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Items: 32

1.

Echinococcus equinus and Echinococcus granulosus sensu stricto from the United Kingdom: genetic diversity and haplotypic variation.

Boufana B, Lett WS, Lahmar S, Buishi I, Bodell AJ, Varcasia A, Casulli A, Beeching NJ, Campbell F, Terlizzo M, McManus DP, Craig PS.

Int J Parasitol. 2015 Feb;45(2-3):161-6. doi: 10.1016/j.ijpara.2014.10.005. Epub 2014 Dec 3.

PMID:
25479251
2.

Post-encystment/established immunity in cystic echinococcosis: is it really that simple?

Rogan MT, Bodell AJ, Craig PS.

Parasite Immunol. 2015 Jan;37(1):1-9. doi: 10.1111/pim.12149. Review.

3.

A molecular and ecological analysis of the trematode Plagiorchis elegans in the wood mouse Apodemus sylvaticus from a periaquatic ecosystem in the UK.

Boyce K, Hide G, Craig PS, Reynolds C, Hussain M, Bodell AJ, Bradshaw H, Pickles A, Rogan MT.

J Helminthol. 2014 Sep;88(3):310-20. doi: 10.1017/S0022149X13000199. Epub 2013 Apr 19.

PMID:
23597061
4.

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA.

J Child Neurol. 2013 Feb;28(2):198-203. doi: 10.1177/0883073812467850. Epub 2012 Dec 23.

5.

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.

Nat Genet. 2010 Mar;42(3):245-9. doi: 10.1038/ng.526. Epub 2010 Jan 31.

6.

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.

Am J Hum Genet. 2009 Dec;85(6):897-902. doi: 10.1016/j.ajhg.2009.10.027.

7.

Identifying autism loci and genes by tracing recent shared ancestry.

Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA.

Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657. Erratum in: Science. 2010 Dec 24;330(6012):1746.

8.

A structural basis for reading fluency: white matter defects in a genetic brain malformation.

Chang BS, Katzir T, Liu T, Corriveau K, Barzillai M, Apse KA, Bodell A, Hackney D, Alsop D, Wong ST, Walsh CA.

Neurology. 2007 Dec 4;69(23):2146-54. Erratum in: Neurology. 2009 Mar 31;72(13):1192.. Wong, S [corrected to Wong, ST].

PMID:
18056578
9.

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.

Am J Med Genet A. 2007 Aug 1;143A(15):1692-8.

PMID:
17603806
10.

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.

Am J Med Genet A. 2007 Jun 15;143A(12):1313-6.

PMID:
17506092
11.

Levels and distribution of BCNU in GBM tumors following intratumoral injection of DTI-015 (BCNU-ethanol).

Bodell WJ, Bodell AP, Giannini DD.

Neuro Oncol. 2007 Jan;9(1):12-9. Epub 2006 Oct 3.

12.

Periventricular heterotopia with complete agenesis of the corpus callosum : a case report.

Neal J, Raju GP, Bodell A, Apse K, Walsh CA, Sheen VL.

J Neurol. 2006 Oct;253(10):1358-9. Epub 2006 Aug 11. No abstract available.

PMID:
16906346
13.

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

Rajab A, Yoo SY, Abdulgalil A, Kathiri S, Ahmed R, Mochida GH, Bodell A, Barkovich AJ, Walsh CA.

Am J Med Genet A. 2006 Jul 15;140(14):1504-10.

14.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PMID:
16684786
15.

Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.

Masruha MR, Caboclo LO, Carrete H Jr, Cendes IL, Rodrigues MG, Garzon E, Yacubian EM, Sakamoto AC, Sheen V, Harney M, Neal J, Hill RS, Bodell A, Walsh C, Vilanova LC.

Epilepsia. 2006 Jan;47(1):211-4.

16.

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA.

Ann Neurol. 2005 Nov;58(5):680-7.

PMID:
16240336
17.

ASPM mutations identified in patients with primary microcephaly and seizures.

Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA.

J Med Genet. 2005 Sep;42(9):725-9.

18.

Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia.

Chang BS, Ly J, Appignani B, Bodell A, Apse KA, Ravenscroft RS, Sheen VL, Doherty MJ, Hackney DB, O'Connor M, Galaburda AM, Walsh CA.

Neurology. 2005 Mar 8;64(5):799-803.

PMID:
15753412
19.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.

Neurology. 2005 Jan 25;64(2):254-62.

PMID:
15668422
20.

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.

Am J Med Genet A. 2005 Feb 15;133A(1):53-7.

PMID:
15637732
21.

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA.

Nat Genet. 2004 Sep;36(9):1008-13. Epub 2004 Aug 22. Erratum in: Nat Genet. 2004 Oct;36(10):1126.

PMID:
15322546
22.

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.

J Med Genet. 2004 Jun;41(6):e87. No abstract available.

23.

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.

Brain Dev. 2004 Aug;26(5):326-34.

PMID:
15165674
24.

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.

Neurology. 2004 May 25;62(10):1722-8. Review.

PMID:
15159468
25.

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.

Science. 2004 Mar 26;303(5666):2033-6.

26.

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.

Nat Genet. 2004 Jan;36(1):69-76. Epub 2003 Nov 30.

PMID:
14647276
27.

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA.

Neurology. 2003 May 27;60(10):1664-7.

PMID:
12771259
28.

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.

Ann Neurol. 2003 May;53(5):596-606.

PMID:
12730993
29.

Autosomal recessive form of periventricular heterotopia.

Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA.

Neurology. 2003 Apr 8;60(7):1108-12.

PMID:
12682315
30.

Periventricular heterotopia associated with chromosome 5p anomalies.

Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH.

Neurology. 2003 Mar 25;60(6):1033-6.

PMID:
12654978
31.

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR.

Neuron. 1996 Sep;17(3):451-60.

32.

Desbuquois syndrome: clinical, radiographic, and morphologic characterization.

Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL.

Am J Med Genet. 1994 Aug 1;52(1):9-18.

PMID:
7977470

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