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  • 1
    Electronic Resource
    Electronic Resource
    Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 331-338 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A human aniridia candidate (AN) gene on chromosome 11p13 has been cloned and characterized. The AN gene is the second cloned gene of the contiguous genes syndrome WAGR (Wilms' tumor, aniridia, genitourinary malformations, mental retardation) on chromosome 11p13, WT1 being the first gene cloned. Knowledge about the position of the AN and WT1 genes on the map of 11p13 makes the risk assessment for Wilms' tumor development in AN patients possible. In this study, we analyzed familial and sporadic aniridia patients for deletions in 11p13 by cytogenetic analyses, in situ hybridization, and pulsed field gel electrophoresis (PFGE). Cytogenetically visible deletions were found in 3/11 sporadic AN cases and in one AN/WT patient, and submicroscopic deletions were identified in two sporadic AN/WT patients and in 1/9 AN families. The exact extent of the deletions was determined with PFGE and, as a result, we could delineate the risk for Wilms' tumor development. Future analyses of specific deletion endpoints in individual AN cases with the 11p13 deletion should result in a more precise risk assessment for these patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201588
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 491-498 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract 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 from two consecutive mutational steps, designated “premutation” and “full fragile X mutation”. These mutations give rise to expansions of restriction fragments, most probably by amplification of the FMR-1 CGG repeat. Premutations are identified by small expansions that apparently have no effect on either the clinical or the cellular phenotype. Full mutations are reflected by large expansions and hypermethylation of the expanded gene region. All males showing large expansions were affected. Individuals with full mutations also expressed the fragile X, with only one exception. An affected “mosaic” male, showing a predominance of premutated fragments in his leukocytes, was shown to be fragile-X-negative on different occasions. About 50% of heterozygotes with full mutations were reported by clinicians to be mentally retarded. Conversion of the premutation to the full mutation may occur at oogenesis, as previously suggested, or after formation of a zygote at an early transitional stage in development when the CGG repeat behaves as a mitotically unstable element on maternally derived/imprinted X chromosomes carrying a premutation of sufficient repeat length.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00216457
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  • 3
    Electronic Resource
    Electronic Resource
    Zur Populationsgenetik der Phosphohexoseisomerasen (EC: 5.3.1.9) beim Schwein (1970)
    Springer
    Human genetics 〈Berlin〉 9 (1970), S. 110-112 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wurden die Elektrophoresemuster der Phosphohexoseisomerase beim Schwein untersucht. Gewebsspezifische Unterschiede waren nicht nachweisbar. In einer Populationsstichprobe von 200 Schweinen (Lebergewebe) wurden drei verschiedene Phänotypen gefunden; die Häufigkeit für das Allel PHIb beträgt 0.247.
    Notes: Summary The electrophoretic patterns of phosphohexose isomerase has been examined in different organs of pigs. There are no tissue-specific differences. In a population sample of 200 specimen of pig liver three different phenotypes have been found; the frequency for PHIb is 0.247.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00696022
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  • 4
    Electronic Resource
    Electronic Resource
    Case report (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 796-799 
    Details
    ISSN: 1432-1076
    Keywords: Key words Bird-headed dwarfism ; Craniosynostosis ; Microcephalic ; osteodysplastic primordial dwarfism ; Osteodysplastic primordial ; dwarfism ; Seckel syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After fronto-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably. Conclusion MOPD type II may have a wider range of expression than previously delineated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02002910
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  • 5
    Electronic Resource
    Electronic Resource
    Case report (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 796-799 
    Details
    ISSN: 1432-1076
    Keywords: Bird-headed dwarfism ; Craniosynostosis ; Microcephalic osteodysplastic primordial dwarfism ; Osteodysplastic primordial dwarfism ; Seckel syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abstract We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After fronto-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably. Conclusion MOPD type II may have a wider range of expression than previously delineated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02002910
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  • 6
    Electronic Resource
    Electronic Resource
    Maternal uniparental disomy 7 – review and further delineation of the phenotype (2000)
    Springer
    European journal of pediatrics 159 (2000), S. 247-256 
    Details
    ISSN: 1432-1076
