19
results
for author:"Sudbrak R."
in Literature Citations
| The DNA sequence, annotation and analysis of human chromosome 3. Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y. et al. Nature 440:1194-1198(2006) · UniProtKB (2,861) |
| DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Hornef N., Olbrich H., Horvath J., Zariwala M.A., Fliegauf M., Loges N.T., Wildhaber J., Noone P.G., Kennedy M., Antonarakis S.E. et al. Am. J. Respir. Crit. Care Med. 174:120-126(2006) · UniProtKB (1) · Mapped (2) |
| Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. Horvath J., Fliegauf M., Olbrich H., Kispert A., King S.M., Mitchison H., Zariwala M.A., Knowles M.R., Sudbrak R., Fekete G. et al. Am. J. Respir. Cell Mol. Biol. 33:41-47(2005) · UniProtKB (2) · Mapped (1) |
| 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. |
| The DNA sequence of the human X chromosome. Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P. et al. Nature 434:325-337(2005) · UniProtKB (1,199) |
| 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. |
| DNA sequence and comparative analysis of chimpanzee chromosome 22. Watanabe H., Fujiyama A., Hattori M., Taylor T.D., Toyoda A., Kuroki Y., Noguchi H., BenKahla A., Lehrach H., Sudbrak R. et al. Nature 429:382-388(2004) · UniProtKB (20) |
| The genomic sequence and comparative analysis of the rat major histocompatibility complex. Hurt P., Walter L., Sudbrak R., Klages S., Mueller I., Shiina T., Inoko H., Lehrach H., Guenther E., Reinhardt R. et al. |
| Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Olbrich H., Fliegauf M., Hoefele J., Kispert A., Otto E., Volz A., Wolf M.T., Sasmaz G., Trauer U., Reinhardt R. et al. |
| Comparative and evolutionary analysis of the rhesus macaque extended MHC class II region. Sudbrak R., Reinhardt R., Hennig S., Lehrach H., Gunther E., Walter L. Immunogenetics 54:699-704(2003) · UniProtKB (4) |
| Physical mapping of the major histocompatibility complex class II and class III regions of the rat. Walter L., Hurt P., Himmelbauer H., Sudbrak R., Guenther E. Immunogenetics 54:268-275(2002) · UniProtKB (3) · Mapped (3) |
| Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. Dobson-Stone C., Fairclough R., Dunne E., Brown J., Dissanayake M., Munro C.S., Strachan T., Burge S., Sudbrak R., Monaco A.P. et al. J. Invest. Dermatol. 118:338-343(2002) · UniProtKB (1) · Mapped (5) |
| Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Olbrich H., Haeffner K., Kispert A., Voelkel A., Volz A., Sasmaz G., Reinhardt R., Hennig S., Lehrach H., Konietzko N. et al. Nat. Genet. 30:143-144(2002) · UniProtKB (2) |
| ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1. Nolte D., Ramser J., Niemann S., Lehrach H., Sudbrak R., Mueller U. Neurogenetics 3:207-213(2001) · UniProtKB (1) |
| Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Birkenhaeger R., Otto E., Schuermann M.J., Vollmer M., Ruf E.-M., Maier-Lutz I., Beekmann F., Fekete A., Omran H., Feldmann D. et al. Nat. Genet. 29:310-314(2001) · UniProtKB (2) |
| Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. Omran H., Haffner K., Burth S., Fernandez C., Fargier B., Villaquiran A., Nothwang H.G., Schnittger S., Lehrach H., Woo D. et al. J. Am. Soc. Nephrol. 12:107-113(2001) · Mapped (9) |
| Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Sudbrak R., Brown J., Dobson-Stone C., Carter S., Ramser J., White J., Healy E., Dissanayake M., Larregue M., Perrussel M. et al. Hum. Mol. Genet. 9:1131-1140(2000) · UniProtKB (1) · Mapped (1) |
| Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia. McDonell N., Ramser J., Francis F., Vinet M.-C., Rider S., Sudbrak R., Riesselman L., Yaspo M.-L., Reinhardt R., Monaco A.P. et al. Genomics 64:221-229(2000) · UniProtKB (1) |
| A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Zemni R., Bienvenu T., Vinet M.C., Sefiani A., Carrie A., Billuart P., McDonell N., Couvert P., Francis F., Chafey P. et al. |
