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30 Results  for Everything (Includes Articles)

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

Betz, R. C.

British Journal of Dermatology, October 2015, Vol.173(4), pp.886-886 [Peer Reviewed Journal]

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A path through the reticulate pigmentation disorder jungle

Betz, R. C.

British Journal of Dermatology, October 2017, Vol.177(4), pp.893-894 [Peer Reviewed Journal]

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Autosomal recessive isolated familial acanthosis nigricans in a P akistani family due to a homozygous mutation in the insulin receptor gene

Ahmad, S. ; Mahmoudi, H. ; Naeem, M. ; Betz, R. C.

British Journal of Dermatology, August 2013, Vol.169(2), pp.476-478 [Peer Reviewed Journal]

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Steatocystoma multiplex: keratin 17 – the key player?

Antal, A. S. ; Kulichova, D. ; Redler, S. ; Betz, R. C. ; Ruzicka, T.

British Journal of Dermatology, December 2012, Vol.167(6), pp.1395-1397 [Peer Reviewed Journal]

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

Naz, G. ; Pasternack, S. M. ; Perrin, C. ; Mattheisen, M. ; Refke, M. ; Khan, S. ; Gul, A. ; Simons, M. ; Ahmad, W. ; Betz, R. C.

British Journal of Dermatology, May 2012, Vol.166(5), pp.1088-1094 [Peer Reviewed Journal]

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6
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Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level

Betz, R. C.

British Journal of Dermatology, August 2019, Vol.181(2), pp.241-241 [Peer Reviewed Journal]

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Genetics and other factors in the aetiology of female pattern hair loss.

Redler, S. ; Messenger, A. G. ; Betz, R. C.

Genetics and other factors in the aetiology of female pattern hair loss. Experimental Dermatology [Peer Reviewed Journal]

2017

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8
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Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay

Refke, M. ; Pasternack, S. M. ; Fiebig, B. ; Wenzel, S. ; Ishorst, N. ; Ludwig, M. ; Nöthen, M. M. ; Seyger, M. M. ; Hamel, B. C. ; Betz, R. C.

British Journal of Dermatology, November 2011, Vol.165(5), pp.1127-1132 [Peer Reviewed Journal]

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9
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Investigation of variants of the aromatase gene (CYP19A1) in female pattern hair loss

Redler, S. ; Birch, M. P. ; Drichel, D. ; Dobson, K. ; Brockschmidt, F. F. ; Tazi‐Ahnini, R. ; Giehl, K. A. ; Kluck, N. ; Kruse, R. ; Lutz, G. ; Wolff, H. ; Becker, T. ; Nöthen, M. M. ; Messenger, A. G. ; Betz, R. C.

British Journal of Dermatology, September 2011, Vol.165(3), pp.703-705 [Peer Reviewed Journal]

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10
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An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction

Humbatova, A. ; Maroofian, R. ; Romano, M. ‐T. ; Tafazzoli, A. ; Behnam, M. ; Dilaver, N. ; Nouri, N. ; Salehi, M. ; Wolf, S. ; Frank, J. ; Kokordelis, P. ; Betz, R. C.

British Journal of Dermatology, April 2018, Vol.178(4), pp.e265-e267 [Peer Reviewed Journal]

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Investigation of selected cytokine genes suggests that IL2RA and the TNF / LTA locus are risk factors for severe alopecia areata

Redler, S. ; Albert, F. ; Brockschmidt, F. F. ; Herold, C. ; Hanneken, S. ; Eigelshoven, S. ; Giehl, K. A. ; Kruse, R. ; Lutz, G. ; Wolff, H. ; Blaumeiser, B. ; Böhm, M. ; Becker, T. ; Nöthen, M. M. ; Betz, R. C.

British Journal of Dermatology, December 2012, Vol.167(6), pp.1360-1365 [Peer Reviewed Journal]

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12
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Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura

Ralser, D. J. ; Lestringant, G. G. ; Du‐Thanh, A. ; Kokordelis, P. ; Fischer, J. ; Basmanav, F. B. Ünalan ; Wolf, S. ; Thiele, H. ; Altmüller, J. ; Nürnberg, P. ; Oji, V. ; Fritz, G. ; Frank, J. ; Betz, R. C.

