Huber M - Search Results

1

Mutations in the gene encoding SLURP-1 in Mal de Meleda.

Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF. Fischer J, et al. Among authors: huber m. Hum Mol Genet. 2001 Apr 1;10(8):875-80. doi: 10.1093/hmg/10.8.875. Hum Mol Genet. 2001. PMID: 11285253

2

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.

Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, Huber M, Hohl D, Roop DR. Rothnagel JA, et al. Among authors: huber m. Hum Mol Genet. 1993 Dec;2(12):2147-50. doi: 10.1093/hmg/2.12.2147. Hum Mol Genet. 1993. PMID: 7509230

3

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.

Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR. Rothnagel JA, et al. Among authors: huber m. Nat Genet. 1994 Aug;7(4):485-90. doi: 10.1038/ng0894-485. Nat Genet. 1994. PMID: 7524919

4

Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

Rothnagel JA, Wojcik S, Liefer KM, Dominey AM, Huber M, Hohl D, Roop DR. Rothnagel JA, et al. Among authors: huber m. J Invest Dermatol. 1995 Mar;104(3):430-3. doi: 10.1111/1523-1747.ep12666018. J Invest Dermatol. 1995. PMID: 7532199 Free article.

5

Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D. Huber M, et al. Science. 1995 Jan 27;267(5197):525-8. doi: 10.1126/science.7824952. Science. 1995. PMID: 7824952

6

Specificity of B.C1 for TGK after renaturation prior to transfer of proteins.

Hohl D, Rettler I, Huber M. Hohl D, et al. Among authors: huber m. J Invest Dermatol. 1996 Apr;106(4):801-3. doi: 10.1111/1523-1747.ep12346460. J Invest Dermatol. 1996. PMID: 8618028 Free article. No abstract available.

7

Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity.

Petit E, Huber M, Rochat A, Bodemer C, Teillac-Hamel D, Müh JP, Revuz J, Barrandon Y, Lathrop M, de Prost Y, Hohl D, Hovnanian A. Petit E, et al. Among authors: huber m. Eur J Hum Genet. 1997 Jul-Aug;5(4):218-28. Eur J Hum Genet. 1997. PMID: 9359043

8

In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study.

Hohl D, Aeschlimann D, Huber M. Hohl D, et al. Among authors: huber m. J Invest Dermatol. 1998 Mar;110(3):268-71. doi: 10.1046/j.1523-1747.1998.00132.x. J Invest Dermatol. 1998. PMID: 9506447 Free article.

9

An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.

Arin MJ, Longley MA, Küster W, Huber M, Hohl D, Rothnagel JA, Roop DR. Arin MJ, et al. Among authors: huber m. Exp Dermatol. 1999 Apr;8(2):124-7. doi: 10.1111/j.1600-0625.1999.tb00359.x. Exp Dermatol. 1999. PMID: 10232403

10

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.

Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim CA, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K. Struk B, et al. Among authors: huber m. J Mol Med (Berl). 2000;78(5):282-6. doi: 10.1007/s001090000114. J Mol Med (Berl). 2000. PMID: 10954200

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