Meindl A - Search Results

1

Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus.

Wen G, Ramser J, Taudien S, Gausmann U, Blechschmidt K, Frankish A, Ashurst J, Meindl A, Platzer M. Wen G, et al. Among authors: meindl a. Mamm Genome. 2005 Dec;16(12):934-41. doi: 10.1007/s00335-005-0090-3. Epub 2005 Dec 8. Mamm Genome. 2005. PMID: 16341673

2

Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4.

Demirci FY, Ramser J, White NJ, Rigatti BW, Meindl A, Lewis KF, Wen G, Gorin MB. Demirci FY, et al. Among authors: meindl a. DNA Seq. 2003 Apr;14(2):123-7. doi: 10.1080/1042517021000056952. DNA Seq. 2003. PMID: 12825353

3

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.

Thiselton DL, McDowall J, Brandau O, Ramser J, d'Esposito F, Bhattacharya SS, Ross MT, Hardcastle AJ, Meindl A. Thiselton DL, et al. Among authors: meindl a. Genomics. 2002 Apr;79(4):560-72. doi: 10.1006/geno.2002.6733. Genomics. 2002. PMID: 11944989

4

The DNA sequence of the human X chromosome.

Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Eme… See abstract for full author list ➔ Ross MT, et al. Among authors: meindl a. Nature. 2005 Mar 17;434(7031):325-37. doi: 10.1038/nature03440. Nature. 2005. PMID: 15772651 Free PMC article.

5

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 CE, Meindl A, Kooy RF. Ramser J, et al. Among authors: meindl a. J Med Genet. 2004 Sep;41(9):679-83. doi: 10.1136/jmg.2004.019000. J Med Genet. 2004. PMID: 15342698 Free PMC article.

6

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 FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G. Ramser J, et al. Among authors: meindl a. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3. Hum Mol Genet. 2005. PMID: 15746149

7

Identification of brain- and bone-specific breast cancer metastasis genes.

Klein A, Olendrowitz C, Schmutzler R, Hampl J, Schlag PM, Maass N, Arnold N, Wessel R, Ramser J, Meindl A, Scherneck S, Seitz S. Klein A, et al. Among authors: meindl a. Cancer Lett. 2009 Apr 18;276(2):212-20. doi: 10.1016/j.canlet.2008.11.017. Epub 2008 Dec 27. Cancer Lett. 2009. PMID: 19114293

8

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.

Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. Lenski C, et al. Among authors: meindl a. Am J Hum Genet. 2007 Feb;80(2):372-7. doi: 10.1086/511527. Epub 2006 Dec 28. Am J Hum Genet. 2007. PMID: 17236142 Free PMC article.

9

Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.

Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B. Pusch CM, et al. Among authors: meindl a. Int J Mol Med. 2001 Feb;7(2):155-61. doi: 10.3892/ijmm.7.2.155. Int J Mol Med. 2001. PMID: 11172618

10

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Ramser J, et al. Among authors: meindl a. Am J Hum Genet. 2008 Jan;82(1):188-93. doi: 10.1016/j.ajhg.2007.09.009. Am J Hum Genet. 2008. PMID: 18179898 Free PMC article.

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