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  • 1
    Electronic Resource
    Electronic Resource
    PCR detection of a BclI RFLP in the G6PD gene of Caucasians (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 579-579 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have calculated the frequencies of two alleles of the glucose-6-phosphate dehydrogenase gene in a randomly selected group of Caucasians. Allele 1 has a frequency of 82%, whereas that of allele 2 is 18%.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219190
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  • 2
    Electronic Resource
    Electronic Resource
    BglII RFLP in DXS498 between the pigment gene repeat unit, RCP and GCP (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 322-322 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The red (RCP) and green (GCP) color pigment genes are located in Xq28, a chromosomal region implicated in many genetic disorders. The restriction fragment length polymorphism (RFLP) we describe here will be useful for linkage analysis in these disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220092
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  • 3
    Electronic Resource
    Electronic Resource
    Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 291-293 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Deficiency of carnitine palmitoyltransferase type II (CPT II) is a clinically heterogeneous autosomal recessive disorder of lipid metabolism. The most common mutation in the CPT II gene is the S113L mutation, which substitutes leucine for serine at amino acid position 113. We studied an inbred family with three affected cousins with CPT II deficiency and found the S113L mutation to be present in a homozygous state in all three patients. Pedigree analysis traced the S113L mutation back to one common ancestor. Although the patients in this family have an identical genotype at the CPT II locus, their clinical picture ranges from asymptomatic to lethal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185756
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  • 4
    Electronic Resource
    Electronic Resource
    Angelman syndrome in an inbred family (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 294-298 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Angelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram. The majority of AS patients (≈ 65%) have a maternal deficiency within chromosomal region 15q11–q13, caused by maternal deletion or paternal uniparental disomy (UPD). Approximately 35% of AS patients exhibit neither detectable deletion nor UPD, but a subset of these patients have abnormal methylation at several loci in the 15q11–q13 interval. We describe here three patients with Angelman syndrome belonging to an extended inbred family. High resolution chromosome analysis combined with DNA analysis using 14 marker loci from the 15q11–q13 region failed to detect a deletion in any of the three patients. Paternal UPD of chromosome 15 was detected in one case, while the other two patients have abnormal methylation at D15S9, D15S63, and SNRPN. Although the three patients are distantly related, the chromosome 15q11–q13 haplotypes are different, suggesting that independent mutations gave rise to AS in this family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185757
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  • 5
    Electronic Resource
    Electronic Resource
    An EcoRI RFLP in the 5′ region of the human NF1 gene (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 631-631 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Von Recklinghausen neurofibromatosis or type l neurofibromatosis (NF1), is one of the most common autosomal dominant disorders. NF1 is characterized by neurofibromas, café-au-lait spots and Lisch nodules of the iris. The NF1 gene is located in 17q11.2. The restriction fragment length polymorphism reported here will be useful in linkage analysis in NF1 families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00420953
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  • 6
    Electronic Resource
    Electronic Resource
    The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 268-271 
    Details
    ISSN: 1432-1076
    Keywords: Liver glycogenosis ; Phosphorylase kinase ; Phosphorylase ; Longitudinal study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency. In their youth, patients displayed hepatomegaly (92%), growth retardation (68%), delayed motor development (52%), hypercholesterolaemia (76%), hypertriglyceridaemia (70%), elevation of glutamate pyruvate transaminase (56%) and fasting hyperketosis (44%). With age, these clinical and biochemical abnormalities gradually disappeared and most adult patients were asymptomatic.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02106291
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  • 7
    Electronic Resource
    Electronic Resource
    On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 277-286 
    Details
    ISSN: 1432-0533
    Keywords: Key words Autosomal dominant disease ; Cone dystrophy ; Cerebellar atrophy ; Multiple system atrophy ; Linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00310370
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  • 8
    Electronic Resource
    Electronic Resource
    Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 54-56 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Molecular diagnosis of fragile X syndrome is usually performed using Southern blot analysis of DNA digested with EcoRI. In the course of diagnostic studies, we observed that a specific EcoRI restriction site in the fragile X gene (FMR1) is sometimes refractory to digestion, generating additional fragments on a Southern blot suggestive of a full mutation in FMR1. This may lead to a false-positive diagnosis of fragile X syndrome. Such additional bands are avoided by the use of HindIII instead of EcoRI. Therefore, we recommend the use of HindIII for the molecular diagnosis of fragile X syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050653
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  • 9
    Electronic Resource
    Electronic Resource
    In vitro expression of α-l-fucosidase activity polymorphism observed in plasma (1983)
    Springer
    Human genetics 〈Berlin〉 64 (1983), S. 235-239 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Several quantitative and qualitative characteristics of α-l-fucosidase were studied in cultured skin fibroblasts derived from variant and non-variant individuals. In comparison with non-variant cultures with similar growth characteristics, the intracellular level of α-l-fucosidase was specifically reduced by at least 50% at all stages of the culture cycle. The amount of enzyme released into the growth medium was also decreased, but the ratio of the extracellular enzyme to the total enzyme activity produced, was not significantly different from that in non-variant cultures. ph-dependence, apparent Km value and temperature sensitivity of the variant α-l-fucosidase were identical to that of the enzyme. in non-variant cells. Specific differences between the variant and non-variant enzyme were consistently observed upon enzyme inactivation at acid pH and in thermostabilisation studies with NaCl. The DEAE elution profiles and pH-dependent association patterns obtained by ultracentrifugation were also different for both types of intracellular α-l-fucosidase. It is concluded that the quantitative as well as the qualitative differences of α-l-fucosidase characteristics found in variant fibroblasts are the in vitro expression of the variant genotype, already phenotypically observed in human plasma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279400
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  • 10
    Electronic Resource
    Electronic Resource
    On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 277-286 
    Details
    ISSN: 1432-0533
    Keywords: Autosomal dominant disease ; Cone dystrophy ; Cerebellar atrophy ; Multiple system atrophy ; Linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00310370
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    Paper (German National Licenses)
    Fulltext
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