Pilz DT - Search Results

1

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Cardoso C, et al. Among authors: pilz dt. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5. Am J Hum Genet. 2003. PMID: 12621583 Free PMC article.

2

Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.

Pilz DT, Dalton A, Long A, Jaspan T, Maltby EL, Quarrell OW. Pilz DT, et al. J Med Genet. 1995 Apr;32(4):275-8. doi: 10.1136/jmg.32.4.275. J Med Genet. 1995. PMID: 7643355 Free PMC article.

3

Syndromes with lissencephaly.

Pilz DT, Quarrell OW. Pilz DT, et al. J Med Genet. 1996 Apr;33(4):319-23. doi: 10.1136/jmg.33.4.319. J Med Genet. 1996. PMID: 8730288 Free PMC article. Review. No abstract available.

4

Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

Matsumoto N, Pilz DT, Fantes JA, Kittikamron K, Ledbetter DH. Matsumoto N, et al. Among authors: pilz dt. J Med Genet. 1998 Oct;35(10):829-32. doi: 10.1136/jmg.35.10.829. J Med Genet. 1998. PMID: 9783706 Free PMC article.

5

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. Pilz DT, et al. Hum Mol Genet. 1998 Dec;7(13):2029-37. doi: 10.1093/hmg/7.13.2029. Hum Mol Genet. 1998. PMID: 9817918

6

Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS).

Matsumoto N, Pilz DT, Ledbetter DH. Matsumoto N, et al. Among authors: pilz dt. Genomics. 1999 Mar 1;56(2):179-83. doi: 10.1006/geno.1998.5673. Genomics. 1999. PMID: 10051403

7

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.

Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Dobyns WB, et al. Among authors: pilz dt. Neurology. 1999 Jul 22;53(2):270-7. doi: 10.1212/wnl.53.2.270. Neurology. 1999. PMID: 10430413

8

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH. Pilz DT, et al. Hum Mol Genet. 1999 Sep;8(9):1757-60. doi: 10.1093/hmg/8.9.1757. Hum Mol Genet. 1999. PMID: 10441340

9

Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.

Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB. Leventer RJ, et al. Among authors: pilz dt. Mol Med Today. 2000 Jul;6(7):277-84. doi: 10.1016/s1357-4310(00)01730-5. Mol Med Today. 2000. PMID: 10859564 Review.

10

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Among authors: pilz dt. Hum Mol Genet. 2000 Dec 12;9(20):3019-28. doi: 10.1093/hmg/9.20.3019. Hum Mol Genet. 2000. PMID: 11115846

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