15 results for author:"Utsch B." in Literature citations
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| Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). Otto E.A., Tory K., Attanasio M., Zhou W., Chaki M., Paruchuri Y., Wise E.L., Wolf M.T.F., Utsch B., Becker C. et al. J. Med. Genet. 46:663-670(2009) · UniProtKB (1) · Mapped (1) |
| Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? Utsch B., Brun-Heath I., Staatz G., Gravou-Apostolatou C., Karle S., Jacobs U., Ludwig M., Zenker M., Dorr H.G., Rascher W. et al. Exp. Clin. Endocrinol. Diabetes 117:28-33(2009) · Mapped (4) |
| Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. Utsch B., McCabe C.D., Galbraith K., Gonzalez R., Born M., Dotsch J., Ludwig M., Reutter H., Innis J.W. Am. J. Med. Genet. A 143A:3161-3168(2007) · Mapped (2) |
| Evidence of oligogenic inheritance in nephronophthisis. Hoefele J., Wolf M.T., O'Toole J.F., Otto E.A., Schultheiss U., Deschenes G., Attanasio M., Utsch B., Antignac C., Hildebrandt F. J. Am. Soc. Nephrol. 18:2789-2795(2007) · Mapped (11) |
| Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. Brun-Heath I., Lia-Baldini A.S., Maillard S., Taillandier A., Utsch B., Nunes M.E., Serre J.L., Mornet E. Eur J Med Genet 50:367-378(2007) · Mapped (4) |
| Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. Helou J., Otto E.A., Attanasio M., Allen S.J., Parisi M.A., Glass I., Utsch B., Hashmi S., Fazzi E., Omran H. et al. J. Med. Genet. 44:657-663(2007) · UniProtKB (1) · Mapped (3) |
| Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? Utsch B., DiFeo A., Kujat A., Karle S., Schuster V., Lenk H., Jacobs U., Mueller M., Doetsch J., Rascher W. et al. Am. J. Med. Genet. A 140:2251-2253(2006) · UniProtKB (1) |
| Hypercalciuria in patients with CLCN5 mutations. Ludwig M., Utsch B., Balluch B., Frund S., Kuwertz-Broking E., Bokenkamp A. Pediatr. Nephrol. 21:1241-1250(2006) · Mapped (3) |
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Sayer J.A., Otto E.A., O'toole J.F., Nurnberg G., Kennedy M.A., Becker C., Hennies H.C., Helou J., Attanasio M., Fausett B.V. et al. |
| Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Hoefele J., Sudbrak R., Reinhardt R., Lehrack S., Hennig S., Imm A., Muerb U., Utsch B., Attanasio M., O'Toole J.F. et al. |
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Otto E.A., Loeys B., Khanna H., Hellemans J., Sudbrak R., Fan S., Muerb U., O'Toole J.F., Helou J., Attanasio M. et al. |
| Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Innis J.W., Mortlock D., Chen Z., Ludwig M., Williams M.E., Williams T.M., Doyle C.D., Shao Z., Glynn M., Mikulic D. et al. Hum. Mol. Genet. 13:2841-2851(2004) · Mapped (8) |
| Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias. Utsch B., Kaya A., Ozburun A., Lentze M.J., Albers N., Ludwig M. Scand. J. Urol. Nephrol. 37:498-501(2003) · Mapped (6) |
| Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant. Ludwig M., Waldegger S., Nuutinen M., Bokenkamp A., Reissinger A., Steckelbroeck S., Utsch B. Kidney Blood Press. Res. 26:176-184(2003) · UniProtKB (1) · Mapped (2) |
| A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? Utsch B., Becker K., Brock D., Lentze M.J., Bidlingmaier F., Ludwig M. |