1 - 25 of 61 results for author:"Zenker M." in Literature citations
Results Customize
› Repeat search in UniProtKB (336)
| Mutations in GRIP1 cause Fraser syndrome. Vogel M.J., van Zon P., Brueton L., Gijzen M., van Tuil M.C., Cox P., Schanze D., Kariminejad A., Ghaderi-Sohi S., Blair E. et al. J. Med. Genet. 49:303-306(2012) · UniProtKB (1) · Mapped (2) |
| Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Daniel P.B., Morgan T., Alanay Y., Bijlsma E., Cho T.J., Cole T., Collins F., David A., Devriendt K., Faivre L. et al. Hum. Mutat. 33:665-673(2012) · Mapped (3) |
| Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. Hwang C.S., Sukalo M., Batygin O., Addor M.C., Brunner H., Aytes A.P., Mayerle J., Song H.K., Varshavsky A., Zenker M. PLoS ONE 6:e24925-e24925(2011) · Mapped (3) |
| Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. Kraft M., Cirstea I.C., Voss A.K., Thomas T., Goehring I., Sheikh B.N., Gordon L., Scott H., Smyth G.K., Ahmadian M.R. et al. J. Clin. Invest. 121:3479-3491(2011) · Mapped (10) |
| Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. Schoner K., Fritz B., Huelskamp G., Louwen F., Zenker M., Moll R., Rehder H. Pediatr. Dev. Pathol. 15:50-57(2012) · Mapped (3) |
| Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Southgate L., Machado R.D., Snape K.M., Primeau M., Dafou D., Ruddy D.M., Branney P.A., Fisher M., Lee G.J., Simpson M.A. et al. Am. J. Hum. Genet. 88:574-585(2011) · UniProtKB (1) · Mapped (3) |
| COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Heeringa S.F., Chernin G., Chaki M., Zhou W., Sloan A.J., Ji Z., Xie L.X., Salviati L., Hurd T.W., Vega-Warner V. et al. J. Clin. Invest. 121:2013-2024(2011) · UniProtKB (3) · Mapped (8) |
| Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. Slavotinek A.M., Baranzini S.E., Schanze D., Labelle-Dumais C., Short K.M., Chao R., Yahyavi M., Bijlsma E.K., Chu C., Musone S. et al. J. Med. Genet. 48:375-382(2011) · UniProtKB (1) · Mapped (1) |
| NEK1 mutations cause short-rib polydactyly syndrome type majewski. Thiel C., Kessler K., Giessl A., Dimmler A., Shalev S.A., von der Haar S., Zenker M., Zahnleiter D., Stoss H., Beinder E. et al. Am. J. Hum. Genet. 88:106-114(2011) · UniProtKB (1) · Mapped (3) |
| Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Gremer L., Merbitz-Zahradnik T., Dvorsky R., Cirstea I.C., Kratz C.P., Zenker M., Wittinghofer A., Ahmadian M.R. |
| Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Endele S., Rosenberger G., Geider K., Popp B., Tamer C., Stefanova I., Milh M., Kortum F., Fritsch A., Pientka F.K. et al. |
| Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Fabretto A., Kutsche K., Harmsen M.B., Demarini S., Gasparini P., Fertz M.C., Zenker M. Eur. J. Med. Genet. 53:322-324(2010) · UniProtKB (1) · Mapped (6) |
| Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Martinelli S., De Luca A., Stellacci E., Rossi C., Checquolo S., Lepri F., Caputo V., Silvano M., Buscherini F., Consoli F. et al. Am. J. Hum. Genet. 87:250-257(2010) · UniProtKB (1) |
| Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Matejas V., Hinkes B., Alkandari F., Al-Gazali L., Annexstad E., Aytac M.B., Barrow M., Blahova K., Bockenhauer D., Cheong H.I. et al. Hum. Mutat. 31:992-1002(2010) · Mapped (3) |
| Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. Fallahi G.H., Sabbaghian M., Khalili M., Parvaneh N., Zenker M., Rezaei N. Eur. J. Pediatr. 170:233-235(2011) · Mapped (3) |
| Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Zweier M., Gregor A., Zweier C., Engels H., Sticht H., Wohlleber E., Bijlsma E.K., Holder S.E., Zenker M., Rossier E. et al. Hum. Mutat. 31:722-733(2010) · Mapped (5) |
| Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Schoeb D.S., Chernin G., Heeringa S.F., Matejas V., Held S., Vega-Warner V., Bockenhauer D., Vlangos C.N., Moorani K.N., Neuhaus T.J. et al. Nephrol. Dial. Transplant. 25:2970-2976(2010) · UniProtKB (1) · Mapped (1) |
| Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. Flotho C., Batz C., Hasle H., Bergstrasser E., van den Heuvel-Eibrink M.M., Zecca M., Niemeyer C.M., Zenker M. Blood 115:913-913(2010) · Mapped (2) |
| A restricted spectrum of NRAS mutations causes Noonan syndrome. Cirstea I.C., Kutsche K., Dvorsky R., Gremer L., Carta C., Horn D., Roberts A.E., Lepri F., Merbitz-Zahradnik T., Konig R. et al. |
| Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Cordeddu V., Di Schiavi E., Pennacchio L.A., Ma'ayan A., Sarkozy A., Fodale V., Cecchetti S., Cardinale A., Martin J., Schackwitz W. et al. |
| Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Thiel C., Wilken M., Zenker M., Sticht H., Fahsold R., Gusek-Schneider G.C., Rauch A. Am. J. Med. Genet. A 149A:1263-1267(2009) · Mapped (10) |
| Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. Koudova M., Seemanova E., Zenker M. Eur J Med Genet 52:337-340(2009) · Mapped (3) |
| Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. Kratz C.P., Zampino G., Kriek M., Kant S.G., Leoni C., Pantaleoni F., Oudesluys-Murphy A.M., Di Rocco C., Kloska S.P., Tartaglia M. et al. Am. J. Med. Genet. A 149:1036-1040(2009) · UniProtKB (1) · Mapped (6) |
| Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Harmsen M.B., Azzarello-Burri S., Garcia Gonzalez M.M., Gillessen-Kaesbach G., Meinecke P., Muller D., Rauch A., Rossier E., Seemanova E., Spaich C. et al. Eur. J. Hum. Genet. 17:1207-1215(2009) · UniProtKB (1) |
| Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Kleefstra T., van Zelst-Stams W.A., Nillesen W.M., Cormier-Daire V., Houge G., Foulds N., van Dooren M., Willemsen M.H., Pfundt R., Turner A. et al. J. Med. Genet. 46:598-606(2009) · UniProtKB (1) · Mapped (3) |