Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kaate R.J. Vanmolkot"'
Autor:
Luciana R. Lopes, Mario Fernando Prieto Peres, Kaate R.J. Vanmolkot, Patrícia R. Tobo, Eliova Zukerman, Rune R. Frants, Arn M.J.M. van den Maagdenberg, Carlos Alberto Moreira-Filho
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 64, Iss 3a, Pp 549-552 (2006)
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are
Externí odkaz:
https://doaj.org/article/69b718fa49b649ac9f11843e8a1ea121
Autor:
Robert M.W. de Waal, Ben C.J. Hamel, Kaate R.J. Vanmolkot, Hans van Bokhoven, David J. Atherton, Volker Doetsch, W Andrew D Griffiths, John A. McGrath, Pascal H.G. Duijf, Annie Yang, Han G. Brunner, Arie van Haeringen, Seth J. Orlow, Frank McKeon, Alexander E. Kelly, Margreet G. E. M. Ausems, V Wessagowit, Alan D. Irvine, Michael A. Bamshad
Publikováno v:
Human Molecular Genetics, 10, 221--9
Scopus-Elsevier
Human Molecular Genetics, 10(3), 221-229. Oxford University Press
Human Molecular Genetics, 10, 3, pp. 221--9
Scopus-Elsevier
Human Molecular Genetics, 10(3), 221-229. Oxford University Press
Human Molecular Genetics, 10, 3, pp. 221--9
Item does not contain fulltext Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d19fcd157d9c29787edd7c79c0d3be
https://doi.org/10.1093/hmg/10.3.221
https://doi.org/10.1093/hmg/10.3.221
Autor:
Han G. Brunner, Frank McKeon, Waltraut Friedl, Elmar Krieger, Kaate R.J. Vanmolkot, Pascal H.G. Duijf, Peter Propping, Hans van Bokhoven, Volker Dötsch
Publikováno v:
Human Molecular Genetics, 11, 799-804
Human Molecular Genetics, 11, 7, pp. 799-804
Scopus-Elsevier
Human Molecular Genetics, 11, 7, pp. 799-804
Scopus-Elsevier
Item does not contain fulltext The transcriptional co-activator p63 is of crucial importance for correct development of the limbs, ectodermal appendages (skin, nails, teeth, hair, glands), lip and palate. Mutations in the p63 gene are found in a numb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::289ca5dd9800e498c363b0358cfb0a78
http://hdl.handle.net/2066/119498
http://hdl.handle.net/2066/119498
Autor:
John R.W. Yates, Jean Pierre Fryns, Andreas R. Janecke, Giangiorgio Crisponi, Hülya Kayserili, Jacopo Celli, Frank Majewski, Ellen van Beusekom, David Chitayat, Ruth Newbury-Ecob, Sylvia E. C. van Beersum, Frits A. Beemer, Han G. Brunner, Fiorella Gurrieri, Alain Verloes, Gerard Merkx, Annick Raas-Rotschild, Eugenio Sangiorgi, Hans van Bokhoven, Pascal H.G. Duijf, Ben C.J. Hamel, Kaate R.J. Vanmolkot, Michael J. Bamshad, Giovanni Neri, Romano Tenconi
Publikováno v:
American Journal of Human Genetics, 69, 481--92
American Journal of Human Genetics, 69, 3, pp. 481--92
American Journal of Human Genetics, 69, 3, pp. 481--92
Item does not contain fulltext p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e80e759a7065c7d73f51bf730760d3
http://hdl.handle.net/2066/120736
http://hdl.handle.net/2066/120736