Výsledky vyhledávání - "F P, Cremers"

Akademický článek

First trimester secreted Frizzled-Related Protein 4 and other adipokine serum concentrations in women developing gestational diabetes mellitus.

Autor: Joost H N Schuitemaker, Rik H J Beernink, Arie Franx, Thomas I F H Cremers, Maria P H Koster

Publikováno v: PLoS ONE, Vol 15, Iss 11, p e0242423 (2020)

BackgroundThe aim of this study was to evaluate whether soluble frizzled-related protein 4 (sFRP4) concentration in the first trimester of pregnancy is individually, or in combination with Leptin, Chemerin and/or Adiponectin, associated with the deve

Externí odkaz: https://doaj.org/article/b547fccf629c4a4e8be01d5873aabafe

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Renal development and cystic diseases

Autor: C. Cabrera-Lopez, E. Ars, T. Marti, P. C. Harris, R. Torra, C. Clerckx, T. Migeon, Z. Chen, P. Ronco, E. Plaisier, I. J. Lamers, J. Van Reeuwijk, M. Azam, K. Boldt, M. Maria, L. Koster-Kamphuis, R. Qamar, M. Ueffing, F. P. Cremers, R. Roepman, H. H. Arts, S. Papizh, V. Dlin, I. Leontieva, K. Tutelman, R. D. Perrone, K. T. Bae, A. B. Chapman, O. Devuyst, R. T. Gansevoort, J. J. Grantham, E. Higashihara, V. E. Torres, O. Sergeyeva, W. Zhou, J. D. Blais, F. S. Czerwiec, F. Liu, Y. Liao, P. Fu, N. Casteleijn, D. Zittema, S. Bakker, W. Boertien, C. Gaillard, E. Meijer, E. Spithoven, J. Struck, R. Gansevoort, P. Robinson, P. McEwan, H. Hadimeri, A. C. M. Ong, B. Orskov, R. Peces, R. Sandford, F. Scolari, G. Walz, C. Cooke, K. O'Reilly, M. Riwanto, S. Kapoor, D. Rodriguez, I. Edenhofer, S. Segerer, R. P. Wuthrich, S. De Rechter, J. Bacchetta, M. Van Dyck, P. Evenepoel, J. De Schepper, E. Levtchenko, D. Mekahli, A. Carr, A. Makin, A. Baker, L. Obeidova, J. Stekrova, T. Seeman, A. Puchmajerova, J. Reiterova, M. Kohoutova, V. Tesar, S. Treille, J.-M. Bailly, B. Guillaume, L. Tuta, A. Stanigut, F. Botea, H. A. Jo, H. C. Park, H. Kim, M. Han, H. Huh, J. C. Jeong, K.-H. Oh, J. Yang, T. Y. Koo, Y.-H. Hwang, C. Ahn, A. Pisani, G. Remuzzi, P. Ruggenenti, E. Riccio, B. Visciano, L. Spinelli, J. I. Kim, K. M. Park, F. X. Liu, P. Rutherford, K. Smoyer-Tomic, V. Martinez Jimenez, J. Comas, E. Arcos, J. M. Diaz, S. Muray, J. Cabezuelo, J. Ballarin, T. Miyaoka, S. Morimoto, H. Kataoka, T. Mochizuki, K. Tsuchiya, A. Ichihara, K. Nitta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99568170572446ca38502ff0bb707ce8
https://ora.ox.ac.uk/objects/uuid:ea376987-542f-48fd-a091-437b8ef9f7ff

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The ins and outs of X-linked deafness type 3

Autor: F P, Cremers, C W, Cremers, H H, Ropers

Publikováno v: Advances in oto-rhino-laryngology. 56

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b723697ec8aa86758f66556bad221315
https://pubmed.ncbi.nlm.nih.gov/10868234

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Assignment1 of H7365 (C9orf2) to human chromosome band 9q31 by somatic cell hybrid analysis and fluorescence in situ hybridization

Autor: D W, Eib, G F, Merkx, G J, Martens, F P, Cremers

Publikováno v: Cytogenetics and cell genetics. 81(3-4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cba09d458a326f941c1c0db57555d48e
https://pubmed.ncbi.nlm.nih.gov/9730596

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Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

Autor: J A, van den Hurk, M, Schwartz, H, van Bokhoven, T J, van de Pol, L, Bogerd, A J, Pinckers, E M, Bleeker-Wagemakers, I H, Pawlowitzki, K, Rüther, H H, Ropers, F P, Cremers

Publikováno v: Human mutation. 9(2)

Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5325f095f1f08a480e1143a1f48929c7
https://pubmed.ncbi.nlm.nih.gov/9067750

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The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation

Autor: Y J, de Kok, C W, Cremers, H H, Ropers, F P, Cremers

Publikováno v: Human mutation. 10(3)

We have investigated two unrelated males with X-linked deafness type 3 (DFN3) for mutations in the POU3F4 gene. In one patient, we observed a mutation that is predicted to result in an Arg330Ser amino acid substitution. In another DFN3 patient, a som

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1172dd8224e3a972ae8de7cea96b7813
https://pubmed.ncbi.nlm.nih.gov/9298820

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REP-2, a Rab escort protein encoded by the choroideremia-like gene

Autor: F P, Cremers, S A, Armstrong, M C, Seabra, M S, Brown, J L, Goldstein

Publikováno v: The Journal of biological chemistry. 269(3)

Rab escort proteins (REPs) bind to newly synthesized Rab proteins and remain bound during and after the attachment of a geranylgeranyl (GG) group by the catalytic component of the Rab GG transferase. Transfer of the GG group is absolutely dependent o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8b514e13511322ed31e047a57e251259
https://pubmed.ncbi.nlm.nih.gov/8294464

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Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)

Autor: I, Bach, H G, Brunner, P, Beighton, R H, Ruvalcaba, W, Reardon, M E, Pembrey, S D, van der Velde-Visser, G A, Bruns, C W, Cremers, F P, Cremers

Publikováno v: American journal of human genetics. 51(1)

Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible deletions. For two of these patients, microdeletion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::05b05772ae1eb1be5ac0b006492164cd
https://pubmed.ncbi.nlm.nih.gov/1609803

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Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I

Autor: Y, Shiloh, G, Litvak, Y, Ziv, T, Lehner, L, Sandkuyl, M, Hildesheimer, V, Buchris, F P, Cremers, P, Szabo, B N, White

Publikováno v: American journal of human genetics. 47(1)

X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness. The ADFN mutation probably affects the migration of neural crest-derived precursors of the melano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13a78e7d3d5ac570057b0befb3819bb8
https://pubmed.ncbi.nlm.nih.gov/2349949

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Ultrastructural localization and characterization of proteoglycans in human lung alveoli

Autor: T H, van Kuppevelt, F P, Cremers, J G, Domen, H M, van Beuningen, A J, van den Brule, C M, Kuyper

Publikováno v: European journal of cell biology. 36(1)

In order to localize and characterize proteoglycans in human lung alveoli, we have used the cationic dye Cuprolinic Blue according to the critical electrolyte concentration method. After staining, five types of Cuprolinic Blue-positive filaments beco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f44fc195d4d2116dac529719310a9b2
https://pubmed.ncbi.nlm.nih.gov/3979403

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