Walsh CA - Search Results

1

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Evrony GD, et al. Among authors: walsh ca. Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19. Genome Res. 2017. PMID: 28630177 Free PMC article.

2

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

3

Callosal agenesis with cyst: a better understanding and new classification.

Barkovich AJ, Simon EM, Walsh CA. Barkovich AJ, et al. Among authors: walsh ca. Neurology. 2001 Jan 23;56(2):220-7. doi: 10.1212/wnl.56.2.220. Neurology. 2001. PMID: 11160959

4

Molecular genetics of human microcephaly.

Mochida GH, Walsh CA. Mochida GH, et al. Among authors: walsh ca. Curr Opin Neurol. 2001 Apr;14(2):151-6. doi: 10.1097/00019052-200104000-00003. Curr Opin Neurol. 2001. PMID: 11262728 Review.

5

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. Chang BS, et al. Among authors: walsh ca. Ann Neurol. 2003 May;53(5):596-606. doi: 10.1002/ana.10520. Ann Neurol. 2003. PMID: 12730993

6

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.

Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. Sheen VL, et al. Among authors: walsh ca. Nat Genet. 2004 Jan;36(1):69-76. doi: 10.1038/ng1276. Epub 2003 Nov 30. Nat Genet. 2004. PMID: 14647276

7

G protein-coupled receptor-dependent development of human frontal cortex.

Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA. Piao X, et al. Among authors: walsh ca. Science. 2004 Mar 26;303(5666):2033-6. doi: 10.1126/science.1092780. Science. 2004. PMID: 15044805

8

Genetic basis of developmental malformations of the cerebral cortex.

Mochida GH, Walsh CA. Mochida GH, et al. Among authors: walsh ca. Arch Neurol. 2004 May;61(5):637-40. doi: 10.1001/archneur.61.5.637. Arch Neurol. 2004. PMID: 15148137 Review.

9

Broader geographical spectrum of Cohen syndrome due to COH1 mutations.

Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA. Mochida GH, et al. Among authors: walsh ca. J Med Genet. 2004 Jun;41(6):e87. doi: 10.1136/jmg.2003.014779. J Med Genet. 2004. PMID: 15173253 Free PMC article. No abstract available.

10

EMX2-independent familial schizencephaly: clinical and genetic analyses.

Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, Lee CK, Walsh CA. Tietjen I, et al. Among authors: walsh ca. Am J Med Genet A. 2005 Jun 1;135(2):166-70. doi: 10.1002/ajmg.a.30734. Am J Med Genet A. 2005. PMID: 15887302

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