Fischer J - Search Results

1

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.

Jägle S, Juratli HA, Hickman G, Süssmuth K, Boente MC, Kopp J, Kirchmeier P, Zimmer A, Happle R, Bourrat E, Hamm H, Fischer J. Jägle S, et al. Among authors: fischer j. Acta Derm Venereol. 2021 Feb 16;101(2):adv00397. doi: 10.2340/00015555-3753. Acta Derm Venereol. 2021. PMID: 33491095 Free PMC article.

2

Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.

Bourrat E, Blanchet-Bardon C, Derbois C, Cure S, Fischer J. Bourrat E, et al. Among authors: fischer j. Arch Dermatol. 2012 Oct;148(10):1191-5. doi: 10.1001/archdermatol.2012.1947. Arch Dermatol. 2012. PMID: 22801880

3

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. Radner FP, et al. Among authors: fischer j. PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6. PLoS Genet. 2013. PMID: 23754960 Free PMC article.

4

Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome.

Kirchmeier P, Sayar E, Hotz A, Hausser I, Islek A, Yilmaz A, Artan R, Fischer J. Kirchmeier P, et al. Among authors: fischer j. Br J Dermatol. 2014 Apr;170(4):976-8. doi: 10.1111/bjd.12724. Br J Dermatol. 2014. PMID: 24641442 No abstract available.

5

White sponge nevus - a rare autosomal dominant keratinopathy.

Benoit S, Schlipf N, Hausser I, Fischer J, Hamm H. Benoit S, et al. Among authors: fischer j. Klin Padiatr. 2014 Nov;226(6-7):375-6. doi: 10.1055/s-0034-1371843. Epub 2014 May 8. Klin Padiatr. 2014. PMID: 24810752 No abstract available.

6

Two novel mutations in the LOR gene in three families with loricrin keratoderma.

Hotz A, Bourrat E, Hausser I, Haftek M, da Silva MV, Fischer J. Hotz A, et al. Among authors: fischer j. Br J Dermatol. 2015 Apr;172(4):1158-62. doi: 10.1111/bjd.13414. Epub 2015 Mar 9. Br J Dermatol. 2015. PMID: 25234742 No abstract available.

7

Large deletions in the NSDHL gene in two patients with CHILD syndrome.

Yang Z, Hartmann B, Xu Z, Ma L, Happle R, Schlipf N, Zhang LX, Xu ZG, Wang ZY, Fischer J. Yang Z, et al. Among authors: fischer j. Acta Derm Venereol. 2015 Nov;95(8):1007-8. doi: 10.2340/00015555-2143. Acta Derm Venereol. 2015. PMID: 26014843 Free article. No abstract available.

8

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.

Schlipf NA, Vahlquist A, Teigen N, Virtanen M, Dragomir A, Fismen S, Barenboim M, Manke T, Rösler B, Zimmer A, Fischer J. Schlipf NA, et al. Among authors: fischer j. Br J Dermatol. 2016 Feb;174(2):444-8. doi: 10.1111/bjd.14079. Epub 2015 Nov 19. Br J Dermatol. 2016. PMID: 26288349 No abstract available.

9

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J. Hotz A, et al. Among authors: fischer j. Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299. Acta Derm Venereol. 2016. PMID: 26581228 Free article.

10

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Pigg MH, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A, Vahlquist A, Fischer J. Pigg MH, et al. Among authors: fischer j. Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418. Acta Derm Venereol. 2016. PMID: 27025581 Free article.

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