Ludwig M - Search Results

1

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Innis JW, et al. Among authors: ludwig m. Hum Mol Genet. 2004 Nov 15;13(22):2841-51. doi: 10.1093/hmg/ddh306. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385446

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 MJ, Bidlingmaier F, Ludwig M. Utsch B, et al. Among authors: ludwig m. Hum Genet. 2002 May;110(5):488-94. doi: 10.1007/s00439-002-0712-8. Epub 2002 Apr 4. Hum Genet. 2002. PMID: 12073020 Review.

3

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.

Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW. Utsch B, et al. Among authors: ludwig m. Am J Med Genet A. 2007 Dec 15;143A(24):3161-8. doi: 10.1002/ajmg.a.31967. Am J Med Genet A. 2007. PMID: 17935235 Free article.

4

Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias.

Utsch B, Kaya A, Ozburun A, Lentze MJ, Albers N, Ludwig M. Utsch B, et al. Among authors: ludwig m. Scand J Urol Nephrol. 2003;37(6):498-501. doi: 10.1080/00365590310014517. Scand J Urol Nephrol. 2003. PMID: 14675924

5

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S. Ludwig M, et al. Hum Genet. 2005 Jul;117(2-3):228-37. doi: 10.1007/s00439-005-1303-2. Epub 2005 May 14. Hum Genet. 2005. PMID: 15895257

6

Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene.

Ludwig M, Utsch B. Ludwig M, et al. Am J Med Genet A. 2004 Aug 1;128A(4):434-5. doi: 10.1002/ajmg.a.30204. Am J Med Genet A. 2004. PMID: 15264294 No abstract available.

7

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Kockum CC, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WF, Marcelis C, Wijers CH, Van Rooij IA, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M. Reutter H, et al. Among authors: ludwig m. Hum Mol Genet. 2014 Oct 15;23(20):5536-44. doi: 10.1093/hmg/ddu259. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852367 Free PMC article.

8

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

Ludwig M, Utsch B, Monnens LA. Ludwig M, et al. Nephrol Dial Transplant. 2006 Oct;21(10):2708-17. doi: 10.1093/ndt/gfl346. Epub 2006 Jul 20. Nephrol Dial Transplant. 2006. PMID: 16861240 Review. No abstract available.

9

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, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B. Ludwig M, et al. Kidney Blood Press Res. 2003;26(3):176-84. doi: 10.1159/000071883. Kidney Blood Press Res. 2003. PMID: 12886045

10

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, Müller M, Dötsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Tröbs RB. Utsch B, et al. Among authors: ludwig m. Am J Med Genet A. 2006 Oct 15;140(20):2251-3. doi: 10.1002/ajmg.a.31454. Am J Med Genet A. 2006. PMID: 16969870 No abstract available.

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