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  • 1
    Electronic Resource
    Electronic Resource
    Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20 (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 254-256 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The cystic fibrosis (CF) gene has been cloned and a major mutation identified (ΔF508). This 3-bp deletion has been found in approximately 70% of CF chromosomes. We have used the strategy of denaturing gradient gel electrophoresis followed by direct sequencing of the polymerase chain reaction products, in order to detect other mutations in exons 10, 11 and 20 of the CF transmembrane conductance regulator gene. A new mutation, F1286-S, was found in exon 20. It involves a nucleotide change of T→C at nucleotide 3989 and changes a phenylalanine into serine at position 1286 of the protein.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00218266
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  • 2
    Electronic Resource
    Electronic Resource
    Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 542-548 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an 18-month period we screened 32,300 neonates born in the western part of Britanny. The first tier, involving IRT screening at 3 days of age, utilizes a low elevation of the trypsinogen level (600 ng/ml), which is highly sensitive. The second tier, which corresponds to the exhaustive screening for mutations in three exons of the gene, is highly specific for this population (Britanny). The false positive rate is very low, and no false negatives have been reported to date. This strategy has allowed the identification of five novel alleles (V322A, V317A, 1806 del A, R553G, G544S). Moreover the test can be adapted to other countries in which the distribution of mutations is established.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197409
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 656-659 
    Details
    ISSN: 1432-1076
    Keywords: Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957147
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  • 4
    Electronic Resource
    Electronic Resource
    The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 438-445 
    Details
    ISSN: 1432-1076
    Keywords: Key words     Kabuki syndrome ; Niikawa-Kuroki syndrome ; Long palpebral fissures ; Fetal fingertip pads ; Kabuki make-up syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1:32 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation "Kabuki" syndrome seems to be more appropriate than "Kabuki make-up" syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01983409
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 438-445 
    Details
    ISSN: 1432-1076
    Keywords: Kabuki syndrome Niikawa-Kuroki syndrome ; Long palpebral fissures ; Fetal fingertip pads ; Kabuki make-up syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1∶32 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation “Kabuki” syndrome seems to be more appropriate than “Kabuki make-up” syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01983409
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    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 656-659 
    Details
    ISSN: 1432-1076
    Keywords: Key words Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957147
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Magnetic resonance imaging in Pelizaeus-Merzbacher disease (1987)
    Springer
    Neuroradiology 29 (1987), S. 403-405 
    Details
    ISSN: 1432-1920
    Keywords: Magnetic resonance imaging ; Pelizaeus ; Merzbacher disease ; Cerebral sclerosis diffuse
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Pelizaeus-Merzbacher's disease is a progressive encephalopathy with demyelination of the cerebral white matter. The diagnosis can not be made on clinical or biological grounds: pathological investigation is necessary to confirm tigroid demyelination. CT scanning failed to visualize this type of anomaly but detection is now possible with the advent of magnetic resonance imaging (MRI). The authors studied the case of a boy who, at the age of 8 presented with symptoms characteristic of the disease: rotatory nystagmus, progressive encephalopathy, and inherited X-linked recessive traits. Magnetic resonance imaging revealed a high signal in the supra-tentorial white matter and the usual contrast was inverted. The authors believe that MRI can make an important contribution to the diagnosis of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00348925
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