Betz RC - Search Results

1

Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.

Nanda A, Pasternack SM, Mahmoudi H, Ishorst N, Grimalt R, Betz RC. Nanda A, et al. Among authors: betz rc. Pediatr Dermatol. 2014 Jan-Feb;31(1):83-7. doi: 10.1111/pde.12219. Epub 2013 Sep 9. Pediatr Dermatol. 2014. PMID: 24015686

2

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.

Pasternack SM, von Kügelgen I, Al Aboud K, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC. Pasternack SM, et al. Among authors: betz rc. Nat Genet. 2008 Mar;40(3):329-34. doi: 10.1038/ng.84. Epub 2008 Feb 24. Nat Genet. 2008. PMID: 18297070

3

Richner-Hanhart syndrome detected by expanded newborn screening.

Meissner T, Betz RC, Pasternack SM, Eigelshoven S, Ruzicka T, Kruse R, Laitenberger G, Mayatepek E. Meissner T, et al. Among authors: betz rc. Pediatr Dermatol. 2008 May-Jun;25(3):378-80. doi: 10.1111/j.1525-1470.2008.00687.x. Pediatr Dermatol. 2008. PMID: 18577048

4

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.

Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E. Nahum S, et al. Among authors: betz rc. Arch Dermatol Res. 2009 Jun;301(5):391-3. doi: 10.1007/s00403-008-0903-9. Epub 2008 Sep 27. Arch Dermatol Res. 2009. PMID: 18820939

5

Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.

Pasternack SM, Betz RC, Brandrup F, Gade EF, Clemmensen O, Lund AM, Christensen E, Bygum A. Pasternack SM, et al. Among authors: betz rc. Br J Dermatol. 2009 Mar;160(3):704-6. doi: 10.1111/j.1365-2133.2008.08888.x. Epub 2008 Oct 13. Br J Dermatol. 2009. PMID: 18945316 No abstract available.

6

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.

Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC. Pasternack SM, et al. Among authors: betz rc. Arch Dermatol Res. 2009 Sep;301(8):621-4. doi: 10.1007/s00403-009-0971-5. Epub 2009 Jun 16. Arch Dermatol Res. 2009. PMID: 19529952

7

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.

Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, Nöthen MM, Janecke AR, Betz RC. Pasternack SM, et al. Among authors: betz rc. J Invest Dermatol. 2009 Dec;129(12):2772-6. doi: 10.1038/jid.2009.154. Epub 2009 Jun 18. J Invest Dermatol. 2009. PMID: 19536142 Free article.

8

Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.

Düzenli S, Redler S, Müller M, Polat M, Dogruer D, Pasternack SM, Betz RC. Düzenli S, et al. Among authors: betz rc. Clin Exp Dermatol. 2009 Dec;34(8):e953-6. doi: 10.1111/j.1365-2230.2009.03644.x. Clin Exp Dermatol. 2009. PMID: 20055871

9

Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.

Hanneken S, Rütten A, Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L, Wenzel J, Braun-Falco M, Ruzicka T, Nöthen MM, Kruse R, Betz RC. Hanneken S, et al. Among authors: betz rc. Br J Dermatol. 2010 Jul;163(1):197-200. doi: 10.1111/j.1365-2133.2010.09741.x. Epub 2010 Mar 5. Br J Dermatol. 2010. PMID: 20222933

10

Generalized solar lentigines in a patient with a history of radon exposure.

Mauerer A, Betz RC, Pasternack SM, Landthaler M, Hafner C. Mauerer A, et al. Among authors: betz rc. Dermatology. 2010;221(3):206-10. doi: 10.1159/000316091. Dermatology. 2010. PMID: 20664185

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