Dobyns WB - Search Results

1

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB. Cushion TD, et al. Among authors: dobyns wb. Am J Hum Genet. 2014 Apr 3;94(4):634-41. doi: 10.1016/j.ajhg.2014.03.009. Am J Hum Genet. 2014. PMID: 24702957 Free PMC article.

2

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

Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Ledbetter SA, et al. Among authors: dobyns wb. Am J Hum Genet. 1992 Jan;50(1):182-9. Am J Hum Genet. 1992. PMID: 1346078 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: dobyns wb. Hum Mol Genet. 1998 Dec;7(13):2029-37. doi: 10.1093/hmg/7.13.2029. Hum Mol Genet. 1998. PMID: 9817918

4

Microcephaly with simplified gyral pattern in six related children.

Peiffer A, Singh N, Leppert M, Dobyns WB, Carey JC. Peiffer A, et al. Among authors: dobyns wb. Am J Med Genet. 1999 May 21;84(2):137-44. doi: 10.1002/(sici)1096-8628(19990521)84:2<137::aid-ajmg10>3.0.co;2-j. Am J Med Genet. 1999. PMID: 10323739

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

7

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.

Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. Dobyns WB, et al. Am J Med Genet. 1999 Oct 8;86(4):331-7. Am J Med Genet. 1999. PMID: 10494089 Review.

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: dobyns wb. 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

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

10

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. Ungaro P, et al. Among authors: dobyns wb. J Med Genet. 2001 Jan;38(1):26-34. doi: 10.1136/jmg.38.1.26. J Med Genet. 2001. PMID: 11134237 Free PMC article.

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