Ledbetter DH - Search Results

1

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. Among authors: ledbetter dh. Hum Mol Genet. 1998 Dec;7(13):2029-37. doi: 10.1093/hmg/7.13.2029. Hum Mol Genet. 1998. PMID: 9817918

2

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Among authors: ledbetter dh. Hum Mutat. 2002 Jan;19(1):4-15. doi: 10.1002/humu.10028. Hum Mutat. 2002. PMID: 11754098 Review.

3

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: ledbetter dh. 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.

4

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH. Chong SS, et al. Among authors: ledbetter dh. Hum Mol Genet. 1997 Feb;6(2):147-55. doi: 10.1093/hmg/6.2.147. Hum Mol Genet. 1997. PMID: 9063734

5

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH. Lo Nigro C, et al. Among authors: ledbetter dh. Hum Mol Genet. 1997 Feb;6(2):157-64. doi: 10.1093/hmg/6.2.157. Hum Mol Genet. 1997. PMID: 9063735

6

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Ross ME, et al. Among authors: ledbetter dh. Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555. Hum Mol Genet. 1997. PMID: 9097958

7

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: ledbetter dh. 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.

8

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: ledbetter dh. Genomics. 1999 Mar 1;56(2):179-83. doi: 10.1006/geno.1998.5673. Genomics. 1999. PMID: 10051403

9

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: ledbetter dh. Neurology. 1999 Jul 22;53(2):270-7. doi: 10.1212/wnl.53.2.270. Neurology. 1999. PMID: 10430413

10

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. Among authors: ledbetter dh. Hum Mol Genet. 1999 Sep;8(9):1757-60. doi: 10.1093/hmg/8.9.1757. Hum Mol Genet. 1999. PMID: 10441340

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