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Items: 8

1.

PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection.

McEwan DG, Richter B, Claudi B, Wigge C, Wild P, Farhan H, McGourty K, Coxon FP, Franz-Wachtel M, Perdu B, Akutsu M, Habermann A, Kirchof A, Helfrich MH, Odgren PR, Van Hul W, Frangakis AS, Rajalingam K, Macek B, Holden DW, Bumann D, Dikic I.

Cell Host Microbe. 2015 Jan 14;17(1):58-71. doi: 10.1016/j.chom.2014.11.011. Epub 2014 Dec 11.

2.

The neurology of carbonic anhydrase type II deficiency syndrome.

Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK.

Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302. Epub 2011 Nov 26.

PMID:
22120147
3.

[Osteopathia striata with cranial sclerosis].

Barbosa M, Perdu B, Senra V, Macedo F, Van Hul W, Reis-Lima M, Pinto-Basto J.

Acta Med Port. 2010 Nov-Dec;23(6):1147-50. Epub 2010 Dec 28. Portuguese.

4.

Sclerosing bone disorders: too much of a good thing.

Perdu B, Van Hul W.

Crit Rev Eukaryot Gene Expr. 2010;20(3):195-212. Review.

PMID:
21175411
5.

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

Perdu B, Lakeman P, Mortier G, Koenig R, Lachmeijer AM, Van Hul W.

Clin Genet. 2011 Oct;80(4):383-8. doi: 10.1111/j.1399-0004.2010.01553.x. Epub 2010 Oct 18. Review.

PMID:
20950377
6.

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W.

J Bone Miner Res. 2010 Jan;25(1):82-90. doi: 10.1359/jbmr.090707.

7.

Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2.

Perdu B, Odgren PR, Van Wesenbeeck L, Jennes K, Mackay CC, Van Hul W.

Calcif Tissue Int. 2009 May;84(5):355-60. doi: 10.1007/s00223-009-9229-7. Epub 2009 Mar 4.

8.

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.

Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W.

J Clin Invest. 2007 Apr;117(4):919-30.

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