Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    In: Hormone Research in Paediatrics, S. Karger AG, Vol. 77, No. 5 ( 2012), p. 320-333
    Abstract: 〈 b 〉 〈 i 〉 Background/Aims: 〈 /i 〉 〈 /b 〉 In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing 〈 i 〉 GH1 〈 /i 〉 , 〈 i 〉 GHR 〈 /i 〉 , 〈 i 〉 STAT5B 〈 /i 〉 , 〈 i 〉 IGF1 〈 /i 〉 , and 〈 i 〉 IGFALS 〈 /i 〉 in children with GH insensitivity. 〈 b 〉 〈 i 〉 Subjects and Methods: 〈 /i 〉 〈 /b 〉 Patients were divided into three groups: group 1 (height SDS 〈 –2.5, IGF-I 〈 –2 SDS, n = 9), group 2 (height SDS –2.5 to –1.9, IGF-I 〈 –2 SDS, n = 6) and group 3 (height SDS 〈 –1.9, IGF-I –2 to 0 SDS, n = 21). An IGF-I generation test was performed in 11 patients. Genomic DNA was used for direct sequencing, multiplex ligation-dependent probe amplification and whole-genome SNP array analysis. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Three patients in group 1 had two novel heterozygous 〈 i 〉 STAT5B 〈 /i 〉 mutations, in two combined with novel 〈 i 〉 IGFALS 〈 /i 〉 variants. In groups 2 and 3 the association between genetic variants and short stature was uncertain. The IGF-I generation test was not predictive for the growth response to GH treatment. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 In severely short children with IGF-I deficiency, genetic assessment is advised. Heterozygous 〈 i 〉 STAT5B 〈 /i 〉 mutations, with or without heterozygous 〈 i 〉 IGFALS 〈 /i 〉 defects, may be associated with GH insensitivity. In children with less severe short stature or IGF-I deficiency, functional variants are rare.
    Type of Medium: Online Resource
    ISSN: 1663-2818 , 1663-2826
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2012
    detail.hit.zdb_id: 2540224-9
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    Online Resource
    Online Resource
    Brill ; 1983
    In:  Bijdragen tot de taal-, land- en volkenkunde / Journal of the Humanities and Social Sciences of Southeast Asia Vol. 139, No. 2 ( 1983), p. 366-384
    In: Bijdragen tot de taal-, land- en volkenkunde / Journal of the Humanities and Social Sciences of Southeast Asia, Brill, Vol. 139, No. 2 ( 1983), p. 366-384
    Abstract: - Clara Brakel, I. Madé Bandem, Kaja and Kelod: Balinese dance in transition, Oxford University Press, Kuala Lumpur 1981, 191 pp., 8 figs., 62 plates., Frederik Eugene DeBoer (eds.) - A. Duff-Cooper, Ingela Gerdin, The unknown Balinese. Land, labour and inequality in Lombok, Gothenburg studies in social anthropology 4. Gothenburg: Acta Universitatis Gothoburgensis, 1982. - C. van Dijk, Benedict Anderson, Interpreting Indonesian politics: thirteen contributions to de debate, Ithaca, New York, 1982. Cornell Modern Indonesia Project, Interim reports series (Publication no. 62)., Audrey Kahin (eds.) - C. van Dijk, A.P.E. Korver, Sarekat Islam 1912-1916; Opkomst, bloei en structuur van Indonesië’s eerste massabeweging. Amsterdam, 1982. - M. Hekker, E.E. Graves, The Minangkabau response to Dutch colonial rule in the nineteenth century, New York 1981. Cornell Modern Indonesia Project, Monograph series No. 60, 147 p. - M. Hekker, J.F. Warren, The Sulu Zone, 1768-1898. The dynamics of external trade, slavery and ethnicity in the transformation of a Southeast Asian maritime state. Singapore University Press, Singapore 1981. xix + 390 pp. - Peter Kloos, Elisabeth Locher-Scholten, Ethiek in fragmenten. Vijf studies over koloniaal denken en doen van Nederlanders in de Indonesische Archipel 1877-1942. Utrecht, HES Publishers, 1981, 224 pp. - Peter J. M. Nas, H.A. Breuning, Het voormalige Batavia. Een Hollandse stedestichting in de tropen anno 1619. Utrecht, 1981, 163 p. - Harry A. Poeze, Improving access to Indonesian collections in the Netherlands; Contributions to a survey of Dutch Library and documentation activities in the field of Indonesian studies, Intercontinenta no. 2, Leiden, 1981, 78 pp. - Harry A. Poeze, H.B. Donkersloot, Bibliografie van de Nederlandse buitenlandse politiek; Nederland - Indonesië 1942-1980. Geannoteerde systematische bibliografie. Universiteit van Amsterdam, 1982, 100 pp. - Leontine E. Visser, Roy Ellen, Environment, subsistence and system. The ecology of small-scale social formations, Cambridge, C.U.P. themes in the Social Science Series, 1982. vii-xvi, 324 pp.
    Type of Medium: Online Resource
    ISSN: 0006-2294 , 2213-4379
    Language: Unknown
    Publisher: Brill
    Publication Date: 1983
    detail.hit.zdb_id: 2484489-5
    SSG: 7,23
    SSG: 10
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. Further information can be found on the KOBV privacy pages