Hennies HC - Search Results

1

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V. Hake L, et al. Among authors: hennies hc. J Eur Acad Dermatol Venereol. 2022 Apr;36(4):582-591. doi: 10.1111/jdv.17873. Epub 2022 Jan 13. J Eur Acad Dermatol Venereol. 2022. PMID: 34908195

2

Telomeric refinement of the MCKD1 locus on chromosome 1q21.

Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F. Wolf MT, et al. Among authors: hennies hc. Kidney Int. 2004 Aug;66(2):580-5. doi: 10.1111/j.1523-1755.2004.00799.x. Kidney Int. 2004. PMID: 15253709 Free article.

3

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H. Kalay E, et al. Among authors: hennies hc. Am J Med Genet A. 2007 Oct 15;143A(20):2382-9. doi: 10.1002/ajmg.a.31937. Am J Med Genet A. 2007. PMID: 17853461

4

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F. Otto E, et al. Among authors: hennies hc. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. Am J Hum Genet. 2002. PMID: 12205563 Free PMC article.

5

Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.

Hennies HC, Raghunath M, Wiebe V, Vogel M, Velten F, Traupe H, Reis A. Hennies HC, et al. Hum Genet. 1998 Mar;102(3):314-8. doi: 10.1007/s004390050697. Hum Genet. 1998. PMID: 9544844

6

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.

Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A. Hennies HC, et al. Am J Hum Genet. 1998 May;62(5):1052-61. doi: 10.1086/301818. Am J Hum Genet. 1998. PMID: 9545389 Free PMC article.

7

A novel in situ method for the detection of deficient transglutaminase activity in the skin.

Raghunath M, Hennies HC, Velten F, Wiebe V, Steinert PM, Reis A, Traupe H. Raghunath M, et al. Among authors: hennies hc. Arch Dermatol Res. 1998 Nov;290(11):621-7. doi: 10.1007/s004030050362. Arch Dermatol Res. 1998. PMID: 9860283

8

Genetic and clinical heterogeneity in transgressive palmoplantar keratoderma.

Lestringant GG, Frossard PM, Eckl KM, Reis A, Hennies HC. Lestringant GG, et al. Among authors: hennies hc. J Invest Dermatol. 2001 May;116(5):825-7. doi: 10.1046/j.1523-1747.2001.01346-3.x. J Invest Dermatol. 2001. PMID: 11348480 Free article. No abstract available.

9

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nürnberg P, Reis A, Hennies HC. Eckl KM, et al. Among authors: hennies hc. Hum Genet. 2003 Jan;112(1):50-6. doi: 10.1007/s00439-002-0838-8. Epub 2002 Oct 19. Hum Genet. 2003. PMID: 12483299

10

Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.

Raghunath M, Hennies HC, Ahvazi B, Vogel M, Reis A, Steinert PM, Traupe H. Raghunath M, et al. Among authors: hennies hc. J Invest Dermatol. 2003 Feb;120(2):224-8. doi: 10.1046/j.1523-1747.2003.12032.x. J Invest Dermatol. 2003. PMID: 12542526 Free article.

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