List of works - Regina Christine Betz

A path through the reticulate pigmentation disorder jungle.

scientific article

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

scientific article published on 26 December 2017

Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology

article

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

scientific article published in November 2022

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

scientific article published on 23 February 2017

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

scientific article published on 02 December 2019

Erratum: Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

scholarly article published in Nature Genetics

Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance

scientific article

Genetic variants in CTLA4 are strongly associated with alopecia areata

article

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

scientific article

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

scientific article

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

scientific article published on 26 October 2011

Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26

scientific article

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

scientific article published on 10 February 2022

Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease

article

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

scientific article published on 4 January 2009

Mast cell activation in Dowling-Degos disease

scientific article published on 22 August 2019

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

scientific article

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

scientific article published on 24 July 2019

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

scientific article published on 27 May 2021

List of works by Regina Christine Betz

A path through the reticulate pigmentation disorder jungle.

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

Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

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

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

Erratum: Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance

Genetic variants in CTLA4 are strongly associated with alopecia areata

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

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

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Mast cell activation in Dowling-Degos disease

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

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

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies