Basel-Vanagaite L - Search Results

1

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.

Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA. Sheen VL, et al. Brain Dev. 2004 Aug;26(5):326-34. doi: 10.1016/j.braindev.2003.09.004. Brain Dev. 2004. PMID: 15165674

2

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.

Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA. Piao X, et al. Am J Hum Genet. 2002 Apr;70(4):1028-33. doi: 10.1086/339552. Epub 2002 Feb 13. Am J Hum Genet. 2002. PMID: 11845408 Free PMC article.

3

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

4

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA. Mochida GH, et al. Am J Hum Genet. 2009 Dec;85(6):897-902. doi: 10.1016/j.ajhg.2009.10.027. Am J Hum Genet. 2009. PMID: 20004763 Free PMC article.

5

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. Science. 2004 Mar 26;303(5666):2033-6. doi: 10.1126/science.1092780. Science. 2004. PMID: 15044805

6

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Ann Neurol. 2006 Aug;60(2):214-22. doi: 10.1002/ana.20902. Ann Neurol. 2006. PMID: 16786527

7

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA. Manzini MC, et al. Hum Mutat. 2008 Nov;29(11):E231-41. doi: 10.1002/humu.20844. Hum Mutat. 2008. PMID: 18752264 Free PMC article.

8

Familial cognitive impairment with ataxia with oculomotor apraxia.

Mahajnah M, Basel-Vanagaite L, Inbar D, Kornreich L, Weitz R, Straussberg R. Mahajnah M, et al. J Child Neurol. 2005 Jun;20(6):523-5. doi: 10.1177/088307380502000610. J Child Neurol. 2005. PMID: 15996403

9

Infantile bilateral striatal necrosis maps to chromosome 19q.

Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M. Basel-Vanagaite L, et al. Neurology. 2004 Jan 13;62(1):87-90. doi: 10.1212/01.wnl.0000101680.49036.69. Neurology. 2004. PMID: 14718703

10

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

Marom D, Albin A, Schwartz C, Har-Zahav A, Straussberg R, Bartel F, Birk E, Inbar D, Basel-Vanagaite L. Marom D, et al. Am J Med Genet A. 2011 Aug;155A(8):1959-63. doi: 10.1002/ajmg.a.34121. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744492

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