Betz RC - Search Results

1

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Kasparis C, Reid D, Wilson NJ, Okur V, Cole C, Hansen CD, Bosse K, Betz RC, Khan M, Smith FJ. Kasparis C, et al. Among authors: betz rc. Clin Exp Dermatol. 2016 Dec;41(8):884-889. doi: 10.1111/ced.12934. Epub 2016 Oct 27. Clin Exp Dermatol. 2016. PMID: 27786367 Free PMC article. Review.

2

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM. Bosse K, et al. Among authors: betz rc. Am J Hum Genet. 2000 Aug;67(2):492-7. doi: 10.1086/303028. Epub 2000 Jun 30. Am J Hum Genet. 2000. PMID: 10877983 Free PMC article.

3

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay.

Refke M, Pasternack SM, Fiebig B, Wenzel S, Ishorst N, Ludwig M, Nöthen MM, Seyger MM, Hamel BC, Betz RC. Refke M, et al. Among authors: betz rc. Br J Dermatol. 2011 Nov;165(5):1127-32. doi: 10.1111/j.1365-2133.2011.10495.x. Epub 2011 Sep 29. Br J Dermatol. 2011. PMID: 21718278

4

FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.

Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC. Naz G, et al. Among authors: betz rc. Br J Dermatol. 2012 May;166(5):1088-94. doi: 10.1111/j.1365-2133.2011.10800.x. Epub 2012 Apr 4. Br J Dermatol. 2012. PMID: 22211385

5

A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.

Redler S, Pasternack SM, Wolf S, Stienen D, Wenzel J, Nöthen MM, Betz RC. Redler S, et al. Among authors: betz rc. Clin Exp Dermatol. 2015 Oct;40(7):781-5. doi: 10.1111/ced.12631. Epub 2015 Mar 21. Clin Exp Dermatol. 2015. PMID: 25809918

6

Nails - more than just an ectodermal appendage: the genetics behind isolated nail disorders.

Betz RC. Betz RC. Br J Dermatol. 2015 Oct;173(4):886. doi: 10.1111/bjd.14148. Br J Dermatol. 2015. PMID: 26511821 No abstract available.

7

A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

Ou S, Cesarato N, Mauran P, Gellé MP, Thiele H, Betz RC, Viguier M, Gusdorf L. Ou S, et al. Among authors: betz rc. Clin Exp Dermatol. 2022 Jul;47(7):1424-1426. doi: 10.1111/ced.15210. Epub 2022 May 16. Clin Exp Dermatol. 2022. PMID: 35574671

8

Uncombable hair syndrome: Burdensome or captivating?

Heyers A, Basmanav FB, Betz RC. Heyers A, et al. Among authors: betz rc. Clin Exp Dermatol. 2024 Apr 20:llae140. doi: 10.1093/ced/llae140. Online ahead of print. Clin Exp Dermatol. 2024. PMID: 38641557 No abstract available.

9

The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach.

Hillmer AM, Kruse R, Macciardi F, Heyn U, Betz RC, Ruzicka T, Propping P, Nöthen MM, Cichon S. Hillmer AM, et al. Among authors: betz rc. Br J Dermatol. 2002 Apr;146(4):601-8. doi: 10.1046/j.1365-2133.2002.04766.x. Br J Dermatol. 2002. PMID: 11966690

10

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?

Jain M, Wallis D, Robin NH, De Vrieze FW, Hardy JA, Ghadami M, Bosse K, Betz RC, Nöthen MM, Arcos-Burgos M, Muenke M. Jain M, et al. Among authors: betz rc. Am J Med Genet A. 2008 Sep 1;146A(17):2308-11. doi: 10.1002/ajmg.a.32445. Am J Med Genet A. 2008. PMID: 18680190 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

189 results

Search Page