Regina C Betz

Regina C Betz

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Regina C Betz

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Two females with hair loss.

J Dtsch Dermatol Ges 2019 Aug 15;17(8):845-847. Epub 2019 Jul 15.

Department of Dermatology, Venereology and Allergology, Göttingen University Medical Center, Göttingen, Germany.

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http://dx.doi.org/10.1111/ddg.13886DOI Listing
August 2019

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

J Dermatol Sci 2019 Aug 9. Epub 2019 Aug 9.

Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, 87100, Quetta, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2019.08.003DOI Listing
August 2019

Zwei Frauen mit Haarverlust.

J Dtsch Dermatol Ges 2019 Aug;17(8):845-847

Klinik für Dermatologie, Venerologie und Allergologie, Universitätsmedizin Göttingen.

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http://dx.doi.org/10.1111/ddg.13886_gDOI Listing
August 2019

Variant in Central Centrifugal Cicatricial Alopecia.

N Engl J Med 2019 02 13;380(9):833-841. Epub 2019 Feb 13.

From the Department of Dermatology (L.M., O.S., A.P., M.P., E.W., L.S., V.B., J.M., E.S.) and the Institute of Pathology (A.G.), Tel Aviv Medical Center, the Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine (L.M., A.P., J.M., E.S.), and the Department of Cell and Developmental Biology (O.I., T.R., N.S.), Tel Aviv University, Tel Aviv, and the Schulich Faculty of Chemistry, Technion, Haifa (N.A.) - all in Israel; the Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany (M.-T.R., R.C.B.); L'Unité Différenciation Epitheliale et Autoimmunité Rhumatoïde (UDEAR), INSERM, Université Paul Sabatier, Université de Toulouse Midi-Pyrénées, Toulouse, France (M.-C.M., M.S.); the Department of Dermatology, Wake Forest Baptist Medical Center, Winston-Salem, NC (L.U., A.M.); and the Dermatology Department, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa (N.C.D).

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http://www.nejm.org/doi/10.1056/NEJMoa1816614
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http://dx.doi.org/10.1056/NEJMoa1816614DOI Listing
February 2019

Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN.

J Invest Dermatol 2018 05 11;138(5):1215-1218. Epub 2017 Nov 11.

Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

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http://dx.doi.org/10.1016/j.jid.2017.09.050DOI Listing
May 2018

[Monilethrix is a hereditary hair shaft disorder].

Ugeskr Laeger 2017 Sep;179(37)

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September 2017

Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.

Acta Derm Venereol 2017 Jul;97(7):862-863

Heinrich-Heine-University, Medical Faculty, , Institute of Human Genetics, , 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.2340/00015555-2658DOI Listing
July 2017

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

Exp Dermatol 2017 06;26(6):510-517

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1111/exd.13373DOI Listing
June 2017

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.

