Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Arjenne L. W. Hesseling-Janssen"'
Autor:
Isabel Cordeiro, Phillip T. Brook-Carter, Douglas R. Higgs, Jim R. Hughes, Lia Spruit, Heloisa Santos, Arjenne L. W. Hesseling-Janssen, C. Ratcliffe, Martijn H. Breuning, Peter C. Harris, Dick Lindhout, S. Verhoef, Dorien J.M. Peters, Jeroen H. Roelfsema, Peter Buckle, Ans M.W. van den Ouweland, Hans G. Dauwerse, Mark Nellist, Magitha M. Maheshwar, Bert Eussen, Belén Peral, Peter Kearney, Bart Janssen, Julian R. Sampson, Jackie Sloane-Stanley, Dicky J. J. Halley, Pedro Cabral, A MacCarthy, Christopher S. Ward, Jasper J. Saris, Vicki Gamble, Siep Thomas
Publikováno v:
ResearcherID
Publons
Publons
textabstractAutosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal fallure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3. We identified a chromosome translocati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfd60d164a69ff02a8258eb359bd6d5
https://doi.org/10.1016/0092-8674(94)90137-6
https://doi.org/10.1016/0092-8674(94)90137-6
Autor:
Peter C. Harris, Heloisa Santos, Dicky J. J. Halley, Dick Lindhout, Senno Verhoef, Isabel Cordeiro, Ans M.W. van den Ouweland, Christopher J. Ward, Dorien J.M. Peters, Jim R. Hughes, Belén Peral, Lia Spruit, Arjenne L. W. Hesseling-Janssen, Phillip T. Brook-Carter, Jeroen H. Roelfsema, Sandra Thomas, J. G. Dauwerse, Mark Nellist, Martijn H. Bruening, Magitha M. Maheshwar, Julian R. Sampson, Jasper J. Saris, Bert Eussen, Bart Janssen
Publikováno v:
Cell. 75:1305-1315
Tuberous sclerosis (TSC) is an autosomal dominant multisystem disorder with loci assigned to chromosomes 9 and 16. Using pulsed-field gel electrophoresis (PFGE), we identified five TSC-associated deletions at 16p13.3. These were mapped to a 120 kb re
Pfeifferʼs Syndrome Resulting From an S351C Mutation in the Fibroblast Growth Factor Receptor-2 Gene
Autor:
A. M. W. Van Den Ouweland, Arjenne L. W. Hesseling-Janssen, A. J. M. Hoogeboom, Irene M.J. Mathijssen, J. M. Vaandrager
Publikováno v:
Journal of Craniofacial Surgery. 9:207-209
For four of the most well-known craniosynostosis syndromes--Apert's, Crouzon's, Pfeiffer's, and Jackson-Weiss' syndromes--mutations in the fibroblast growth factor receptors (FGFRs) have been described. These substitutions arise mainly in the FGFR-2
Autor:
Anita M.P. Tempelaars, L. Bakker, Alberto Fois, Gabriella Bartalini, Dick Lindhout, Senno Verhoef, Bernard A. Zonnenberg, Sergiusz Jozwiak, Tadeusz Mazurczak, Ans M.W. van den Ouweland, Dicky J. J. Halley, Arjenne L. W. Hesseling-Janssen, Anthonie J. van Essen
Publikováno v:
American Journal of Human Genetics, 64(6), 1632-1637. CELL PRESS
American Journal of Human Genetics, 64, 1632-1637. Cell Press
American Journal of Human Genetics, 64, 1632-1637. Cell Press
SummarySix families with mosaicism are identified in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (TSC) genes, TSC1 or TSC2. In five families, somatic mosaicism was present in a mildly affected parent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::834413d22ecc20141a67515daefcc5c8
https://research.rug.nl/en/publications/22c95824-714c-45ae-900d-2324030e8454
https://research.rug.nl/en/publications/22c95824-714c-45ae-900d-2324030e8454