Schmuth M - Search Results

1

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.

Sehested A, Meade J, Scheie D, Østrup O, Bertelsen B, Misiakou MA, Sarosiek T, Kessler E, Melchior LC, Munch-Petersen HF, Pai RK, Schmuth M, Gottschling H, Zschocke J, Gallon R, Wimmer K. Sehested A, et al. Among authors: schmuth m. Hum Mutat. 2022 Jan;43(1):85-96. doi: 10.1002/humu.24299. Epub 2021 Dec 2. Hum Mutat. 2022. PMID: 34816535

2

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, Gruber R. Schmuth M, et al. Eur J Hum Genet. 2013 Feb;21(2):123-33. doi: 10.1038/ejhg.2012.121. Epub 2012 Jun 27. Eur J Hum Genet. 2013. PMID: 22739337 Free PMC article. Review.

3

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

Gruber R, Schossig AS, Alnutaifi KA, Martinz V, Blunder S, Zschocke J, Schmuth M, Tinschert S. Gruber R, et al. Among authors: schmuth m. J Dtsch Dermatol Ges. 2013 Oct;11(10):1023-5. doi: 10.1111/ddg.12116. Epub 2013 May 13. J Dtsch Dermatol Ges. 2013. PMID: 23668231 No abstract available.

4

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.

Moosbrugger-Martinz V, Jalili A, Schossig AS, Jahn-Bassler K, Zschocke J, Schmuth M, Stingl G, Eckl KM, Hennies HC, Gruber R. Moosbrugger-Martinz V, et al. Among authors: schmuth m. Br J Dermatol. 2015 Jun;172(6):1628-1632. doi: 10.1111/bjd.13545. Epub 2015 Mar 18. Br J Dermatol. 2015. PMID: 25400170

5

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: schmuth m. 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.

6

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA. Weustenfeld M, et al. Among authors: schmuth m. Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30372562 Free PMC article.

7

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC. Lima Cunha D, et al. Among authors: schmuth m. Mol Genet Genomic Med. 2019 Mar;7(3):e539. doi: 10.1002/mgg3.539. Epub 2019 Jan 1. Mol Genet Genomic Med. 2019. PMID: 30600594 Free PMC article.

8

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

Seidl-Philipp M, Schossig AS, Moosbrugger-Martinz V, Zschocke J, Schmuth M, Gruber R. Seidl-Philipp M, et al. Among authors: schmuth m. J Dtsch Dermatol Ges. 2019 Jul;17(7):742-745. doi: 10.1111/ddg.13843. Epub 2019 Apr 23. J Dtsch Dermatol Ges. 2019. PMID: 31012992 No abstract available.

9

Gestörte Hautbarriere bei zwei österreichischen Schwestern mit autosomal-rezessiver kongenitaler Ichthyose (ARCI) verursacht durch eine Missense-Mutation in SDR9C7.

Seidl-Philipp M, Schossig AS, Moosbrugger-Martinz V, Zschocke J, Schmuth M, Gruber R. Seidl-Philipp M, et al. Among authors: schmuth m. J Dtsch Dermatol Ges. 2019 Jul;17(7):742-745. doi: 10.1111/ddg.13843_g. J Dtsch Dermatol Ges. 2019. PMID: 31364290 No abstract available.

10

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.

Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, Zschocke J, Schmuth M, Gruber R. Seidl-Philipp M, et al. Among authors: schmuth m. J Dtsch Dermatol Ges. 2020 Jan;18(1):17-25. doi: 10.1111/ddg.13968. Epub 2019 Oct 23. J Dtsch Dermatol Ges. 2020. PMID: 31642606

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