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  • 1
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Biochemistry 7 (1968), S. 3744-3753 
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0428
    Keywords: Key words Familial aggregation ; diabetes mellitus ; nephropathy.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Both non-insulin-dependent diabetes mellitus and diabetic nephropathy show familial aggregation. If diabetes and renal disease have independent determinants (genetic or otherwise), offspring of parents with diabetic renal disease should have a similar risk of diabetes to those offspring of parents with diabetes alone. To test this hypothesis, the prevalence of diabetes was examined in a population-based pedigree study in Pima Indian offspring of three mutually exclusive parental types: 1) diabetic with renal disease, 2) diabetic, but without renal disease and 3) non-diabetic. Among offspring of one diabetic parent and one non-diabetic parent (n = 320) the prevalence of diabetes at ages 15–24 years and 25–34 years was 0 % and 11 %, respectively if the diabetic parent did not have renal disease compared with 6 % and 28 % respectively if the diabetic parent did have renal disease. Corresponding rates for offspring of two diabetic parents (n = 121) were 10 % and 17 %, respectively if neither parent had renal disease compared with 30 % and 50 %, respectively if one parent did have renal disease. The presence of renal disease in a parent with diabetes relative to diabetes alone was associated with 2.5 times the odds of diabetes (95 % confidence interval 1.4–4.3) in the offspring controlled for age, age at onset of parental diabetes and diabetes in the other parent using logistic regression. These findings provide support for parental diabetic renal disease, independent of age at onset of parental diabetes, conferring an increased risk for diabetes in the offspring. The results are compatible with the hypothesis that the susceptibility to renal disease in the parents and to diabetes in the offspring are due to shared familial environmental factors or to the same gene or set of genes. [Diabetologia (1995) 38: 221–226]
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0428
    Keywords: Familial aggregation ; diabetes mellitus ; nephropathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Both non-insulin-dependent diabetes mellitus and diabetic nephropathy show familial aggregation. If diabetes and renal disease have independent determinants (genetic or otherwise), offspring of parents with diabetic renal disease should have a similar risk of diabetes to those offspring of parents with diabetes alone. To test this hypothesis, the prevalence of diabetes was examined in a population-based pedigree study in Pima Indian offspring of three mutually exclusive parental types: 1) diabetic with renal disease, 2) diabetic, but without renal disease and 3) non-diabetic. Among offspring of one diabetic parent and one non-diabetic parent (n=320) the prevalence of diabetes at ages 15–24 years and 25–34 years was 0% and 11%, respectively if the diabetic parent did not have renal disease compared with 6% and 28% respectively if the diabetic parent did have renal disease. Corresponding rates for offspring of two diabetic parents (n=121) were 10% and 17%, respectively if neither parent had renal disease compared with 30% and 50%, respectively if one parent did have renal disease. The presence of renal disease in a parent with diabetes relative to diabetes alone was associated with 2.5 times the odds of diabetes (95% confidence interval 1.4–4.3) in the offspring controlled for age, age at onset of parental diabetes and diabetes in the other parent using logistic regression. These findings provide support for parental diabetic renal disease, independent of age at onset of parental diabetes, conferring an increased risk for diabetes in the offspring. The results are compatible with the hypothesis that the susceptibility to renal disease in the parents and to diabetes in the offspring are due to shared familial environmental factors or to the same gene or set of genes.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Medical microbiology and immunology 175 (1986), S. 61-62 
    ISSN: 1432-1831
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    The @journal of child psychology and psychiatry 37 (1996), S. 0 
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Notes: The Children's Nonword Repetition Test (CNRep) was given to 39 children with persistent language impairment (LI), 13 with a history of having received speech-language therapy (resolved LI), and 79 controls, all aged from 7 to 9 years. The children with LI were twins who had participated in a previous genetic study. Children with resolved LI, as well as those with persistent LI. were significantly impaired on the CNRep. Comparisons of MZ and DZ twins indicated significant heritability of a CNRep deficit. It is concluded that CNRep provides a marker of the phenotype of heritable forms of developmental language impairment.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    The @journal of child psychology and psychiatry 33 (1992), S. 0 
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK and Boston, USA : Blackwell Publishers Ltd.
    The @journal of child psychology and psychiatry 39 (1998), S. 0 
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Notes: The Children's Communication Checklist (CCC) was developed to assess aspects of communicative impairment that are not adequately evaluated by contemporary standardised language tests. These are predominantly pragmatic abnormalities seen in social communication, although other qualitative aspects of speech and language were also included. Some items covering social relationships and restricted interests were incorporated, so that the relationship between pragmatic difficulties and other characteristics of pervasive developmental disorders could be explored. Checklist ratings were obtained for 76 children aged 7 to 9 years, all of whom had received special education for language impairment. In 71 cases, 2 raters (usually a teacher and speech-language therapist) independently completed the checklist, making it possible to establish inter-rater reliability. From an initial pool of 93 items, 70 items, grouped into 9 scales, were retained. Five of the subscales were concerned with pragmatic aspects of communication. A composite pragmatic impairment scale formed from these subscales had inter-rater reliability and internal consistency of around .80. This composite discriminated between children with a school diagnosis of semantic-pragmatic disorder and those with other types of specific language impairment (SLI). The majority of children with pragmatic language impairments did not have any evidence of restricted interests or significant difficulties in the domains of social relationships.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    The @journal of child psychology and psychiatry 34 (1993), S. 0 
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    The @journal of child psychology and psychiatry 28 (1987), S. 0 
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Type of Medium: Electronic Resource
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