British Journal of Dermatology, December 2017, Vol.177(6), pp.e340-e343 [Peer Reviewed Journal]

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13
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Investigation of the male pattern baldness major genetic susceptibility loci AR / EDA2R and 20p11 in female pattern hair loss

Redler, S. ; Brockschmidt, F. F. ; Tazi‐Ahnini, R. ; Drichel, D. ; Birch, M. P. ; Dobson, K. ; Giehl, K. A. ; Herms, S. ; Refke, M. ; Kluck, N. ; Kruse, R. ; Lutz, G. ; Wolff, H. ; Böhm, M. ; Becker, T. ; Nöthen, M. M. ; Messenger, A. G. ; Betz, R. C.

British Journal of Dermatology, June 2012, Vol.166(6), pp.1314-1318 [Peer Reviewed Journal]

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14
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Systematic mutation screening of KRT5 supports the hypothesis that Galli–Galli disease is a variant of Dowling–Degos disease

Hanneken, S. ; Rütten, A. ; Pasternack, S. M. ; Eigelshoven, S. ; El Shabrawi‐Caelen, L. ; Wenzel, J. ; Braun‐Falco, M. ; Ruzicka, T. ; Nöthen, M. M. ; Kruse, R. ; Betz, R. C.

British Journal of Dermatology, July 2010, Vol.163(1), pp.197-200 [Peer Reviewed Journal]

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15
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The TRAF1/C5 locus confers risk for familial and severe alopecia areata

Redler, S. ; Brockschmidt, F. F. ; Forstbauer, L. ; Giehl, K. A. ; Herold, C. ; Eigelshoven, S. ; Hanneken, S. ; De Weert, J. ; Lutz, G. ; Wolff, H. ; Kruse, R. ; Blaumeiser, B. ; Böhm, M. ; Becker, T. ; Nöthen, M. M. ; Betz, R. C.

British Journal of Dermatology, April 2010, Vol.162(4), pp.866-869 [Peer Reviewed Journal]

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16
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The oestrogen receptor 2 ( ESR 2 ) gene in female‐pattern hair loss: replication of association with rs10137185 in German patients

Redler, S. ; Birch, P. ; Drichel, D. ; Hofmann, P. ; Dobson, K. ; Böhmer, A. C. ; Becker, J. ; Giehl, K. A. ; Tazi‐Ahnini, R. ; Kruse, R. ; Wolff, H. ; Miesel, A. ; Fischer, T. ; Böhm, M. ; Nuwayhid, R. ; Garcia Bartels, N. ; Lutz, G. ; Becker, T. ; Blume‐Peytavi, U. ; Nöthen, M. M. ; Messenger, A. G. ; Betz, R. C.

British Journal of Dermatology, April 2014, Vol.170(4), pp.982-985 [Peer Reviewed Journal]

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17
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A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism

Redler, S. ; Pasternack, S. M. ; Wolf, S. ; Stienen, D. ; Wenzel, J. ; Nöthen, M. M. ; Betz, R. C.

Clinical and Experimental Dermatology, October 2015, Vol.40(7), pp.781-785 [Peer Reviewed Journal]

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18
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Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

Pasternack, S. M. ; Betz, R. C. ; Brandrup, F. ; Gade, E. F. ; Clemmensen, O. ; Lund, A. M. ; Christensen, E. ; Bygum, A.

British Journal of Dermatology, March 2009, Vol.160(3), pp.704-706 [Peer Reviewed Journal]

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19
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Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

Kasparis, C. ; Reid, D. ; Wilson, N. J. ; Okur, V. ; Cole, C. ; Hansen, C. D. ; Bosse, K. ; Betz, R. C. ; Khan, M. ; Smith, F. J. D.

Clinical and Experimental Dermatology, December 2016, Vol.41(8), pp.884-889 [Peer Reviewed Journal]

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20
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Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia

Hillmer, A M ; Kruse, R ; Betz, R C ; Schumacher, J ; Heyn, U ; Propping, P ; Nöthen, M M ; Cichon, S

American journal of human genetics, July 2001, Vol.69(1), pp.235-7 [Peer Reviewed Journal]

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21
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The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family‐based association approach

Hillmer, A. M. ; Kruse, R. ; Macciardi, F. ; Heyn, U. ; Betz, R. C. ; Ruzicka, T. ; Propping, P. ; Nöthen, M. M. ; Cichon, S.

