Dobyns WB - Search Results

1

Expanding the KIF4A-associated phenotype.

Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: dobyns wb. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 Free PMC article.

2

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Schimmenti LA, et al. Among authors: dobyns wb. Am J Med Genet. 1995 Nov 6;59(2):204-8. doi: 10.1002/ajmg.1320590217. Am J Med Genet. 1995. PMID: 8588587

3

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.

Fink JM, Dobyns WB, Guerrini R, Hirsch BA. Fink JM, et al. Among authors: dobyns wb. Am J Hum Genet. 1997 Aug;61(2):379-87. doi: 10.1086/514863. Am J Hum Genet. 1997. PMID: 9311743 Free PMC article.

4

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

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

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

Satran D, Pierpont ME, Dobyns WB. Satran D, et al. Among authors: dobyns wb. Am J Med Genet. 1999 Oct 29;86(5):459-69. Am J Med Genet. 1999. PMID: 10508989 Review.

7

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.

8

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. Among authors: dobyns wb. Eur J Hum Genet. 2001 Jan;9(1):5-12. doi: 10.1038/sj.ejhg.5200548. Eur J Hum Genet. 2001. PMID: 11175293

9

X-linked malformations of cortical development.

Leventer RJ, Mills PL, Dobyns WB. Leventer RJ, et al. Among authors: dobyns wb. Am J Med Genet. 2000 Fall;97(3):213-20. doi: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W. Am J Med Genet. 2000. PMID: 11449490 Review.

10

Lissencephaly and the molecular basis of neuronal migration.

Kato M, Dobyns WB. Kato M, et al. Among authors: dobyns wb. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R89-96. doi: 10.1093/hmg/ddg086. Hum Mol Genet. 2003. PMID: 12668601 Review.

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