Schmidt HH - Search Results

1

Mutations in the LMNA gene encoding lamin A/C.

Genschel J, Schmidt HH. Genschel J, et al. Among authors: schmidt hh. Hum Mutat. 2000 Dec;16(6):451-9. doi: 10.1002/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9. Hum Mutat. 2000. PMID: 11102973 Review.

2

[Mutations of the lamin A/C gene causing familial partial lipodystrophy: significance for the development of hyperlipidemia and insulin resistant diabetes mellitus].

Genschel J, Lochs H, Schmidt HH. Genschel J, et al. Among authors: schmidt hh. Z Gastroenterol. 2000 Apr;38(4):341-3. Z Gastroenterol. 2000. PMID: 10820868 German. No abstract available.

3

A new frameshift mutation at codon 466 (1397delA) within the LMNA gene.

Genschel J, Baier P, Kuepferling S, Proepsting MJ, Buettner C, Ewert R, Hetzer R, Lochs H, Schmidt HH. Genschel J, et al. Among authors: schmidt hh. Hum Mutat. 2000 Sep;16(3):278. Hum Mutat. 2000. PMID: 10980552 No abstract available.

4

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: schmidt hh. Hum Mutat. 2000 Sep;16(3):278. Hum Mutat. 2000. PMID: 10980554 No abstract available.

5

Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.

Genschel J, Thomas HP, Kassner U, Lochs H, Steinhagen-Thiessen E, Schmidt HH. Genschel J, et al. Among authors: schmidt hh. Hum Mutat. 2001 Apr;17(4):354. doi: 10.1002/humu.44. Hum Mutat. 2001. PMID: 11295843 No abstract available.

6

Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.

Schmidt HH, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge UJ, Pröpsting M, Büttner C, Manns MP, Lochs H, Brabant G. Schmidt HH, et al. Among authors: schmidt m. J Clin Endocrinol Metab. 2001 May;86(5):2289-95. doi: 10.1210/jcem.86.5.7500. J Clin Endocrinol Metab. 2001. PMID: 11344241

7

Apolipoprotein A-I induced amyloidosis.

Genschel J, Haas R, Pröpsting MJ, Schmidt HH. Genschel J, et al. Among authors: schmidt hh. FEBS Lett. 1998 Jul 3;430(3):145-9. doi: 10.1016/s0014-5793(98)00668-1. FEBS Lett. 1998. PMID: 9688527 Free article.

8

Inhibition of transthyretin-met30 expression using Inosine(15.1)-Hammerhead ribozymes in cell culture.

Pröpsting MJ, Kubicka S, Genschel J, Manns MP, Lochs H, Schmidt HH. Pröpsting MJ, et al. Among authors: schmidt hh. Biochem Biophys Res Commun. 2000 Dec 29;279(3):970-3. doi: 10.1006/bbrc.2000.4048. Biochem Biophys Res Commun. 2000. PMID: 11162459

9

Inosine(15.1) hammerhead ribozymes for targeting the transthyretin-30 mutation.

Pröpsting MJ, Blaschke M, Haas RE, Genschel J, Hedrich HJ, Manns MP, Schmidt HH. Pröpsting MJ, et al. Among authors: schmidt hh. Biochem Biophys Res Commun. 1999 Jul 5;260(2):313-7. doi: 10.1006/bbrc.1999.0906. Biochem Biophys Res Commun. 1999. PMID: 10403767

10

[HDL metabolism].

Genschel J, Schmidt HH. Genschel J, et al. Among authors: schmidt hh. Z Gastroenterol. 2001 Apr;39(4):321-7. doi: 10.1055/s-2001-12871. Z Gastroenterol. 2001. PMID: 11367981 Review. German.

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