Rösler B - Search Results

1

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: rosler b. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083

2

A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.

Terhal P, Rösler B, Kohlhase J. Terhal P, et al. Among authors: rosler b. Am J Med Genet A. 2006 Feb 1;140(3):222-6. doi: 10.1002/ajmg.a.31060. Am J Med Genet A. 2006. PMID: 16411190

3

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.

Rauschendorf MA, Zimmer AD, Laut A, Demmer P, Rösler B, Happle R, Sartori S, Fischer J. Rauschendorf MA, et al. Among authors: rosler b. Pigment Cell Melanoma Res. 2019 Jan;32(1):85-91. doi: 10.1111/pcmr.12733. Epub 2018 Sep 6. Pigment Cell Melanoma Res. 2019. PMID: 30117279 No abstract available.

4

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. Among authors: rosler b. 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.

5

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.

Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B. Kohlhase J, et al. Among authors: rosler b. Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215. Hum Mutat. 2005. PMID: 16086360

6

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rösler B, Kohlhase J. Botzenhart EM, et al. Among authors: rosler b. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9362. Hum Mutat. 2005. PMID: 16088922

7

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. Among authors: rosler b. 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.

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: rosler b. 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

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. Among authors: rosler b. 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.

10

Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.

Schlipf NA, Traupe H, Gilaberte Y, Peitsch WK, Hausser I, Oji V, Schmieder A, Schneider SW, Demmer P, Rösler B, Fischer J. Schlipf NA, et al. Among authors: rosler b. Br J Dermatol. 2016 May;174(5):1152-6. doi: 10.1111/bjd.14328. Epub 2016 Feb 18. Br J Dermatol. 2016. PMID: 26617416 No abstract available.

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