M. Lombardi

发表

Chromosomal region 11p15 is associated with male factor subfertility.

L. Hoefsloot, J. Kremer, M. Tanck, 2003, Molecular human reproduction.

R. Westendorp, E. Sijbrands, A. Van der Laarse, 1998, Atherosclerosis.

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

J. Drost, R. Kuiper, S. Hopman, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Expression analysis of subtractively enriched libraries (EASEL): a widely applicable approach to the identification of differentially expressed genes.

A. Moorman, J. Ruijter, R. L. Lekanne Deprez, 2003, Journal of biochemical and biophysical methods.

Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics

M. Alders, M. Mannens, P. Henneman, 2022, Frontiers in Genetics.

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

L. Havekes, M. Kotze, L. Gaal, 1997, Human Genetics.

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

M. Trip, J. Kastelein, L. Havekes, 2000, Clinical genetics.

Absence of mutations in the PCI gene in subfertile men.

J. Meijers, A. Schimmel, F. van der Veen, 2004, Molecular human reproduction.

Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.

J. Tijssen, A. Wilde, F. T. ten Cate, 2011, Journal of the American College of Cardiology.

Mutation update for the PORCN gene

R. Hennekam, J. Celli, R. Śmigiel, 2011, Human mutation.

Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

R. Hennekam, R. Śmigiel, D. Patkowski, 2011, American journal of medical genetics. Part A.

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

R. Weksberg, Z. Tümer, P. Lapunzina, 2015, European Journal of Human Genetics.

The IGSF1 deficiency syndrome: characteristics of male and female patients.

R. Hennekam, M. Dattani, R. Hennekam, 2013, The Journal of clinical endocrinology and metabolism.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

T. Eggermann, C. Izzi, A. Selicorni, 2019, Genetics research.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

F. Jehee, E. Sistermans, B. Faas, 2022, American journal of human genetics.

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation

H. Meijers-Heijboer, T. Kuijpers, Y. Smulders, 2014, European Journal of Pediatrics.

Gorlin syndrome - Goltzand genotype in 17 patients with

S. Maas, M. Lombardi, A. J. Essen, 2011 .

UvA-DARE ( Digital Academic Repository ) Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

R. Hennekam, A. Essen, I. Temple, 2009 .

Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis.

G. Westerveld, S. Repping, F. van der Veen, 2005, Fertility and sterility.

Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding.

A. Zwinderman, R. Lilford, F. van der Veen, 2004, Human reproduction update.

Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern.

R. Lilford, G. Westerveld, M. Tanck, 2004, Human reproduction.

Heterogeneous nuclear ribonucleoprotein G-T (HNRNP G-T) mutations in men with impaired spermatogenesis.

G. Westerveld, S. Repping, F. van der Veen, 2004, Molecular human reproduction.

Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia.

G. Westerveld, S. Repping, F. van der Veen, 2005, Molecular human reproduction.

UvA-DARE ( Digital Academic Repository ) Spermatogenic failure . A genetic

L. Hoefsloot, J. Kremer, M. Alders, 2007 .

Yield of Molecular and Clinical Testing for Arrhythmia Syndromes: Report of 15 Years’ Experience

Hanno L. Tan, H. Tan, A. Wilde, 2013, Circulation.

Birth defects registries in the genomics era: challenges and opportunities for developing countries

S. Arabia, G. Patrinos, M. Lombardi, 2014 .

A comprehensive gene mutation screen in men with asthenozoospermia.

G. Westerveld, S. Repping, F. van der Veen, 2011, Fertility and sterility.

Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure.

G. Westerveld, S. Repping, F. van der Veen, 2006, Human reproduction.

cDNA Arrays: The Ups and Downs

C. Remme, M. Lombardi, Maurke J.B. van den Hoff, 2001, Cardiovascular Drugs and Therapy.

Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.

M. Mannens, M. Mannens, E. Redeker, 2006, Genetic testing.

Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia.

R. Westendorp, E. Sijbrands, J. Kastelein, 2000, Atherosclerosis.

WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report

J. P. van der Voorn, J. Rotteveel, M. Finken, 2015, Hormone Research in Paediatrics.

Human Mutation MUTATION UPDATE Mutation Update for the PORCN Gene

R. Hennekam, J. Celli, R. Śmigiel, 2011 .

UvA-DARE ( Digital Academic Repository ) Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

R. Hennekam, A. Essen, I. Temple, 2009 .

Focal dermal hypoplasia without focal dermal hypoplasia

R. Hennekam, M. Lombardi, S. Contreras-Capetillo, 2014, American journal of medical genetics. Part A.

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

K. Grzeschik, E. Colin, H. Dollfus, 2017, American journal of medical genetics. Part A.