Bochow B - Search Results

1

Wilson disease: high prevalence in a mountainous area of Crete.

Dedoussis GV, Genschel J, Sialvera TE, Bochow B, Manolaki N, Manios Y, Tsafantakis E, Schmidt H. Dedoussis GV, et al. Among authors: bochow b. Ann Hum Genet. 2005 May;69(Pt 3):268-74. doi: 10.1046/j.1529-8817.2005.00171.x. Ann Hum Genet. 2005. PMID: 15845031

2

Molecular characterization of familial hypercholesterolemia in German and Greek patients.

Dedoussis GV, Genschel J, Bochow B, Pitsavos C, Skoumas J, Prassa M, Lkhagvasuren S, Toutouzas P, Vogt A, Kassner U, Thomas HP, Schmidt H. Dedoussis GV, et al. Among authors: bochow b. Hum Mutat. 2004 Mar;23(3):285-6. doi: 10.1002/humu.9218. Hum Mutat. 2004. PMID: 14974088

3

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH. Deguti MM, et al. Among authors: bochow b. Hum Mutat. 2004 Apr;23(4):398. doi: 10.1002/humu.9227. Hum Mutat. 2004. PMID: 15024742

4

Neurological manifestations and ATP7B mutations in Wilson's disease.

Machado AA, Deguti MM, Genschel J, Cançado EL, Bochow B, Schmidt H, Barbosa ER. Machado AA, et al. Among authors: bochow b. Parkinsonism Relat Disord. 2008;14(3):246-9. doi: 10.1016/j.parkreldis.2007.08.002. Epub 2007 Sep 25. Parkinsonism Relat Disord. 2008. PMID: 17897870

5

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Abdelghaffar TY, Elsayed SM, Elsobky E, Bochow B, Büttner J, Schmidt H. Abdelghaffar TY, et al. Among authors: bochow b. J Hum Genet. 2008;53(8):681. doi: 10.1007/s10038-008-0298-7. Epub 2008 May 16. J Hum Genet. 2008. PMID: 18483695

6

Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.

Genschel J, Czlonkowska A, Sommer G, Buettner C, Bochow B, Lochs H, Schmidt H. Genschel J, et al. Among authors: bochow b. Hum Mutat. 2001 Feb;17(2):156. doi: 10.1002/1098-1004(200102)17:2<156::AID-HUMU18>3.0.CO;2-0. Hum Mutat. 2001. PMID: 11180609 No abstract available.

7

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A. Gromadzka G, et al. Among authors: bochow b. Clin Genet. 2005 Dec;68(6):524-32. doi: 10.1111/j.1399-0004.2005.00528.x. Clin Genet. 2005. PMID: 16283883

8

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A. Gromadzka G, et al. Among authors: bochow b. Mov Disord. 2006 Feb;21(2):245-8. doi: 10.1002/mds.20671. Mov Disord. 2006. PMID: 16211609

9

Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene.

Genschel J, Sommer G, Haas R, Buettner C, Bochow B, Manns M, Lochs H, Schmidt HH. Genschel J, et al. Among authors: bochow b. Hum Mutat. 2000 Sep;16(3):278. Hum Mutat. 2000. PMID: 10980554 No abstract available.

10

A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

Genschel J, Bochow B, Kuepferling S, Ewert R, Hetzer R, Lochs H, Schmidt H. Genschel J, et al. Among authors: bochow b. Hum Mutat. 2001 Feb;17(2):154. doi: 10.1002/1098-1004(200102)17:2<154::AID-HUMU11>3.0.CO;2-R. Hum Mutat. 2001. PMID: 11180602 No abstract available.

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