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List of works by Martin Hergersberg

A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene

scientific article published on 01 January 1995

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

scientific article published in December 2002

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

scientific article published on 01 August 1997

A new stable alpha chain variant: Hb Basel [alpha14(A12)Trp-->Leu (alpha1)]

scientific article published on 01 June 2010

A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.

scientific article published on May 2001

Age at diagnosis and loss of heterozygosity on chromosome 1p and 19q in oligodendroglial tumors.

scientific article

Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.

scientific article

Biological aspects of cytosine methylation in eukaryotic cells ⬇️

scientific article published on December 1, 1991

Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.

scientific article published in August 2003

Cloned transcription factor MTF-1 activates the mouse metallothionein I promoter.

scientific article

Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

scientific article published on 01 February 2000

Compound heterozygosity of Hb Hamilton and de novo mutated HbM Saskatoon

scientific article published on 02 September 2009

Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness

article

Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH

scientific article published on 13 March 2013

Direct genetic diagnosis in Huntington's chorea

scientific article published in December 1993

Expression in mammalian cells of a cloned gene encoding murine DNA methyltransferase.

scientific article published on December 1991

Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14

scientific article

Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families

scientific article published on 01 December 2001

Hereditary hearing loss due to mutations in the connexin-26 gene

scientific article published in July 2000

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

article

Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD)

scientific article published on 01 July 2000

McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.

scientific article published in July 2003

Quantitative monitoring of BCR--ABL transcript--suggestion of a simplified approach considering inaccuracy of measurement and calibration

scientific article published on 01 June 2004

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

scientific article published in February 2001

Schizophrenia and smoking: evidence for a common neurobiological basis?

scientific article published on 01 April 2000

Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly

scientific article published in May 2003

The long form of CDK2 arises via alternative splicing and forms an active protein kinase with cyclins A and E.

scientific article published in July 2001

Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice.

scientific article

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation

scientific article published on 01 April 1995

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15

scientific article (publication date: April 2003)

[Genetic analysis and immunophenotyping in the diagnosis of hematological disease]

scientific article published on 01 February 2004

[Molecular diagnosis of cystic fibrosis]

scientific article published on 01 December 1995

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