18 results for author:"van Reeuwijk J." in Literature citations
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| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A. et al. |
| Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Kleefstra T., Kramer J.M., Neveling K., Willemsen M.H., Koemans T.S., Vissers L.E., Wissink-Lindhout W., Fenckova M., van den Akker W.M., Kasri N.N. et al. Am. J. Hum. Genet. 91:73-82(2012) · Mapped (17) |
| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Roscioli T., Kamsteeg E.J., Buysse K., Maystadt I., van Reeuwijk J., van den Elzen C., van Beusekom E., Riemersma M., Pfundt R., Vissers L.E. et al. |
| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. Lefeber D.J., de Brouwer A.P., Morava E., Riemersma M., Schuurs-Hoeijmakers J.H., Absmanner B., Verrijp K., van den Akker W.M., Huijben K., Steenbergen G. et al. PLoS Genet. 7:e1002427-e1002427(2011) · Mapped (2) |
| The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Coene K.L., Mans D.A., Boldt K., Gloeckner C.J., van Reeuwijk J., Bolat E., Roosing S., Letteboer S.J., Peters T.A., Cremers F.P. et al. Hum. Mol. Genet. 20:3592-3605(2011) · Mapped (8) |
| Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. Boldt K., Mans D.A., Won J., van Reeuwijk J., Vogt A., Kinkl N., Letteboer S.J., Hicks W.L., Hurd R.E., Naggert J.K. et al. J. Clin. Invest. 121:2169-2180(2011) · Mapped (5) |
| A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Morava E., Wevers R.A., Cantagrel V., Hoefsloot L.H., Al-Gazali L., Schoots J., van Rooij A., Huijben K., van Ravenswaaij-Arts C.M., Jongmans M.C. et al. Brain 133:3210-3220(2010) · Mapped (1) |
| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C., Patil S.B., Levy S., Ghosh A.K., Murga-Zamalloa C.A. et al. |
| Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Gilissen C., Arts H.H., Hoischen A., Spruijt L., Mans D.A., Arts P., van Lier B., Steehouwer M., van Reeuwijk J., Kant S.G. et al. Am. J. Hum. Genet. 87:418-423(2010) · UniProtKB (1) · Mapped (2) |
| A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Van Reeuwijk J., Olderode-Berends M.J., Van den Elzen C., Brouwer O.F., Roscioli T., Van Pampus M.G., Scheffer H., Brunner H.G., Van Bokhoven H., Hol F.A. Clin. Genet. 78:275-281(2010) · Mapped (1) |
| Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network. Kersten F.F., van Wijk E., van Reeuwijk J., van der Zwaag B., Marker T., Peters T.A., Katsanis N., Wolfrum U., Keunen J.E., Roepman R. et al. Invest. Ophthalmol. Vis. Sci. 51:2338-2346(2010) · Mapped (3) |
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Kornak U., Reynders E., Dimopoulou A., van Reeuwijk J., Fischer B., Rajab A., Budde B., Nuernberg P., Foulquier F., Dobyns W.B. et al. |
| POMT2 mutation in a patient with 'MEB-like' phenotype. Mercuri E., D'Amico A., Tessa A., Berardinelli A., Pane M., Messina S., van Reeuwijk J., Bertini E., Muntoni F., Santorelli F.M. Neuromuscul. Disord. 16:446-448(2006) · UniProtKB (1) |
| The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. van Reeuwijk J., Maugenre S., van den Elzen C., Verrips A., Bertini E., Muntoni F., Merlini L., Scheffer H., Brunner H.G., Guicheney P. et al. Hum. Mutat. 27:453-459(2006) · UniProtKB (1) |
| ZNF674: a new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Lugtenberg D., Yntema H.G., Banning M.J.G., Oudakker A.R., Firth H.V., Willatt L., Raynaud M., Kleefstra T., Fryns J.-P., Ropers H.-H. et al. Am. J. Hum. Genet. 78:265-278(2006) · UniProtKB (1) |
| POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. van Reeuwijk J., Janssen M., van den Elzen C., Beltran-Valero de Bernabe D., Sabatelli P., Merlini L., Boon M., Scheffer H., Brockington M., Muntoni F. et al. J. Med. Genet. 42:907-912(2005) · UniProtKB (1) · Mapped (2) |
| MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. van Bokhoven H., Celli J., van Reeuwijk J., Rinne T., Glaudemans B., van Beusekom E., Rieu P., Newbury-Ecob R.A., Chiang C., Brunner H.G. Nat. Genet. 37:465-467(2005) · UniProtKB (1) |
| Salmonella typhimurium encodes an SdiA homolog, a putative quorum sensor of the LuxR family, that regulates genes on the virulence plasmid. Ahmer B.M., van Reeuwijk J., Timmers C.D., Valentine P.J., Heffron F. J. Bacteriol. 180:1185-1193(1998) · UniProtKB (4) · Mapped (1) |