20
results
for author:"Steglich C."
in Literature Citations
| The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Meyer A., Kossow K., Gal A., Steglich C., Muehlhausen C., Ullrich K., Braulke T., Muschol N. |
| Patterns and implications of gene gain and loss in the evolution of Prochlorococcus. Kettler G.C., Martiny A.C., Huang K., Zucker J., Coleman M.L., Rodrigue S., Chen F., Lapidus A., Ferriera S., Johnson J. et al. PLoS Genet. 3:2515-2528(2007) · UniProtKB (16,864) |
| Genomic islands and the ecology and evolution of Prochlorococcus. Coleman M.L., Sullivan M.B., Martiny A.C., Steglich C., Barry K., Delong E.F., Chisholm S.W. Science 311:1768-1770(2006) · UniProtKB (802) |
| Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. Huebner C.A., Orth U., Senning A., Steglich C., Kohlschuetter A., Korinthenberg R., Gal A. |
| LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. Schlickum S., Moghekar A., Simpson J.C., Steglich C., O'Brien R.J., Winterpacht A., Endele S.U. Genomics 83:254-261(2004) · UniProtKB (1) |
| Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Grohmann K., Varon R., Stolz P., Schuelke M., Janetzki C., Bertini E., Bushby K., Muntoni F., Ouvrier R., Van Maldergem L. et al. Ann. Neurol. 54:719-724(2003) · UniProtKB (1) |
| Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Varon R., Gooding R., Steglich C., Marns L., Tang H., Angelicheva D., Yong K.K., Ambrugger P., Reinhold A., Morar B. et al. Nat. Genet. 35:185-189(2003) · UniProtKB (1) |
| Genome divergence in two Prochlorococcus ecotypes reflects oceanic niche differentiation. Rocap G., Larimer F.W., Lamerdin J.E., Malfatti S., Chain P., Ahlgren N.A., Arellano A., Coleman M., Hauser L., Hess W.R. et al. Nature 424:1042-1047(2003) · UniProtKB (4,772) |
| Analysis of natural populations of Prochlorococcus spp. in the northern Red Sea using phycoerythrin gene sequences. Steglich C., Post A.F., Hess W.R. Environ. Microbiol. 5:681-690(2003) · UniProtKB (107) |
| Phycoerythrins of the oxyphotobacterium Prochlorococcus marinus are associated to the thylakoid membrane and are encoded by a single large gene cluster. Hess W.R., Steglich C., Lichtle C., Partensky F. Plant Mol. Biol. 40:507-521(1999) · UniProtKB (10) |
| Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. Bunge S., Knigge A., Steglich C., Kleijer W.J., van Diggelen O.P., Beck M., Gal A. J. Med. Genet. 36:28-31(1999) · UniProtKB (1) |
| Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Bunge S., Ince H., Steglich C., Kleijer W.J., Beck M., Zaremba J., van Diggelen O.P., Weber B., Hopwood J.J., Gal A. Hum. Mutat. 10:479-485(1997) · UniProtKB (1) |
| Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Bunge S., Kleijer W.J., Tylki-Szymanska A., Steglich C., Beck M., Tomatsu S., Fukuda S., Poorthuis B.J.H.M., Czartoryska B., Orii T. et al. Hum. Mutat. 10:223-232(1997) · UniProtKB (1) |
| Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Bunge S., Steglich C., Zuther C., Beck M., Morris C.P., Schwinger E., Schinzel A., Hopwood J.J., Gal A. Hum. Mol. Genet. 2:1871-1875(1993) · UniProtKB (1) |
| Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hopwood J.J., Bunge S., Morris C.P., Wilson P.J., Steglich C., Beck M., Schwinger E., Gal A. Hum. Mutat. 2:435-442(1993) · UniProtKB (1) |
| Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Bunge S., Kleijer W.J., Steglich C., Beck M., Zuther C., Morris C.P., Schwinger E., Hopwood J.J., Scott H.S., Gal A. Hum. Mol. Genet. 3:861-866(1994) · UniProtKB (1) |
| Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). Popowska E., Rathmann M., Tylki-Szymanska A., Bunge S., Steglich C., Schwinger E., Gal A. Hum. Mutat. 5:97-100(1995) · UniProtKB (1) |
| Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. Bunge S., Kleijer W.J., Steglich C., Beck M., Schwinger E., Gal A. Hum. Mutat. 6:91-94(1995) · UniProtKB (1) |
| Nucleotide sequence of the Chinese hamster ornithine decarboxylase gene. Grens A., Steglich C., Pilz R., Scheffler I.E. Nucleic Acids Res. 17:10497-10497(1989) · UniProtKB (1) |
| Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Bunge S., Steglich C., Beck M., Rosenkranz W., Schwinger E., Hopwood J.J., Gal A. Hum. Mol. Genet. 1:335-339(1992) · UniProtKB (1) |
