A. Nygren

发表

In situ genotyping individual DNA molecules by target-primed rolling-circle amplification of padlock probes

U. Landegren, A. Raap, M. Nilsson, 2004, Nature Methods.

High‐resolution mapping of the 8p23.1 beta‐defensin cluster reveals strictly concordant copy number variation of all genes

K. Huse, S. Schreiber, M. Platzer, 2008, Human mutation.

Colorimetric quantification of mRNA expression in rare tumour cells amplified by multiple ligation-dependent probe amplification

C. O’Sullivan, O. Henry, T. Mairal, 2010, Analytical and bioanalytical chemistry.

A multiplexed transcription activator-like effector system for detecting specific DNA sequences.

M. Arcellana‐Panlilio, Christopher M. Wintersinger, Himika Dastidar, 2014, ACS synthetic biology.

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

N. Rahman, R. Scott, J. Birch, 2007, Journal of Medical Genetics.

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.

J. Schouten, B. Janssen, J. Zschocke, 2007, Molecular and cellular probes.

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

M. Zatz, A. Pessoa, C. Beetz, 2007, European Journal of Human Genetics.

A/T mutagenesis in hypermutated immunoglobulin genes strongly depends on PCNAK164 modification

P. V. D. van den Berk, H. Jacobs, A. Nygren, 2007, The Journal of experimental medicine.

Epigenetic events of disease progression in head and neck squamous cell carcinoma.

J. Schouten, M. Benninger, A. Nygren, 2006, Archives of otolaryngology--head & neck surgery.

Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment

J. Schouten, H. E. El Shakankiry, A. Nygren, 2007, Cytogenetic and Genome Research.

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification

A. Lang, P. Pramstaller, P. Vieregge, 2007, Movement disorders : official journal of the Movement Disorder Society.

Screening for large mutations of the NF2 gene

M. Tatagiba, L. Kluwe, V. Mautner, 2005, Genes, chromosomes & cancer.

Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.

F. Alkuraya, Z. Alsum, A. Nygren, 2010, Genetic testing and molecular biomarkers.

Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

J. Schouten, Q. Waisfisz, N. Ameziane, 2005, Nucleic acids research.

Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA

J. Schouten, H. Jacobs, A. Nygren, 2005, Nucleic acids research.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Bernhard Steiner, K. Spanaus, A. Patrignani, 2010, European Journal of Human Genetics.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

M. Pericak-Vance, H. Smeets, S. Züchner, 2008, Brain : a journal of neurology.

Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.

H. Grönberg, G. Kanter-Smoler, E. Holmberg, 2004, Genetic testing.

Concurrent methylation of promoters from tumor associated genes predicts outcome in acute myeloid leukemia

Quinten Waisfisz, Johannes Berkhof, Abdellatif Errami, 2008, Leukemia & lymphoma.

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

F. Güttler, J. Zschocke, L. Tyfield, 2007, Human mutation.

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

O. Witte, R. Schüle, L. Schöls, 2006, Neurology.

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

M. Pericak-Vance, A. Ashley-Koch, M. Hutchinson, 2007, Human mutation.

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

A. Durr, R. Schüle, L. Schöls, 2018, Brain : a journal of neurology.

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

E. Reid, C. Beetz, T. Deufel, 2007, Neurogenetics.

Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles.

A. Nygren, R. Carvalho, Sylvia I. Lens, 2008, The Journal of molecular diagnostics : JMD.

Sequential gene promoter methylation during HPV-induced cervical carcinogenesis

J. Schouten, C. Meijer, P. Snijders, 2007, British Journal of Cancer.

Fluorescent resonance energy transfer (FRET) based detection of a multiplex ligation-dependent probe amplification assay (MLPA) product.

C. O’Sullivan, A. Nygren, V. Ozalp, 2008, Molecular bioSystems.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

M. Pericak-Vance, H. Smeets, S. Züchner, 2008, Brain : a journal of neurology.

Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

J. Schouten, L. Larsen, P. Andersen, 2008, Analytical chemistry.

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

M. Rosenfeld, M. Knowles, M. Zariwala, 2014, The Journal of pediatrics.