Chang BS - Search Results

1

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. Shen J, et al. Among authors: chang bs. Nat Genet. 2010 Mar;42(3):245-9. doi: 10.1038/ng.526. Epub 2010 Jan 31. Nat Genet. 2010. PMID: 20118933 Free PMC article.

2

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.

Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA. Hill AD, et al. Among authors: chang bs. Am J Med Genet A. 2007 Aug 1;143A(15):1692-8. doi: 10.1002/ajmg.a.31776. Am J Med Genet A. 2007. PMID: 17603806

3

Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.

Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA. Chang BS, et al. Neurology. 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. Neurology. 2004. PMID: 15159468 Review.

4

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

Mellado C, Poduri A, Gleason D, Elhosary PC, Barry BJ, Partlow JN, Chang BS, Shaw GM, Barkovich AJ, Walsh CA. Mellado C, et al. Among authors: chang bs. Am J Med Genet A. 2010 Nov;152A(11):2736-42. doi: 10.1002/ajmg.a.33684. Am J Med Genet A. 2010. PMID: 20949537 Free PMC article.

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. Ann Neurol. 2003 May;53(5):596-606. doi: 10.1002/ana.10520. Ann Neurol. 2003. PMID: 12730993

6

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA. Currier SC, et al. Among authors: chang bs. Am J Med Genet A. 2005 Feb 15;133A(1):53-7. doi: 10.1002/ajmg.a.30487. Am J Med Genet A. 2005. PMID: 15637732

7

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: chang bs. 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

8

Comprehensive EMX2 genotyping of a large schizencephaly case series.

Tietjen I, Bodell A, Apse K, Mendonza AM, Chang BS, Shaw GM, Barkovich AJ, Lammer EJ, Walsh CA. Tietjen I, et al. Among authors: chang bs. Am J Med Genet A. 2007 Jun 15;143A(12):1313-6. doi: 10.1002/ajmg.a.31767. Am J Med Genet A. 2007. PMID: 17506092

9

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.

Chen MH, Choudhury S, Hirata M, Khalsa S, Chang B, Walsh CA. Chen MH, et al. Am J Med Genet A. 2018 Feb;176(2):337-350. doi: 10.1002/ajmg.a.38580. Am J Med Genet A. 2018. PMID: 29334594 Free PMC article.

10

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.

Chang BS, Apse KA, Caraballo R, Cross JH, Mclellan A, Jacobson RD, Valente KD, Barkovich AJ, Walsh CA. Chang BS, et al. Neurology. 2006 Jan 10;66(1):133-5. doi: 10.1212/01.wnl.0000191393.06679.e9. Neurology. 2006. PMID: 16401865

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