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  • 1
    Electronic Resource
    Electronic Resource
    Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 531-536 
    Details
    ISSN: 1432-0533
    Keywords: Key words: Type IV glycogenosis – Andersen disease – Branching enzyme deficiency – Neonatal hypotonia – Cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. A neonate with deficiency of branching enzyme (glycogenosis type IV) presented symptoms of severe hypotonia pre- and postnatally, and dilated cardiomyopathy in early infancy. The classical clinical manifestation of liver cirrhosis was not present, although amylopectin-like inclusions were found in the hepatocytes. In contrast to a previous report, the neurons in the brain stem and spinal anterior horns contained PAS-positive, diastase-resistant deposits. The combined involvement of the muscles and motor neurones could account for the severity of hypotonia. The muscle biopsy, electromyogram and biochemical and enzyme assays were helpful in establishing the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294181
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 531-536 
    Details
    ISSN: 1432-0533
    Keywords: Type IV glycogenosis ; Andersen disease ; Branching enzyme deficiency ; Neonatal hypotonia ; Cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A neonate with deficiency of branching enzyme (glycogenosis type IV) presented symptoms of severe hypotonia pre- and postnatally, and dilated cardiomyopathy in early infancy. The classical clinical manifestation of liver cirrhosis was not present, although amylopectin-like inclusions were found in the hepatocytes. In contrast to a previous report, the neurons in the brain stem and spinal anterior horns contained PAS-positive, diastase-resistant deposits. The combined involvement of the muscles and motor neurones could account for the severity of hypotonia. The muscle biopsy, electromyogram and biochemical and enzyme assays were helpful in establishing the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294181
    Location Call Number Limitation Availability
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 642-649 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin genePMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs). Molecular and fluorescence in situ hybridization (FISH) analyses were performed to determine the duplication status of thePMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these four patients, in addition to the complex phenotype associated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated withPMP22 gene duplication, thus providing further support for thePMP22 gene dosage mechanism for CMT1A.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02281876
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 642-649 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs). Molecular and fluorescence in situ hybridization (FISH) analyses were performed to determine the duplication status of the PMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these four patients, in addition to the complex phenotype associated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated with PMP22 gene duplication, thus providing further support for the PMP22 gene dosage mechanism for CMT1A.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050109
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Studies of malformation syndromes of man XXIX: The Wiedemann-Beckwith syndrome (1976)
    Springer
    European journal of pediatrics 123 (1976), S. 139-166 
    Details
    ISSN: 1432-1076
    Keywords: Wiedemann-Beckwith syndrome ; Wilm's tumor ; Hemihypertrophy ; Delayed mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and sporadic cases. Consistent morphologic features include organomegaly, cytomegaly nd nucleomegaly. The pathogenetic process may involve few or many organs and tissues and may represent a nuclear/mitotic dysfunction. Clinically, the manifestations are hyperplasia, hypoplasia, dysplasia, neoplasia and defects in differentiation. Secondary functional disturbances are at times prominent. The differential diagnosis of the WBS includes 1) the Wilms' tumor (WT)-aniridia syndrome; 2) the “tumor-hypertrophy syndrome” which includes WT, adrenocortical tumors or hepatoblastoma; 3) the WT-pseudohermaphroditism syndrome; and 4) the “tumor-nevus syndrome” with or without malformations (particularly duplications) of the urinary tract. The latter two conditions are apparently not associated with hemihypertrophy. Familial occurrence suggests that some cases of the WBS may be due to delayed mutation. Carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premutated allele but have no affected offspring.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00452093
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  • 6
    Electronic Resource
    Electronic Resource
    Bearing bad news: Dealing with the mimics of denial (1994)
    Springer
    Journal of genetic counseling 3 (1994), S. 5-12 
    Details
    ISSN: 1573-3599
    Keywords: denial
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Psychology
    Notes: Abstract Denial is a common label for certain reactions to bad news. However, true denial is rare, and most cases actually represent a variety of responses with very different causes and needs. Three of these, disbelief, deferral, and dismissal, are characterized according to origins and needs. Failure to differentiate between these seemingly similar behaviors can result in inappropriate counseling, and interfere with attempts to convey information and provide support during a time of crisis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01414602
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  • 7
    Electronic Resource
    Electronic Resource
    Scientific aspects of early eugenics (1993)
    Springer
    Journal of genetic counseling 2 (1993), S. 77-92 
    Details
    ISSN: 1573-3599
    Keywords: biometry ; Charles Davenport ; eugenics ; Mendelism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Psychology
    Notes: Abstract The eugenics movement supported applications of scientific breeding principles to humans, ultimately to encourage a better society, but actually with often disastrous social consequences. Although mostly viewed as quackery today, legitimate scientific considerations of fact and theory had an important role in determining the course of eugenics. A school of eugenics arose formally from attempts to apply Darwinian principles to humans in the context of biometry, a school that used statistical approaches to biology. Biometry emphasized blending inheritance and continuous traits, in marked contrast to the particulate inheritance of unit traits in Mendelism. Genetics was therefore a scientific challenge to eugenics, which was rooted in biometry. A Mendelian eugenics arose in the United States primarily under the influence of Charles Davenport. This paper reviews some of the technical issues involved in the development of this new paradigm, as well as Davenport's role as a scientist in this process.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00962541
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