    Keywords: Key words Heterodisomy ; Isodisomy ; Maternal uniparental disomy 7 ; Mosaicism ; Silver-Russell syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reported by us, and review the clinical and molecular findings of all 32 cases. We found a phenotype characterized by pre- and postnatal growth retardation, occipitofrontal head circumference in the lower normal range, a triangular face, and retarded bone maturation. Findings of the facial gestalt included a high and broad forehead and a pointed chin. A broad mouth with down-turned corners, prominent ears, café-au-lait spots, hemihypotrophy, or clinodactyly were rarely present. Psychomotor development was delayed in 6 cases. The clinical findings strikingly resemble the phenotype of the heterogeneous Silver-Russell syndrome (SRS). Other anomalies were less frequently found than in SRS. Molecular investigations revealed 11 cases with isodisomy and 17 cases with heterodisomy. In 4 cases this information was not available. From the allelic distribution of the microsatellites investigated, 9 cases might be the consequence of an error at maternal meiosis I, and 6 cases might be due to non-disjunction at maternal meiosis II. Three of the 17 heterodisomic cases had trisomy 7 in chorionic villi, in the remaining cases no prenatal diagnosis through chorionic villus sampling was reported. Conclusion Maternal UPD 7 should be investigated in children with pre- and postnatal growth retardation and a facial gestalt characterized by a high and broad forehead and a pointed chin, as well as in confined placental mosaicism for trisomy 7.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050064
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  • 7
    Electronic Resource
    Electronic Resource
    Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 342-344 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Galactosyl ceramide β-galactosidase activity was determined in chorionic villi (CV) samples obtained between the 9th and 11th weeks of gestation from 5 women with pregnancies at risk for Krabbe's disease (globoid-cell leukodystrophy, KD). These enzyme activities were compared with those in controls, as well as with those in cultured amniotic fluid cells (AFC) from one of the five at-risk pregnancies and from 29 KD-risk pregnancies studied previously. The results of these CV enzyme analyses were such that one case of fetal KD was clearly diagnosable, one fetal genotype heterozygous for KD was presumed, and three normal fetal genotypes were suggested. The use of both uncultured and cultered CV can be recommended for prenatal KD testing, but AFC may continue to play an important role, too. Of the 58 prenatal KD tests we have evaluated since 1974, a positive diagnosis of Krabbe's disease was made (and confirmed after termination of pregnancy when feasible) in 23 which is significantly more than 25% of 58.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291423
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  • 8
    Electronic Resource
    Electronic Resource
    Zur transspezifischen Variabilität der 6-Phosphogluconatdehydrogenase (E.C.: 1.1.1.44) der Primaten (1971)
    Springer
    Human genetics 〈Berlin〉 11 (1971), S. 323-327 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die 6-Phosphogluconatdehydrogenasen in Erythrocyten der Primaten lassen eine transspezifische Variabilität erkennen, die durch Ladungsunterschiede bedingt wird. Mit der Stärkegelelektrophorese können sechs verschiedene Enzymvarianten differenziert werden. Neben der 6-PGD A, die bei allen Menschenpopulationen eine sehr hohe Frequenz besitzt, und der 6-PGD B, der beim Menschen sehr selten vorkommenden Canning Variante, konnte bei subhumanen Primaten eine schneller wandernde Variante 6-PGD F und eine langsamer wandernde Variante 6-PGD C nachgewiesen werden. Bei den Simiae der Neuen Welt kommen zwei weitere Varianten vor: 6-PGD B′ mit einer elektrophoretischen Position zwischen 6-PGD B und 6-PGD A und 6-PGD A′ mit einer solchen zwischen 6-PGD A und 6-PGD F. Die Verteilung der verschiedenen 6-Phosphogluconatdehydrogenase-Phänotypen von 428 subhumanen Primaten wurde ermittelt.
    Notes: Summary The 6-Phosphogluconate Dehydrogenase in the erythrocytes of Primates show a transspecific variability, caused by differences in charge. Six kinds of genetically determined enzymes are distinguishable by means of starchgel-electrophoresis. Besides the 6-PGD A, the usual phenotype most frequent in human populations, and the 6-PGD B, the Canning variant very rare in human populations, a faster anodal migrating variant 6-PGD F and a slow migrating variant 6-PGD C were found to be present in subhuman Primates. In addition in some New World Monkeys two further variants could be demonstrated: 6-PGD B′ with an electrophoretic mobility intermediate between 6-PGD B and 6-PGD A and 6-PGD A′ with an electrophoretic mobility intermediate between 6-PGD A and 6-PGD F. The distribution of the various 6-PGD phenotypes in 428 subhuman Primates was estimated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278660
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  • 9
    Electronic Resource
    Electronic Resource
    Genetics and linkage analysis of adenosine deaminase (1971)
    Springer
    Human genetics 〈Berlin〉 14 (1971), S. 69-71 
    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/BF00273036
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  • 10
    Electronic Resource
    Electronic Resource
    Genetic and linkage analysis on 6-PGD (1971)
    Springer
    Human genetics 〈Berlin〉 14 (1971), S. 73-75 
    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/BF00273038
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