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  • 1
    Electronic Resource
    Electronic Resource
    Patterns of deletions of the dystrophin gene in different European populations (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 342-346 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The distribution of deletion breakpoints in the dystrophin gene was studied in a series of subjects belonging to different European populations. The data, obtained from the literature or directly from the present study, refer to population samples from France, Finland, Germany, Italy, Netherland, Switzerland, and U.K. (England, Scotland, Wales). In total, 1516 breakpoints were assigned to different introns, 359 in the region encompassing the first 40 exons and 1157 (76%) in the distal part of the gene. Intron 7 appears to be equally involved as the starting or ending breakpoint, whereas intron 44 is involved mostly as a starting breakpoint. Breakpoint distribution by intron seems to differ in different populations, reaching statistical significance in the case of introns 44, 49, and 53. This finding suggests that some intronic sequences might contain preferential breakpoints that might vary in different populations, possibly as a consequence of genetic drift.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00217354
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 260-264 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Deficiency in hepatic tyrosine aminotransferase (TAT) causes tyrosinemia type II, an autosomal recessively inherited disorder. Using a TAT cosmid clone, we have identified an MspI restriction fragment length polymorphism (RFLP) 5′ to the TAT gene, with allele frequencies of 0.63 and 0.37. Analysis of the cloned maternal and paternal TAT alleles from patient with tyrosinemia type II led to the identification of a HaeIII RFLP at the 3′ end of the TAT gene, with allele frequencies of 0.94 and 0.06. The two RFLPs are 27 kb apart and in no allelic association. From haplotype frequencies, a polymorphism information content (PIC) value of 0.44 was obtained. The two RFLPs have allowed the unambiguous identification of the mutant TAT alleles in the patient's pedigree by haplotype analysis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00366248
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  • 3
    Electronic Resource
    Electronic Resource
    No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 317-318 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two recent articles have reported the linkage of a gene for recessive spinal muscular atrophy (SMA) on the chromosome region 5q11.2–13.3. Our data show no linkage of the dominantly inherited forms of SMA to this chromosome region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202419
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  • 4
    Electronic Resource
    Electronic Resource
    Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17 (1991)
    Springer
    Human genetics 〈Berlin〉 88 (1991), S. 71-74 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the α-subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (z=20.61, Θ=0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00204932
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  • 5
    Electronic Resource
    Electronic Resource
    Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 249-257 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne (DMD) and Becker muscular dystrophy (BMD). However, there are problems in resolving these issues partly because not all mutations can as yet be directly detected, and additionally because genetic ratios are very sensitive to ascertainment bias. In the present study, therefore, analysis was restricted to currently detectable mutations (deletions and duplications) in particular types of families which tend to be rare. In order to obtain sufficient data we pooled results from 25 European centers. In mothers of affected patients who were the first in their family with a dystrophin gene deletion or duplication, the ratio between the paternal and the maternal origin of this new mutation was 32:49 (binomial test P = 0.075) for DMD. In five BMD families the ratio between paternal and maternal origin of new mutations was 3∶2. Recurrence risk because of maternal germline mosaicism was studied in sisters or subsequent sibs of isolated cases with an apparently new detectable mutation. In 12 out of 59 (0.20; 95% CI 0.10–0.31) transmissions of the risk haplotype the DMD mutation was transmitted as well. No recurrences were found in nine BMD families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197255
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  • 6
    Electronic Resource
    Electronic Resource
    Streifen- und wirbelförmige nävoide Hypermelanose Fallbeschreibung und Literaturübersicht (1998)
    Springer
    Der Hautarzt 49 (1998), S. 408-412 
    Details
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Streifen- und wirbelförmige nävoide Hypermelanose ; Lineare pigmentierte Dermatosen ; Blaschko-Linien ; Mosaik ; Key words Linear and whorled nevoid hypermelanosis ; Linear pigmented dermatoses ; Lines of Blaschko ; Mosaicism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A 7 year old boy presented with linear and whorled nevoid hypermelanosis (LWNH). This entity, delineated in 1988, is characterized by streaked or whorled, frequently reticulate hyperpigmented lesions following the lines of Blaschko without preceding inflammation and without atrophy. The age of onset is usually within the first 2 years of life. Histologically, there is a mild basal cell hyperpigmentation with prominent melanocytes. In contrast to earlier reports, we observed some melanophages in the upper dermis. Associated abnormalities have been reported in a few patients, but were absent in our case. We present the clinical features, diagnostic criteria and differential diagnosis of this rare entity. Apparently, our patient represents the first case of LWNH in the German literature.
    Notes: Zusammenfassung Wir diagnostizierten bei einem 7jährigen Patienten eine streifen- und wirbelförmige nävoide Hypermelanose (SWNH). Die wesentlichen Kriterien dieser 1988 beschriebenen Entität sind lineare, oft retikuläre Hyperpigmentierungen entlang der Blaschko-Linien ohne entzündliches Vorstadium und ohne Atrophie der Läsionen. Die Erkrankung manifestiert sich meist innerhalb der ersten 2 Lebensjahre. Histologisch ist eine verstärkte Pigmentierung des Stratum basale mit prominenten Melanozyten zu finden. Im Gegensatz zu früheren Beobachtungen fanden sich bei unserem Patienten einige Melanophagen im oberen Korium im Sinne einer Pigmentinkontinenz. In wenigen Fällen wurden assoziierte Mißbildungen mitgeteilt, fanden sich im vorgestellten Fall jedoch nicht. Anhand dieses Fallberichtes möchten wir das klinische Bild, die diagnostischen Kriterien und die Differentialdiagnosen dieser seltenen Entität darstellen. Soweit uns bekannt, stellt unser Patient den ersten Fall einer SWNH in der deutschsprachigen Literatur dar.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001050050764
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  • 7
    Electronic Resource
    Electronic Resource
    Variable composition of X chromosomal mosaics: Due to asynchronous cell division during early embryogenesis? (1977)
    Springer
    Human genetics 〈Berlin〉 39 (1977), S. 213-215 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00287013
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  • 8
    Electronic Resource
    Electronic Resource
    Qualitative and quantitative evaluation of supravalvar aortic stenosis by cross-sectional echocardiography (1982)
    Springer
    Pediatric cardiology 3 (1982), S. 13-17 
    Details
    ISSN: 1432-1971
    Keywords: Supravalvar aortic stenosis ; Cross-sectional sector echocardiography ; Qualitative and quantitative investigations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Cross-sectional and concurrent M-mode echocardiograms of the left ventricular outflow tract and the ascending aorta were performed in 80 patients with supravalvar aortic stenosis (SVAS) selected from a total of 178 patients in whom the diagnosis had been established earlier by cardiac catheterization and angiocardiography. Visualization of the area of obstruction was possible in 77 patients using the cross-sectional system. In 34 cases recatheterization and angiocardiography of the left heart were carried out. To quantitate the severity of obstruction we used the pressure difference across the stenosis and the ratio of the cross-sectional areas at the level of the aortic annulus and of maximal supravalve stenosis. These cross-sectional areas were estimated from values for aortic diameter derived from scans in the long axis of the aorta, assuming the cross-sections to be circular. There was a good correlation between the ratios calculated from the echocardiogram and those calculated from the angiocardiogram (r=0.894,n=34, 0.747〈p〉0.938). There was also a good correlation between the ratio of the surface areas calculated from the echocardiogram and the corresponding measured pressure differences (r=0.932,n=.36, 0.878〈p〉0.973). This study shows that cross-sectional echocardiography may be useful for estimating the severity of obstruction in SVAS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02082324
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