Walz K - Search Results

1

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Goh ES, et al. Among authors: walz k. Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639462

2

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.

Molina J, Carmona-Mora P, Chrast J, Krall PM, Canales CP, Lupski JR, Reymond A, Walz K. Molina J, et al. Among authors: walz k. Hum Mol Genet. 2008 Aug 15;17(16):2486-95. doi: 10.1093/hmg/ddn148. Epub 2008 May 10. Hum Mol Genet. 2008. PMID: 18469339

3

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.

Carmona-Mora P, Encina CA, Canales CP, Cao L, Molina J, Kairath P, Young JI, Walz K. Carmona-Mora P, et al. Among authors: walz k. BMC Mol Biol. 2010 Aug 25;11:63. doi: 10.1186/1471-2199-11-63. BMC Mol Biol. 2010. PMID: 20738874 Free PMC article.

4

Podocyte-specific overexpression of wild type or mutant trpc6 in mice is sufficient to cause glomerular disease.

Krall P, Canales CP, Kairath P, Carmona-Mora P, Molina J, Carpio JD, Ruiz P, Mezzano SA, Li J, Wei C, Reiser J, Young JI, Walz K. Krall P, et al. Among authors: walz k. PLoS One. 2010 Sep 20;5(9):e12859. doi: 10.1371/journal.pone.0012859. PLoS One. 2010. PMID: 20877463 Free PMC article.

5

Copy number variation and susceptibility to complex traits.

Canales CP, Walz K. Canales CP, et al. Among authors: walz k. EMBO Mol Med. 2011 Jan;3(1):1-4. doi: 10.1002/emmm.201000111. Epub 2010 Dec 23. EMBO Mol Med. 2011. PMID: 21204264 Free PMC article.

6

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.

Carmona-Mora P, Canales CP, Cao L, Perez IC, Srivastava AK, Young JI, Walz K. Carmona-Mora P, et al. Among authors: walz k. PLoS One. 2012;7(9):e45155. doi: 10.1371/journal.pone.0045155. Epub 2012 Sep 18. PLoS One. 2012. PMID: 23028815 Free PMC article.

7

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.

Rao NR, Abad C, Perez IC, Srivastava AK, Young JI, Walz K. Rao NR, et al. Among authors: walz k. Biology (Basel). 2017 Apr 27;6(2):25. doi: 10.3390/biology6020025. Biology (Basel). 2017. PMID: 28448442 Free PMC article.

8

Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.

Varon A, Whitt Z, Kalika PM, Potocki L, Barbouth DS, Walz K. Varon A, et al. Among authors: walz k. Am J Med Genet A. 2019 Jul;179(7):1366-1370. doi: 10.1002/ajmg.a.61187. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31066191

9

Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS.

Canales CP, Krall P, Kairath P, Perez IC, Fragoso MA, Carmona-Mora P, Ruiz P, Reiser J, Young JI, Walz K. Canales CP, et al. Among authors: walz k. Br J Med Med Res. 2015;5(10):1198-2012. doi: 10.9734/bjmmr/2015/12493. Epub 2014 Oct 30. Br J Med Med Res. 2015. PMID: 34012910 Free PMC article.

10

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Bi W, et al. Among authors: walz k. Genome Res. 2002 May;12(5):713-28. doi: 10.1101/gr.73702. Genome Res. 2002. PMID: 11997338 Free PMC article.

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