British Journal of Dermatology, April 2002, Vol.146(4), pp.601-608 [Peer Reviewed Journal]

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22
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The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata

Betz, R. C. ; König, K. ; Flaquer, A. ; Redler, S. ; Eigelshoven, S. ; Kortüm, A. ‐K. ; Hanneken, S. ; Hillmer, A. ; Tüting, T. ; Lambert, J. ; De Weert, J. ; Kruse, R. ; Lutz, G. ; Blaumeiser, B. ; Nöthen, M. M.

British Journal of Dermatology, February 2008, Vol.158(2), pp.389-391 [Peer Reviewed Journal]

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23
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Localization of a gene for syndactyly type 1 to chromosome 2q34-q36

Bosse, K ; Betz, R C ; Lee, Y A ; Wienker, T F ; Reis, A ; Kleen, H ; Propping, P ; Cichon, S ; Nöthen, M M

American journal of human genetics, August 2000, Vol.67(2), pp.492-7 [Peer Reviewed Journal]

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24
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A non‐sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp

Dávalos, N. O. ; García‐Vargas, A. ; Pforr, J. ; Dávalos, I. P. ; Picos‐Cárdenas, V. J. ; García‐Cruz, D. ; Kruse, R. ; Figuera, L. E. ; Nöthen, M. M. ; Betz, R. C.

British Journal of Dermatology, December 2005, Vol.153(6), pp.1216-1219 [Peer Reviewed Journal]

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25
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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

Betz, R C ; Schoser, B G ; Kasper, D ; Ricker, K ; Ramírez, A ; Stein, V ; Torbergsen, T ; Lee, Y A ; Nöthen, M M ; Wienker, T F ; Malin, J P ; Propping, P ; Reis, A ; Mortier, W ; Jentsch, T J ; Vorgerd, M ; Kubisch, C

Nature genetics, July 2001, Vol.28(3), pp.218-9 [Peer Reviewed Journal]

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26
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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, S. M. ; Betz, R. C.

Clinical and Experimental Dermatology, December 2009, Vol.34(8), pp.e953-e956 [Peer Reviewed Journal]

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27
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Mast cell activation in Dowling-Degos disease

Knuever, J ; Persa, O D ; Illerhaus, A ; Ralser, D J ; Hartmann, K ; Betz, R C ; Tantcheva-Poór, I

The British journal of dermatology, 17 June 2019 [Peer Reviewed Journal]

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28
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A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3

Betz, R C ; Lee, Y A ; Bygum, A ; Brandrup, F ; Bernal, A I ; Toribio, J ; Alvarez, J I ; Kukuk, G M ; Ibsen, H H ; Rasmussen, H B ; Wienker, T F ; Reis, A ; Propping, P ; Kruse, R ; Cichon, S ; Nöthen, M M

American journal of human genetics, June 2000, Vol.66(6), pp.1979-83 [Peer Reviewed Journal]

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29
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Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator ( AIRE ) gene in alopecia areata

Pforr, J. ; Blaumeiser, B. ; Becker, T. ; Freudenberg‐Hua, Y. ; Hanneken, S. ; Eigelshoven, S. ; Cuyt, I. ; De Weert, J. ; Lambert, J. ; Kruse, R. ; Nöthen, M. M. ; Betz, R. C.

Tissue Antigens, July 2006, Vol.68(1), pp.58-61 [Peer Reviewed Journal]

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30
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Investigation of the functional variant c.‐169T > C of the Fc receptor‐like 3 (FCRL3) gene in alopecia areata

Schäfer, N. ; Blaumeiser, B. ; Becker, T. ; Freudenberg‐Hua, Y. ; Hanneken, S. ; Eigelshoven, S. ; Schmael, C. ; Lambert, J. ; De Weert, J. ; Kruse, R. ; Nöthen, M. M. ; Betz, R. C.

International Journal of Immunogenetics, December 2006, Vol.33(6), pp.393-395 [Peer Reviewed Journal]

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