Authors:
Philip C Haycock Stephen Burgess Aayah Nounu Jie Zheng George N Okoli Jack Bowden Kaitlin Hazel Wade Nicholas J Timpson David M Evans Peter Willeit Abraham Aviv Tom R Gaunt Gibran Hemani Massimo Mangino Hayley Patricia Ellis Kathreena M Kurian Karen A Pooley Rosalind A Eeles Jeffrey E Lee Shenying Fang Wei V Chen Matthew H Law Lisa M Bowdler Mark M Iles Qiong Yang Bradford B Worrall Hugh Stephen Markus Rayjean J Hung Chris I Amos Amanda B Spurdle Deborah J Thompson Tracy A O'Mara Brian Wolpin Laufey Amundadottir Rachael Stolzenberg-Solomon Antonia Trichopoulou N Charlotte Onland-Moret Eiliv Lund Eric J Duell Federico Canzian Gianluca Severi Kim Overvad Marc J Gunter Rosario Tumino Ulrika Svenson Andre van Rij Annette F Baas Matthew J Bown Nilesh J Samani Femke N G van t'Hof Gerard Tromp Gregory T Jones Helena Kuivaniemi James R Elmore Mattias Johansson James Mckay Ghislaine Scelo Robert Carreras-Torres Valerie Gaborieau Paul Brennan Paige M Bracci Rachel E Neale Sara H Olson Steven Gallinger Donghui Li Gloria M Petersen Harvey A Risch Alison P Klein Jiali Han Christian C Abnet Neal D Freedman Philip R Taylor John M Maris Katja K Aben Lambertus A Kiemeney Sita H Vermeulen John K Wiencke Kyle M Walsh Margaret Wrensch Terri Rice Clare Turnbull Kevin Litchfield Lavinia Paternoster Marie Standl Gonçalo R Abecasis John Paul SanGiovanni Yong Li Vladan Mijatovic Yadav Sapkota Siew-Kee Low Krina T Zondervan Grant W Montgomery Dale R Nyholt David A van Heel Karen Hunt Dan E Arking Foram N Ashar Nona Sotoodehnia Daniel Woo Jonathan Rosand Mary E Comeau W Mark Brown Edwin K Silverman John E Hokanson Michael H Cho Jennie Hui Manuel A Ferreira Philip J Thompson Alanna C Morrison Janine F Felix Nicholas L Smith Angela M Christiano Lynn Petukhova Regina C Betz Xing Fan Xuejun Zhang Caihong Zhu Carl D Langefeld Susan D Thompson Feijie Wang Xu Lin David A Schwartz Tasha Fingerlin Jerome I Rotter Mary Frances Cotch Richard A Jensen Matthias Munz Henrik Dommisch Arne S Schaefer Fang Han Hanna M Ollila Ryan P Hillary Omar Albagha Stuart H Ralston Chenjie Zeng Wei Zheng Xiao-Ou Shu Andre Reis Steffen Uebe Ulrike Hüffmeier Yoshiya Kawamura Takeshi Otowa Tsukasa Sasaki Martin Lloyd Hibberd Sonia Davila Gang Xie Katherine Siminovitch Jin-Xin Bei Yi-Xin Zeng Asta Försti Bowang Chen Stefano Landi Andre Franke Annegret Fischer David Ellinghaus Carlos Flores Imre Noth Shwu-Fan Ma Jia Nee Foo Jianjun Liu Jong-Won Kim David G Cox Olivier Delattre Olivier Mirabeau Christine F Skibola Clara S Tang Merce Garcia-Barcelo Kai-Ping Chang Wen-Hui Su Yu-Sun Chang Nicholas G Martin Scott Gordon Tracey D Wade Chaeyoung Lee Michiaki Kubo Pei-Chieng Cha Yusuke Nakamura Daniel Levy Masayuki Kimura Shih-Jen Hwang Steven Hunt Tim Spector Nicole Soranzo Ani W Manichaikul R Graham Barr Bratati Kahali Elizabeth Speliotes Laura M Yerges-Armstrong Ching-Yu Cheng Jost B Jonas Tien Yin Wong Isabella Fogh Kuang Lin John F Powell Kenneth Rice Caroline L Relton Richard M Martin George Davey Smith

JAMA Oncol 2017 May;3(5):636-651

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, England2School of Social and Community Medicine, University of Bristol, Bristol, England.

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http://dx.doi.org/10.1001/jamaoncol.2016.5945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638008PMC
May 2017

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

Pediatr Dermatol 2014 Jan-Feb;31(1):83-7. Epub 2013 Sep 9.

As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait City, Kuwait.

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http://dx.doi.org/10.1111/pde.12219DOI Listing
September 2014

The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.

Indian J Dermatol 2014 Sep;59(5):476-80

Department of Dermatology, University of Düsseldorf, Medical Faculty, D-40225 Düsseldorf, Germany.

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http://dx.doi.org/10.4103/0019-5154.139884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4171917PMC
September 2014

Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm.

J Invest Dermatol 2012 Mar 15;132(3 Pt 2):906-14. Epub 2011 Dec 15.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/jid.2011.408DOI Listing
March 2012

Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.

Eur J Med Genet 2011 May-Jun;54(3):205-8. Epub 2010 Dec 9.

