Hennies HC - Search Results

1

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.

Gruber R, Rainer G, Weiss A, Udvardi A, Thiele H, Eckl KM, Schupart R, Nürnberg P, Zschocke J, Schmuth M, Volc-Platzer B, Hennies HC. Gruber R, et al. Among authors: hennies hc. Br J Dermatol. 2017 Apr;176(4):1068-1073. doi: 10.1111/bjd.14860. Epub 2017 Jan 17. Br J Dermatol. 2017. PMID: 27449533 Free article.

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

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.

4

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.

5

HID and KID syndromes are associated with the same connexin 26 mutation.

van Geel M, van Steensel MA, Küster W, Hennies HC, Happle R, Steijlen PM, König A. van Geel M, et al. Among authors: hennies hc. Br J Dermatol. 2002 Jun;146(6):938-42. doi: 10.1046/j.1365-2133.2002.04893.x. Br J Dermatol. 2002. PMID: 12072059

6

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

7

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.

8

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC. zur Stadt U, et al. Among authors: hennies hc. Hum Mol Genet. 2005 Mar 15;14(6):827-34. doi: 10.1093/hmg/ddi076. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703195

9

Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies.

Pichler R, Stelzer C, Berg J, Holzinger C, Eckl KM, Hennies HC, Auböck J. Pichler R, et al. Among authors: hennies hc. Arch Dermatol Res. 2005 Jun;296(12):585-7. doi: 10.1007/s00403-005-0566-8. Epub 2005 May 5. Arch Dermatol Res. 2005. PMID: 15875205

10

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Eckl KM, et al. Among authors: hennies hc. Hum Mutat. 2005 Oct;26(4):351-61. doi: 10.1002/humu.20236. Hum Mutat. 2005. PMID: 16116617

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