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Presence of an IDS-Related Locus (IDS2) in Xq28 Complicates the Mutational Analysis of Hunter Syndrome
A deficiency of the enzyme iduronate-2-sulfatase (IDS) is the cause of Hunter syndrome (mucopolysaccharidosis type II). Here, we report a study of...
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Connective Tissue: More Than Just a Matrix for Cells
The general function of connective and supporting tissues consists, as the term implies, in the association of cells, the connection of the different...
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A human parthenogenetic chimaera
In mice, parthenogenetic embryos die at the early postimplantation stage as a result of developmental requirements for paternally imprinted genes,...
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X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes
The X-chromosome activity states of 11 manifesting carriers of dystrophinopathies, all with normal karyotypes, were estimated by restriction fragment...
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Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8
We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a...
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Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28
We are currently characterizing mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis type II)....
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Xq–Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype
The critical importance of dosage compensation is underscored by a novel human syndrome (“XY Xq syndrome”) in which we have detected partial X disomy,...
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The genetic contribution to the phenotype
The phenotype is the result of ontogenetic development. This holds true also at the molecular level, because molecular biological processes take...
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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
MASA syndrome is a recessive X–linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases,...
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X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene
X–linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously...
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Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness
In 80% of XX males, maleness is due to the presence of Y–specific DNA including the SRY gene and results from an abnormal terminal X–Y interchange...
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Nonisotopic in Situ Hybridization
The detection of DNA or RNA sequences in cells in interphase or metaphase can readily be achieved by in situ hybridization procedures based on the...
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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
Mutations in the factor VIII gene have been discovered for barely more than half of the examined cases of severe haemophilia A. To account for the...
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Endogenous Human Retroviruses
The genomes of all eukaryotes contain multiple copies of DNA sequences that are related to sequences found in infectious retroviruses (for review,...
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Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq
A number of Xp22;Yq11 translocations involving the transposition of Yq material to the distal short arm of the X chromosome have been described. The...
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Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
We have constructed a 3.1 megabase (Mb) physical map of chromosome 17p11.2–p12, which contains a submicroscopic duplication in patients with...