Hohl D - Search Results

1

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: hohl d. J Mol Med (Berl). 2000;78(5):282-6. doi: 10.1007/s001090000114. J Mol Med (Berl). 2000. PMID: 10954200

2

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

Hohl D, Aeschlimann D, Huber M. Hohl D, et al. 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.

3

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.

Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang HL, Dho SH, Xu X, Ringpfeil F, Nancarrow J, Zäch S, Schaen L, Stumm M, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R. Cai L, et al. Among authors: hohl d. J Mol Med (Berl). 2000;78(1):36-46. doi: 10.1007/s001090000079. J Mol Med (Berl). 2000. PMID: 10759028

4

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

Cai L, Lumsden A, Guenther UP, Neldner SA, Zäch S, Knoblauch H, Ramesar R, Hohl D, Callen DF, Neldner KH, Lindpaintner K, Richards RI, Struk B. Cai L, et al. Among authors: hohl d. J Mol Med (Berl). 2001 Sep;79(9):536-46. doi: 10.1007/s001090100275. J Mol Med (Berl). 2001. PMID: 11692167

5

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zäch S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B. Miksch S, et al. Among authors: hohl d. Hum Mutat. 2005 Sep;26(3):235-48. doi: 10.1002/humu.20206. Hum Mutat. 2005. PMID: 16086317

6

Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data.

Christen-Zäch S, Huber M, Struk B, Lindpaintner K, Munier F, Panizzon RG, Hohl D. Christen-Zäch S, et al. Among authors: hohl d. Br J Dermatol. 2006 Jul;155(1):89-93. doi: 10.1111/j.1365-2133.2006.07278.x. Br J Dermatol. 2006. PMID: 16792757 Free article.

7

[The ichthyoses. Pathophysiological models of epidermal differentiation].

Hohl D, Huber M. Hohl D, et al. Hautarzt. 2013 Jan;64(1):12-21. doi: 10.1007/s00105-012-2407-y. Hautarzt. 2013. PMID: 23337961 German.

8

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: hohl d. Hum Mol Genet. 1993 Dec;2(12):2147-50. doi: 10.1093/hmg/2.12.2147. Hum Mol Genet. 1993. PMID: 7509230

9

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: hohl d. Nat Genet. 1994 Aug;7(4):485-90. doi: 10.1038/ng0894-485. Nat Genet. 1994. PMID: 7524919

10

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: hohl d. J Invest Dermatol. 1995 Mar;104(3):430-3. doi: 10.1111/1523-1747.ep12666018. J Invest Dermatol. 1995. PMID: 7532199 Free article.

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