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Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.
A new patient with the rare ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) is reported. The six patients previously reported in the literature areExpand
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
Novel antibodies against human myotubularin are developed and shown that they are able to detect the endogenous protein by direct Western blot from muscle samples and from cultured cells and a novel deep intronic mutation consisting of a single nucleotide change that induces exonisation of a conserved intronic sequence is detected. Expand
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b
Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20 patients. MPS IIID is caused by a deficiencyExpand
Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient
This report reports a patient with WAGR syndrome and a reciprocal translocation between chromosomes 5 and 11 t(5;11)(q11;p13), which suggests that syndromes associated with apparently balanced translocations may be due to undetectable loss of material at the breakpoint(s) rather than to breakage in the gene itself. Expand
Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.
Epidemiological studies have suggested that non-specific X-linked mental retardation (XLMR) might be at least as frequent as the fragile X syndrome. The identification of all mutations causing XLMRExpand
Association between altered placental human chorionic gonadotrophin (hCG) production and the occurrence of cryptorchidism: a retrospective study
This study showed a link between low maternal serum hCG levels and cryptorchidism in boys from uncomplicated pregnancy, while normal AFP levels indicated a normal fetoplacental unit. Expand
Very low alpha‐fetoprotein in Down syndrome maternal serum screening
To establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP.
Molecular analysis of 53 fragile X families with the probe StB12.3.
Comparison of the molecular data with the previous linkage data from 38 families indicates the effectiveness of direct DNA analysis and Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Expand
Evidence for the presence of β-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique
A technique involving successively electrophoresis of denatured proteins, transfer (blotting) onto nitrocellulose, and labelling by appropriate antibodies raised against the dissociated forms of hexosaminidases A and B allows the detection of α and β subunits in crude extracts of normal tissues. Expand
Reactivating factors of human alpha-mannosidase mutant.
The mutant inactivation by dialysis is reversible in different conditions and the nature of mannosidosis reactivating factors is investigated, suggesting the reactivating factor includes both peptides and ions. Expand