Zimmer AD - Search Results

1

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. Among authors: zimmer ad. Hum Mutat. 2018 Oct;39(10):1305-1313. doi: 10.1002/humu.23594. Epub 2018 Aug 7. Hum Mutat. 2018. PMID: 30011118

2

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. 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.

3

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

4

Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris.

Has C, Schwieger-Briel A, Schlipf N, Hausser I, Chmel N, Rösler B, Technau K, Jakob T, Zimmer A, Fischer J. Has C, et al. Acta Derm Venereol. 2016 Nov 2;96(7):989-990. doi: 10.2340/00015555-2446. Acta Derm Venereol. 2016. PMID: 27140437 Free article. No abstract available.

5

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.

Kirchmeier P, Zimmer A, Bouadjar B, Rösler B, Fischer J. Kirchmeier P, et al. Acta Derm Venereol. 2017 Jan 4;97(1):102-104. doi: 10.2340/00015555-2510. Acta Derm Venereol. 2017. PMID: 27494380 Free article. No abstract available.

6

Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

Rauschendorf MA, Jost M, Stock F, Zimmer A, Rösler B, Rijntjes M, Piroth T, Coenen VA, Reinacher PC, Meyer PT, Frings L, Weiller C, Fischer J, Klebe S. Rauschendorf MA, et al. Mov Disord. 2017 Mar;32(3):478-480. doi: 10.1002/mds.26876. Epub 2016 Nov 21. Mov Disord. 2017. PMID: 27869329 No abstract available.

7

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. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717

8

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J. Heinz L, et al. Among authors: zimmer ad. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007. Am J Hum Genet. 2017. PMID: 28575648 Free PMC article.

9

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. Among authors: zimmer ad. 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.

10

The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.

Has C, Küsel J, Reimer A, Hoffmann J, Schauer F, Zimmer A, Fischer J. Has C, et al. Acta Derm Venereol. 2018 Apr 16;98(4):437-440. doi: 10.2340/00015555-2863. Acta Derm Venereol. 2018. PMID: 29242947 Free article.

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