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  • 1
    Electronic Resource
    Electronic Resource
    Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 287-290 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have investigated one member of a family with dominant osteogenesis imperfecta type IV through three generations. In protein-chemical studies of cultured fibroblasts derived from the proband, collagen I was overmodified, with normal processing of procollagen I, normal thermal stability, and a cyanogen bromide peptide map that suggested a C-terminal location of the structural abnormality in the collagen triple helix. Sequencing of the gene encoding the α2(I) chain of collagen I (COL1A2) indicated a nine base-pair deletion of nucleotides 3418–3426. When a polymerase chain reaction product containing the nucleotides in question was electrophoresed in a 12% polyacrylamide gel, two bands with a difference in size of nine base pairs could be shown. Sequencing of the lower molecular weight band confirmed the deletion of the nine base pairs involving codons 1003–1006 of COL1A2. The deletion introduced a SfiI restriction site that was used for confirmation of the deletion in genomic DNA from the proband. The deletion resulted in the removal of three amino acids (Gly-Pro-Pro), but this did not disrupt the Gly-X-Y sequence of the collagen triple helix, as is often the case in the more common glycine substitutions. We discuss the ways in which this deletion could result in osteogenesis imperfecta.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185755
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Optic gliomas in children with neurofibromatosis type 1 (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 835-838 
    Details
    ISSN: 1432-1076
    Keywords: Neurofibromatosis type 1 ; Optic glioma ; Natural history ; Visual evoked potential
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Over a 24-year period, optic gliomas were found in 29 children, 16 of whom had neurofibromatosis type 1 (NF-1). These 16 children comprised 21% of all children referred for management of NF-1 and its complications. The finding of optic glioma led to the diagnosis of NF-1 in 4 children. The mean age at diagnosis of optic glioma in NF-1 children was 6.4 years, and the average estimated duration of visual symptoms prior to diagnosis was 2.1 years. Most optic gliomas in NF-1 children were ascertained because of a visual complaint (69%), and an even greater number of children (88%) had an abnormal ophthalmological examination. The optic chiasm was involved in 75% of the patients. All of the seven children with optic glioma examined by visual evoked potential had an abnormal response ipsilateral to the tumour. The majority of the children received radiation therapy. After a mean follow up period of 5.8 years no deaths had occurred due to optic glioma, but in 35% of the children vision was worse. We conclude that optic glioma is a common, serious complication in NF-1 children. Routine care of such patients should include regular noninvasive investigations aimed at detecting lesions of the optic pathway.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955002
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Osteogenesis imperfecta and malignant hyperthermia (1996)
    Oxford, UK : Blackwell Publishing Ltd
    Anaesthesia 51 (1996), S. 0 
    Details
    ISSN: 1365-2044
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We describe a patient with osteogenesis imperfecta who developed tachycardia, metabolic and respiratory acidosis (pH 7.14, Pco2 8.4 kPa, BE 8.5 mmol.l-1) and hyperthermia up to 40°C during anaesthesia with barbiturates, fentanyl, pancuronium, and nitrous oxide. Malignant hyperthermia was suspected and the patient treated accordingly. Two years later the in-vitro contracture test for malignant hyperthermia was completely normal. We conclude that hypermetabolism in patients with osteogenesis imperfecta is due to unknown mechanisms other than malignant hyperthermia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2044.1996.tb12619.x
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  • 4
    Electronic Resource
    Electronic Resource
    False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency (2000)
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 634-635 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005690215265
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  • 5
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    Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing (2013)
    BMJ Publishing Group
    Details
    Publication Date: 2013-10-19
    Description: Background Mosaic IDH1 mutations are described as the cause of metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA), and mutations in IDH2 as the cause of D-2-hydroxyglutaric aciduria (D-2HGA) type II. Mosaicism for IDH2 mutations has not previously been reported as a cause of D-2HGA. Here we describe three cases: one MC-HGA case with IDH1 mosaic mutations, and two D-2HGA type II cases. In one D-2HGA case we identified mosaicism for an IDH2 mutation as the genetic cause of this disorder; the other D-2HGA case was caused by a heterozygous IDH2 mutation, while the unaffected mother was a mosaic carrier. Methods We performed amplicon deep sequencing using the 454 GS Junior platform, next to Sanger sequencing, to identify and confirm mosaicism of IDH1 or IDH2 mutations in MC-HGA or D-2HGA, respectively. Results and conclusions We identified different mutant allele percentages in DNA samples derived from different tissues (blood vs fibroblasts). Furthermore, we found that mutant allele percentages of IDH1 decreased after more passages had occurred in fibroblast cell cultures. We describe a method for the detection and validation of mosaic mutations in IDH1 and IDH2 , making quantification with laborious cloning techniques obsolete.
    Keywords: Genetic screening / counselling, Molecular genetics
    Print ISSN: 0022-2593
    Electronic ISSN: 1468-6244
    Topics: Medicine
    Published by BMJ Publishing Group
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  • 6
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    Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C〉T mutation in all patients (2012)
    BMJ Publishing Group
    Details
    Publication Date: 2012-12-14
    Description: Background Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C〉T mutation in IFITM5 . In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation. Methods IFITM5 exon 1 was analysed by Sanger sequencing in genomic DNA from 42 patients with OI type V (age: 2–67 years; 18 female). Results The c.–14C〉T mutation of IFITM5 was detected in all individuals. Indicators of disease severity varied widely: Height z-scores (n=38) ranged from –8.7 to –0.1, median –3.5. Median final height was 147 cm in men (N=15) and 145 cm in women (N=10). Lumbar spine areal bone mineral density z-scores in the absence of bisphosphonate treatment (n=29) were between –7.7 and –0.7, median –5.3. Scoliosis was present in 57%, vertebral compression fractures in 90% of patients. Conclusions Even though the disease-causing mutation is identical among patients with OI type V, the interindividual phenotypic variability is considerable.
    Keywords: Molecular genetics, Connective tissue disease, Calcium and bone
    Print ISSN: 0022-2593
    Electronic ISSN: 1468-6244
    Topics: Medicine
    Published by BMJ Publishing Group
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