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The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A
Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for peripheral myelin protein pmp–22/gas–3 inExpand
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Array comparative genomic hybridization with cyanin cis-platinum-labeled DNAs.
Fluorescent cis-platinum compounds that react with the N7 atom of guanine are useful for labeling nucleic acids influorescence hybridization applications. Here we report that cyanin (CyN)Expand
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  • Open Access
Nuclear organisation of sperm remains remarkably unaffected in the presence of defective spermatogenesis
Organisation of chromosome territories in interphase nuclei has been studied in many systems and positional alterations have been associated with disease phenotypes (e.g. laminopathies, cancer) inExpand
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  • Open Access
Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation
Fluorescence in situ hybridisation (FISH) was first applied on in vitro fertilisation (IVF) embryos for the preimplantation genetic diagnosis of sex, then chromosome translocations and later forExpand
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Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library.
A yeast artificial chromosome (YAC) library has been constructed from a somatic cell hybrid containing a t(1p;19q) chromosome and chromosome 17. After amplification, part of this library was analyzedExpand
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An Xp22.1–p22.2 YAC Contig Encompassing the Disease Loci for RS, KFSD, CLS, HYP and RP15: Refined Localization of RS
To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome (CLS), X-linked hypophosphatemic ricketsExpand
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Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.
Rieger syndrome (RGS) is an autosomal dominant disorder of morphogenesis affecting mainly the formation of the anterior eye chamber and of the teeth. RGS has been localized to human chromosome 4q25Expand
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A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region.
A contiguous set of 43 overlapping yeast artificial chromosome (YAC) clones has been developed for the Charcot-Marie-Tooth disease type 1A (CMT1A) duplication region of chromosome 17p11.2. The contigExpand
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Physical map and localization of the human casein gene locus
Caseins are present in milk of all mammals; their primary function is to provide the suckling infant with essential amino acids, calcium, and phosphate. They are encoded by single-copy genes, membersExpand
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