17
results
for author:"Ramser J."
in Literature Citations
| Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker. Sadr-Nabavi A., Ramser J., Volkmann J., Naehrig J., Wiesmann F., Betz B., Hellebrand H., Engert S., Seitz S., Kreutzfeld R. et al. Int. J. Cancer 124:1727-1735(2009) · Mapped (9) |
| Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Ramser J., Ahearn M.E., Lenski C., Yariz K.O., Hellebrand H., von Rhein M., Clark R.D., Schmutzler R.K., Lichtner P., Hoffman E.P. et al. Am. J. Hum. Genet. 82:188-193(2008) · UniProtKB (1) · Mapped (11) |
| The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Lenski C., Kooy R.F., Reyniers E., Loessner D., Wanders R.J.A., Winnepenninckx B., Hellebrand H., Engert S., Schwartz C.E., Meindl A. et al. Am. J. Hum. Genet. 80:372-377(2007) · UniProtKB (1) · Mapped (2) |
| 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) |
| A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Ramser J., Abidi F.E., Burckle C.A., Lenski C., Toriello H., Wen G., Lubs H.A., Engert S., Stevenson R.E., Meindl A. et al. Hum. Mol. Genet. 14:1019-1027(2005) · UniProtKB (1) · Mapped (6) |
| A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). Ramser J., Winnepenninckx B., Lenski C., Errijgers V., Platzer M., Schwartz C.E., Meindl A., Kooy R.F. J. Med. Genet. 41:679-683(2004) · Mapped (3) |
| Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Lenski C., Abidi F., Meindl A., Gibson A., Platzer M., Frank Kooy R., Lubs H.A., Stevenson R.E., Ramser J., Schwartz C.E. Am. J. Hum. Genet. 74:777-780(2004) · Mapped (2) |
| Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4. Demirci F.Y., Ramser J., White N.J., Rigatti B.W., Meindl A., Lewis K.F., Wen G., Gorin M.B. DNA Seq. 14:123-127(2003) · Mapped (2) |
| Honeybee (Apis mellifera L.) mrjp gene family: computational analysis of putative promoters and genomic structure of mrjp1, the gene coding for the most abundant protein of larval food. Malecova B., Ramser J., O'Brien J.K., Janitz M., Judova J., Lehrach H., Simuth J. Gene 303:165-175(2003) · UniProtKB (4) |
| An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders. Thiselton D.L., McDowall J., Brandau O., Ramser J., d'Esposito F., Bhattacharya S.S., Ross M.T., Hardcastle A.J., Meindl A. |
| X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Demirci F.Y.K., Rigatti B.W., Wen G., Radak A.L., Mah T.S., Baic C.L., Traboulsi E.I., Alitalo T., Ramser J., Gorin M.B. Am. J. Hum. Genet. 70:1049-1053(2002) · UniProtKB (1) · Mapped (4) |
| 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) |
| DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. Kirschner R., Erturk D., Zeitz C., Sahin S., Ramser J., Cremers F.P.M., Ropers H.-H., Berger W. |
| The DNA sequence of human chromosome 21. Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K. et al. Nature 405:311-319(2000) · UniProtKB (510) |
| Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. Slavov D., Hattori M., Sakaki Y., Rosenthal A., Shimizu N., Minoshima S., Kudoh J., Yaspo M.-L., Ramser J., Reinhardt R. et al. Gene 247:215-232(2000) · UniProtKB (5) |
| 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) |
