Matsumoto N - 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: matsumoto n. Hum Mol Genet. 2000 Dec 12;9(20):3019-28. doi: 10.1093/hmg/9.20.3019. Hum Mol Genet. 2000. PMID: 11115846

2

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. 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.

3

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: matsumoto n. Hum Mol Genet. 1998 Dec;7(13):2029-37. doi: 10.1093/hmg/7.13.2029. Hum Mol Genet. 1998. PMID: 9817918

4

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

5

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

6

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: matsumoto n. Hum Mol Genet. 1999 Sep;8(9):1757-60. doi: 10.1093/hmg/8.9.1757. Hum Mol Genet. 1999. PMID: 10441340

7

Molecular cloning and characterization of the human NUDC gene.

Matsumoto N, Ledbetter DH. Matsumoto N, et al. Hum Genet. 1999 Jun;104(6):498-504. doi: 10.1007/s004390050994. Hum Genet. 1999. PMID: 10453739

8

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: matsumoto n. Mol Med Today. 2000 Jul;6(7):277-84. doi: 10.1016/s1357-4310(00)01730-5. Mol Med Today. 2000. PMID: 10859564 Review.

9

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Matsumoto N, et al. Eur J Hum Genet. 2001 Jan;9(1):5-12. doi: 10.1038/sj.ejhg.5200548. Eur J Hum Genet. 2001. PMID: 11175293

10

Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome.

Matsumoto N, David DE, Johnson EW, Konecki D, Burmester JK, Ledbetter DH, Weber JL. Matsumoto N, et al. Eur J Hum Genet. 2000 Nov;8(11):875-83. doi: 10.1038/sj.ejhg.5200549. Eur J Hum Genet. 2000. PMID: 11093278

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