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Article
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
Molecular genetic analysis of the transmission of mutations in 73 families with fragile X (one of the largest samples evaluated so far) has confirmed previous hypotheses that the fragile X syndrome results fro...
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Article
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita
We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time...
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Chapter and Conference Paper
Ergebnisse der transzervikalen Chorionzottenbiopsie
Von August 1987 bis Juni 1990 fanden an der Universitäts-Frauenklinik Tübingen 220 transzervikale Chorionzottenbiopsien statt. Die Indikationen hierzu waren: Erhöhtes mütterliches Alter (77%), psychische Gründ...
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Article
Satellited Y chromosomes: Structure, origin, and clinical significance
Three cases of inherited satellited Y chromosomes (Yqs) were analysed using several cytogenetic techniques. The cytogenetic data of the 14 cases of Yqs chromosomes described to date were reviewed. All Yqs chro...
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Article
In vivo induction of neoplastic growth in nude mouse connective tissue adjacent to xenografted human tumors
Induction of neoplastic growth of murine stroma cells within the human tumor xenograft was observed after serial passage of CEA and β2-microglobulin producing human colonic SLu tumor xenografts in nu/nu BALB/c mi...
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Article
Data on linkage relations between GLO and 21-hydroxylase
Linkage between GLO and 21-hydroxylase was investigated in 11 families with 24 children. Positive lod score values with a maximum of +1.618 at θ=0.05 indicate close linkage between these marker loci.
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Article
Cytogenetische Untersuchungen an Trichloräthylen-Arbeitern
On the basis of lymphocyte cultures, chromosome studies were carried out on 28 degreasers under different trichloroethylene load. Nine of these cases showed pathological rates of hypodiploid cells, but otherwi...