the etiology of embryonal carcinoma, based on analysis of the NCCIT and NT2 cell lines

scientific article published on 03 January 2014

Role of epigenetics in the etiology of germ cell cancer

scientific article

Role of stem cell proteins and microRNAs in embryogenesis and germ cell cancer.

scientific article published on January 2013

SNPitty: An intuitive web-application for interactive B-allele frequency and copy-number visualization of next-generation sequencing data

scientific article published on 2 January 2018

SOX2 as a novel marker to predict neoplastic progression in Barrett's esophagus.

scientific article published on September 2015

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

scientific article

Seladin-1 and testicular germ cell tumours: new insights into cisplatin responsiveness.

scientific article published on December 2009

Seminoma and embryonal carcinoma footprints identified by analysis of integrated genome-wide epigenetic and expression profiles of germ cell cancer cell lines

scientific article

Serum miRNA Predicts Viable Disease after Chemotherapy in Patients with Testicular Nonseminoma Germ Cell Tumor.

scientific article published on 20 February 2018

Serum microRNA profiles in athyroid patients on and off levothyroxine therapy.

scientific article published on 12 April 2018

Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype

scientific article published on 01 April 2005

Specific detection of OCT3/4 isoform A/B/B1 expression in solid (germ cell) tumours and cell lines: confirmation of OCT3/4 specificity for germ cell tumours.

scientific article

Spermatocytic seminoma: toward further understanding of pathogenesis.

scientific article published in August 2011

Stem cell factor as a novel diagnostic marker for early malignant germ cells.

scientific article

TGF-β1, EGF and FGF4 synergistically induce differentiation of the seminoma cell line TCam-2 into a cell type resembling mixed non-seminoma.

scientific article published on 8 June 2011

TargetClone: A multi-sample approach for reconstructing subclonal evolution of tumors

scientific article published in PLoS ONE

Targeted serum miRNA (TSmiR) test for diagnosis and follow-up of (testicular) germ cell cancer patients: a proof of principle.

scientific article published on 20 August 2013

Testes in infants with Prader-Willi syndrome: human chorionic gonadotropin treatment, surgery and histology.

scientific article published on 7 August 2014

Testicular cancer

scientific article published on 05 October 2018

Testicular cancer: biology and biomarkers

scientific article published on February 2014

Testicular cancer: risk stratification in adolescents with nonseminoma.

scientific article

Testicular germ-cell tumours in a broader perspective.

scientific article

Testicular microlithiasis in boys and young men with congenital or acquired undescended (ascending) testis

scientific article published on 21 February 2010

Testicular microlithiasis is worrisome in a selected patient population

scientific article published on 01 July 2008

Testis Sparing Surgery in Pediatric Testicular Tumors

scientific article published on 06 October 2020

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

article

The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency

scientific journal article

The Human Achaete Scute Homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization

scientific article

The MicroRNA-371 Family as Plasma Biomarkers for Monitoring Undifferentiated and Potentially Malignant Human Pluripotent Stem Cells in Teratoma Assays

scientific article published on 29 November 2018

The Y-encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumors.

scientific article published on 22 May 2007

The biology of germ cell tumors in disorders of sex development

scientific article

The component of the m<sup>6</sup>A writer complex VIRMA is implicated in aggressive tumor phenotype, DNA damage response and cisplatin resistance in germ cell tumors

scientific article published on 25 August 2021

The distribution and behavior of extragonadal primordial germ cells in Bax mutant mice suggest a novel origin for sacrococcygeal germ cell tumors.

scientific article published in January 2008

The pluripotency homeobox gene NANOG is expressed in human germ cell tumors

scientific article

The predictive value of testicular ultrasound abnormalities for carcinoma in situ of the testis in men at risk for testicular cancer.

scientific article published on 15 July 2009

ThePTEN gene in locally progressive prostate cancer is preferentially inactivated by bi-allelic gene deletion

article

Tumor risk in disorders of sex development (DSD).

scientific article

Tumor risk in disorders of sex development.

scientific article

Unique expression patterns of H19 in human testicular cancers of different etiology.

scientific article published on January 1997

Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome

scientific article published on 19 July 2017

Use of immunohistochemical biomarkers as independent predictor of neoplastic progression in Barrett's oesophagus surveillance: A systematic review and meta-analysis.

scientific article published on 23 October 2017

VASA mRNA (DDX4) detection is more specific than immunohistochemistry using poly- or monoclonal antibodies for germ cells in the male urogenital tract.

scientific article published on July 2017

Value of cyclin A immunohistochemistry for cancer risk stratification in Barrett esophagus surveillance: A multicenter case-control study

scientific article

Value of α-methylacyl-CoA racemase immunochemistry for predicting neoplastic progression in Barrett's oesophagus.

scientific article

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

scientific article

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

scientific article

Why human extragonadal germ cell tumours occur in the midline of the body: old concepts, new perspectives

scientific article published on 01 August 2007

Widening the spectrum of Lynch syndrome: first report of testicular seminoma attributable to MSH2 loss

scientific article published on 13 November 2019

Xeroderma Pigmentosum Group A Protein and Chemotherapy Resistance in Human Germ Cell Tumors

scientific article published on October 1, 2003

[Advances in basic research on testicular germ cell tumors : clinical implications].

scientific article published in April 2009

c-KIT protein expression does not discriminate neoplastic from non-neoplastic intratubular germ cells.

scientific article published on 16 February 2012

c-MET receptor as potential biomarker and target molecule for malignant testicular germ cell tumors

scientific article published on 07 August 2018

miMsg: a target enrichment algorithm for predicted miR-mRNA interactions based on relative ranking of matched expression data.

scientific article

miR-371a-3p, miR-373-3p and miR-367-3p as Serum Biomarkers in Metastatic Testicular Germ Cell Cancers Before, During and After Chemotherapy

scientific article published on 08 October 2019

microRNA-371a-3p as informative biomarker for the follow-up of testicular germ cell cancer patients.

scientific article