Lista de obras - Regina Christine Betz - Dominio Público Uruguay

A path through the reticulate pigmentation disorder jungle.

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

artículo científico publicado en 2021

Lista de obras de 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