Hotz A - Search Results

1

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Hotz A, et al. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.

2

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. 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.

3

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. Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299. Acta Derm Venereol. 2016. PMID: 26581228 Free article.

4

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: hotz a. 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.

5

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: hotz a. Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418. Acta Derm Venereol. 2016. PMID: 27025581 Free article.

6

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.

Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Among authors: hotz a. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717

7

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.

Hotz A, Fagerberg C, Vahlquist A, Bygum A, Törmä H, Rauschendorf MA, Zhang H, Heinz L, Bourrat E, Hausser I, Vestergaard V, Dragomir A, Zimmer AD, Fischer J. Hotz A, et al. Br J Dermatol. 2018 Mar;178(3):e207-e209. doi: 10.1111/bjd.15994. Epub 2018 Jan 21. Br J Dermatol. 2018. PMID: 28906551 No abstract available.

8

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hotz A, Bourrat E, Küsel J, Oji V, Alter S, Hake L, Korbi M, Ott H, Hausser I, Zimmer AD, Fischer J. Hotz A, et al. Hum Mutat. 2018 Oct;39(10):1305-1313. doi: 10.1002/humu.23594. Epub 2018 Aug 7. Hum Mutat. 2018. PMID: 30011118

9

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

Heinz L, Bourrat E, Vabres P, Thevenon J, Hotz A, Hörer S, Küsel J, Zimmer AD, Alter S, Happle R, Fischer J. Heinz L, et al. Among authors: hotz a. Br J Dermatol. 2019 Mar;180(3):657-661. doi: 10.1111/bjd.17024. Epub 2018 Sep 30. Br J Dermatol. 2019. PMID: 30022487

10

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A. Alter S, et al. Among authors: hotz a. Am J Med Genet A. 2018 Dec;176(12):2862-2866. doi: 10.1002/ajmg.a.40634. Epub 2018 Dec 18. Am J Med Genet A. 2018. PMID: 30561130 Review.

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