Ledbetter DH - Search Results

1

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: ledbetter dh. Hum Mol Genet. 2000 Dec 12;9(20):3019-28. doi: 10.1093/hmg/9.20.3019. Hum Mol Genet. 2000. PMID: 11115846

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

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Ledbetter SA, et al. Among authors: ledbetter dh. Am J Hum Genet. 1992 Jan;50(1):182-9. Am J Hum Genet. 1992. PMID: 1346078 Free PMC article.

5

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

6

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

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

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

9

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

10

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. Christian SL, et al. Among authors: ledbetter dh. Hum Mol Genet. 1999 Jun;8(6):1025-37. doi: 10.1093/hmg/8.6.1025. Hum Mol Genet. 1999. PMID: 10332034

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