Betz RC - Search Results

1

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.

2

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM. Betz RC, et al. Am J Hum Genet. 2000 Jun;66(6):1979-83. doi: 10.1086/302934. Epub 2000 May 2. Am J Hum Genet. 2000. PMID: 10793007 Free PMC article.

3

Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia.

Hillmer AM, Kruse R, Betz RC, Schumacher J, Heyn U, Propping P, Nöthen MM, Cichon S. Hillmer AM, et al. Among authors: betz rc. Am J Hum Genet. 2001 Jul;69(1):235-7. doi: 10.1086/321273. Am J Hum Genet. 2001. PMID: 11410842 Free PMC article. No abstract available.

4

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C. Betz RC, et al. Nat Genet. 2001 Jul;28(3):218-9. doi: 10.1038/90050. Nat Genet. 2001. PMID: 11431690

5

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

6

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.

Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nöthen MM, Pras E. Levy-Nissenbaum E, et al. Among authors: betz rc. Nat Genet. 2003 Jun;34(2):151-3. doi: 10.1038/ng1163. Nat Genet. 2003. PMID: 12754508

7

The FU gene and its possible protein isoforms.

Østerlund T, Everman DB, Betz RC, Mosca M, Nöthen MM, Schwartz CE, Zaphiropoulos PG, Toftgård R. Østerlund T, et al. Among authors: betz rc. BMC Genomics. 2004 Jul 22;5(1):49. doi: 10.1186/1471-2164-5-49. BMC Genomics. 2004. PMID: 15268766 Free PMC article.

8

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.

Hillmer AM, Hanneken S, Ritzmann S, Becker T, Freudenberg J, Brockschmidt FF, Flaquer A, Freudenberg-Hua Y, Jamra RA, Metzen C, Heyn U, Schweiger N, Betz RC, Blaumeiser B, Hampe J, Schreiber S, Schulze TG, Hennies HC, Schumacher J, Propping P, Ruzicka T, Cichon S, Wienker TF, Kruse R, Nothen MM. Hillmer AM, et al. Among authors: betz rc. Am J Hum Genet. 2005 Jul;77(1):140-8. doi: 10.1086/431425. Epub 2005 May 18. Am J Hum Genet. 2005. PMID: 15902657 Free PMC article.

9

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.

Dávalos NO, García-Vargas A, Pforr J, Dávalos IP, Picos-Cárdenas VJ, García-Cruz D, Kruse R, Figuera LE, Nöthen MM, Betz RC. Dávalos NO, et al. Among authors: betz rc. Br J Dermatol. 2005 Dec;153(6):1216-9. doi: 10.1111/j.1365-2133.2005.06958.x. Br J Dermatol. 2005. PMID: 16307662

10

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nöthen MM, Magin TM, Kruse R. Betz RC, et al. Am J Hum Genet. 2006 Mar;78(3):510-9. doi: 10.1086/500850. Epub 2006 Jan 19. Am J Hum Genet. 2006. PMID: 16465624 Free PMC article.

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