J. Herbergs

发表

Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice.

J. Dreesen, C. D. de Die-Smulders, M. Drüsedau, 2008, Molecular human reproduction.

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

J. Herbergs, U. Moog, E. Smeets, 2003, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Nucleotide sequence of the chicken HMGI-C cDNA and expression of the HMGI-C and IGF1 genes in autosomal dwarf chicken embryos.

M. Groenen, J. Herbergs, T. Ayoubi, 1998, Biochimica et biophysica acta.

Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes

C. D. de Die-Smulders, J. Herbergs, J. Nijhuis, 2004, American journal of medical genetics. Part A.

Design of the FemCure study: prospective multicentre study on the transmission of genital and extra-genital Chlamydia trachomatis infections in women receiving routine care

G. Kok, C. Hoebe, S. Morré, 2016, BMC Infectious Diseases.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

H. Smeets, A. Paulussen, A. Haeringen, 2010, European Journal of Human Genetics.

The full spectrum of holoprosencephaly‐associated mutations within the ZIC2 gene in humans predicts loss‐of‐function as the predominant disease mechanism

S. Bale, A. Paulussen, M. Muenke, 2009, Human mutation.

Mosaic telomeric (2;14) association in a child with motor delay.

J. Herbergs, C. Marcelis, J. Engelen, 2000, American journal of medical genetics.

Multicolour fluorescent detection and mapping of AFLP markers in chicken (Gallus domesticus).

M. Groenen, R. Crooijmans, J. Herbergs, 1999, Animal genetics.

Rett syndrome in females with CTS hot spot deletions: A disorder profile

H. Smeets, G. Matthijs, J. Herbergs, 2005, American journal of medical genetics. Part A.

Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings

H. Smeets, G. Matthijs, J. Herbergs, 2003, American journal of medical genetics. Part A.

Generation of a panel of somatic cell hybrids containing fragments of human chromosome 12P by X-ray irradiation and cell fusion.

R. Sinke, J. Herbergs, J. Cassiman, 1992, Genomics.

Chromosome aberrations in adenomas of the colon. Proof of trisomy 7 in tumor cells by combined interphase cytogenetics and immunocytochemistry

J. Arends, J. Herbergs, R. Stockbrügger, 1994, International journal of cancer.

Fluorescent in situ identification of human marker chromosomes using flow sorting and Alu element-mediated PCR.

L. Kearney, A. V. van Kessel, J. Herbergs, 1992, Genomics.

Clonal origin of trisomy for chromosome 7 in the epithelial compartment of colon neoplasia

E. Bongers, J. Arends, J. Herbergs, 1996, Genes, chromosomes & cancer.

Combination of lamin immunocytochemistry and in situ hybridization for the analysis of chromosome copy numbers in tumor cell areas with high nuclear density.

J. Arends, E. Speel, J. Herbergs, 1996, Cytometry.

Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis.

J. Dreesen, H. Smeets, J. Dumoulin, 2000, Molecular human reproduction.

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1

R. Pfundt, J. Veltman, H. Brunner, 2006, Journal of Human Genetics.

The HMGI-C gene is a likely candidate for the autosomal dwarf locus in the chicken.

M. Groenen, J. Masabanda, A. de Groof, 1998, The Journal of heredity.

Design of the FemCure study

G. Kok, C. Hoebe, S. Morré, 2016 .

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy–Walker malformation

J. Herbergs, M. Vreeburg, A. Stegmann, 2008, American journal of medical genetics. Part A.

Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection.

J. Dreesen, C. D. de Die-Smulders, M. Drüsedau, 2004, Molecular human reproduction.

A stochastic model of the processes in PCR based amplification of STR DNA in forensic applications.

J. Herbergs, Jos Weusten, Jos Herbergs, 2012, Forensic science international. Genetics.

Combined immunocytochemistry and fluorescence in situ hybridization for simultaneous tricolor detection of cell cycle, genomic, and phenotypic parameters of tumor cells.

E. Speel, J. Herbergs, F. Ramaekers, 1994, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Destructive basal cell carcinoma in a patient with basal cell nevus syndrome and an interstitial deletion of chromosome 9q22.

J. Herbergs, N. Kelleners-Smeets, K. Mosterd, 2009, Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.].

Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: Detection by MLPA and breakpoint mapping by SNP array analysis

E. Blom, J. Herbergs, S. Stevens, 2009, American journal of medical genetics. Part A.

IN SITU HYBRIDIZATION AND FLOW CYTOMETRIC ANALYSIS OF COLORECTAL TUMOURS SUGGESTS TWO ROUTES OF TUMOURIGENESIS CHARACTERIZED BY GAIN OF CHROMOSOME 7 OR LOSS OF CHROMOSOMES 17 AND 18

J. Arends, J. Herbergs, A. Hopman, 1996, The Journal of pathology.

O-075. Multiplex PCR of polymorphic markers flanking the CFTR gene: a general approach for pre-implantation genetic diagnosis of cystic fibrosis

J. Dreesen, H. Smeets, J. Dumoulin, 1999 .