University Hospital Split, Department of Pediatrics, Division for Medical Genetics, Spinčićeva 1, 21000 Split, Croatia.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.013DOI Listing
September 2011

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

Dermatology 2010 ;221(3):206-10

Department of Dermatology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1159/000316091DOI Listing
August 2011

Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.

J Am Acad Dermatol 2011 Apr 24;64(4):e45-50. Epub 2010 Jul 24.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1016/j.jaad.2010.06.013DOI Listing
April 2011

Efficacy of ablative laser treatment in Galli-Galli disease.

Arch Dermatol 2011 Mar;147(3):317-20

Department of Dermatology and Allergy, University of Bonn, Germany.

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archdermatol.2011.3DOI Listing
March 2011

Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.

Am J Med Genet A 2010 Oct;152A(10):2628-33

Dermatology Clinic, Haydarpasa Numune Training and Research Hospital, and Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33649DOI Listing
October 2010

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

Arch Dermatol Res 2009 Sep 16;301(8):621-4. Epub 2009 Jun 16.

Institute of Human Genetics, University of Bonn, 53111 Bonn, Germany.

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http://dx.doi.org/10.1007/s00403-009-0971-5DOI Listing
September 2009

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

Arch Dermatol Res 2009 Jun 27;301(5):391-3. Epub 2008 Sep 27.

Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Rambam Health Care Campus, POB 9602, 31096, Haifa, Israel.

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http://link.springer.com/content/pdf/10.1007/s00403-008-0903
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http://link.springer.com/10.1007/s00403-008-0903-9
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http://dx.doi.org/10.1007/s00403-008-0903-9DOI Listing
June 2009

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

Am J Med Genet A 2008 Sep;146A(17):2308-11

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.32445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774842PMC
September 2008

Identification of a keratin-associated protein with a putative role in vesicle transport.

Eur J Cell Biol 2007 Dec 29;86(11-12):827-39. Epub 2007 Mar 29.

Institut für Physiologische Chemie, Abteilung für Zellbiochemie, Bonner Forum Biomedizin und LIMES, Rheinische Friedrich-Wilhelms-Universität, Nussallee 11, D-53115 Bonn, Germany.

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http://dx.doi.org/10.1016/j.ejcb.2007.02.004DOI Listing
December 2007

Identification of mutations in the human hairless gene in two new families with congenital atrichia.

Arch Dermatol Res 2007 Jun 20;299(3):157-61. Epub 2007 Mar 20.

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany.

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http://dx.doi.org/10.1007/s00403-007-0747-8DOI Listing
June 2007

Investigation of the HLA-DRB1 locus in alopecia areata.

Eur J Dermatol 2006 Jul-Aug;16(4):363-7

Institute for Legal Medicine, Charité University Hospital, Berlin, Germany.

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March 2007

MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?

Eur J Pediatr 2006 Aug 7;165(8):566-8. Epub 2006 Apr 7.

Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, 53111, Bonn, and Department of Pediatric Surgery and Pediatric Urology, Children's Hospital, Köln, Germany.

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http://dx.doi.org/10.1007/s00431-006-0116-1DOI Listing
August 2006

Familial aggregation of alopecia areata.

J Am Acad Dermatol 2006 Apr 23;54(4):627-32. Epub 2006 Jan 23.

Department of Medical Genetics, University Hospital of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.jaad.2005.12.007DOI Listing
April 2006

Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad.

Eur J Dermatol 2005 Sep-Oct;15(5):347-52

Department of Dermatology, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany.

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January 2006

KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.

Acta Derm Venereol 2005 ;85(2):152-5

Department of Dermatology, Odense University Hospital, 5000 Odense C, Denmark.

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http://dx.doi.org/10.1080/00015550410024148DOI Listing
July 2005

The FU gene and its possible protein isoforms.

BMC Genomics 2004 Jul 22;5(1):49. Epub 2004 Jul 22.

Department of Biosciences at Novum, Karolinska Institutet, SE-141 57 Huddinge, Sweden.

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http://dx.doi.org/10.1186/1471-2164-5-49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC512281PMC
July 2004