Zobrazeno 1 - 10 of 13 pro vyhledávání: '"N V, Knoers"'
1
[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]
Autor: E N, Levtchenko, L A H, Monnens, A, Bökenkamp, N V, Knoers
Publikováno v: Nederlands tijdschrift voor geneeskunde. 151(43)
Dent's disease is an X-linked disorder, characterized by generalized proximal tubular dysfunction, nephrolithiasis, nephrocalcinosis and the development ofend-stage renal disease, generally occurring after the age of thirty. In the majority of cases,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1f4e7ba3591001741f85a4556bd66e2e
https://pubmed.ncbi.nlm.nih.gov/18019214
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2
[From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus]
Autor: N V, Knoers, P M, Deen
Publikováno v: Nederlands tijdschrift voor geneeskunde. 144(50)
In the kidney, binding of arginine vasopressin to the vasopressin type-2 receptor (V2R) causes redistribution of aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical cell membrane, a process which initiates urine concentration.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d26de19ffa822eee4f9ea7c3daae51c6
https://pubmed.ncbi.nlm.nih.gov/11145096
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5
Nephrogenic diabetes insipidus
Autor: N V, Knoers, L L, Monnens
Publikováno v: Seminars in nephrology. 19(4)
In spite of its rare incidence, the inherited renal tubular disorder nephrogenic diabetes insipidus (NDI) has in the past 10 years attracted the attention of a varied group of medical doctors and basic scientists. With the identification of the two g
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1b12b53418456565f0a4f87cc862f7d1
https://pubmed.ncbi.nlm.nih.gov/10435672
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6
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
Autor: H G, Yntema, B, van den Helm, N V, Knoers, A P, Smits, T, van Roosmalen, D F, Smeets, E C, Mariman, I, van der Burgt, H, van Bokhoven, H H, Ropers, H, Kremer, B C, Hamel
Publikováno v: American journal of medical genetics. 85(3)
We report linkage analysis in a new family with nonspecific X-linked mental retardation, using 27 polymorphic markers covering the entire X-chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with fl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f2a5357914d635fea24d41b66513e36d
https://pubmed.ncbi.nlm.nih.gov/10398247
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7
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis
Autor: B C, Hamel, A P, Smits, B, van den Helm, D F, Smeets, N V, Knoers, T, van Roosmalen, G H, Thoonen, C F, Assman-Hulsmans, H H, Ropers, E C, Mariman, H, Kremer
Publikováno v: American journal of medical genetics. 85(3)
Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5a580f964041d34c14edaf9dde9fc869
https://pubmed.ncbi.nlm.nih.gov/10398246
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8
[Congenital nephrogenic diabetes insipidus: a difficult diagnosis?]
Autor: A F, van Lieburg, N V, Knoers, L A, Monnens
Publikováno v: Nederlands tijdschrift voor geneeskunde. 141(13)
In five patients (a boy aged 10 years, a boy aged 3 months, his brother aged 1 week, the brother of the mother of the last-mentioned two boys who had died at the age of one, and a girl of kindergarten age) congenital nephrogenic diabetes insipidus wa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b889e29d6dc4c2610c3f7484646fd9e
https://pubmed.ncbi.nlm.nih.gov/9190534
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Plný text Recenzováno Digitální knihovna AV ČR
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