Fischer J - Search Results

1

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

Kopp J, Has C, Hotz A, Grünert SC, Fischer J. Kopp J, et al. Among authors: fischer j. Genes (Basel). 2021 Jul 29;12(8):1164. doi: 10.3390/genes12081164. Genes (Basel). 2021. PMID: 34440338 Free PMC article.

2

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Has C, et al. Among authors: fischer j. Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20. Hum Mutat. 2011. PMID: 21936020 Review.

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

The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function.

Radner FP, Fischer J. Radner FP, et al. Among authors: fischer j. Biochim Biophys Acta. 2014 Mar;1841(3):409-15. doi: 10.1016/j.bbalip.2013.07.013. Epub 2013 Aug 6. Biochim Biophys Acta. 2014. PMID: 23928127 Review.

5

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.

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

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

Kiritsi D, Valari M, Fortugno P, Hausser I, Lykopoulou L, Zambruno G, Fischer J, Bruckner-Tuderman L, Jakob T, Has C. Kiritsi D, et al. Among authors: fischer j. J Allergy Clin Immunol. 2015 Jan;135(1):280-3. doi: 10.1016/j.jaci.2014.09.042. Epub 2014 Nov 11. J Allergy Clin Immunol. 2015. PMID: 25458912 No abstract available.

8

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.

9

CHILD syndrome with minimal limb abnormalities.

Noguera-Morel L, Hernández-Ostiz S, Casas-Fernández L, Hernández-Martín A, Rodríguez-Blanco I, Requena L, Hotz A, Fischer J, Torrelo A. Noguera-Morel L, et al. Among authors: fischer j. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e201-e202. doi: 10.1111/jdv.13526. Epub 2015 Nov 26. J Eur Acad Dermatol Venereol. 2016. PMID: 26611379 No abstract available.

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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