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Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

American journal of human genetics, 2014-01, Vol.94 (1), p.135-143

2014

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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

American journal of human genetics, 2016-08, Vol.99 (2), p.337-351

2016

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The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

Brain (London, England : 1878), 2011-12, Vol.134 (12), p.3527-3543

2011

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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American journal of human genetics, 2018-11, Vol.103 (5), p.777-785

2018

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Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness

PloS one, 2021-09, Vol.16 (9), p.e0256846-e0256846

2021

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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

American journal of human genetics, 2020-07, Vol.107 (1), p.34-45

2020

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Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

Cancer gene therapy, 2022-06, Vol.29 (6), p.697-708

2022

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Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma

Cancer research (Chicago, Ill.), 2015-02, Vol.75 (3), p.532-543

2015

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Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study

PloS one, 2019-03, Vol.14 (3), p.e0213381-e0213381

2019

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Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

American journal of human genetics, 2012-11, Vol.91 (5), p.906-911

2012

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G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

Nature genetics, 2008-03, Vol.40 (3), p.329-334

2008

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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Journal of Medical Genetics, 2012-09, Vol.49 (9), p.547-553

2012

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

Journal of investigative dermatology, 2013-06, Vol.133 (6), p.1489-1496

2013

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A woman with hyperpigmented macules and papules

Journal der Deutschen Dermatologischen Gesellschaft, 2021-11, Vol.19 (11), p.1656-1660

2021

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Genetic lessons learned from pathogenic variants in KRT1

Journal of the European Academy of Dermatology and Venereology, 2022-10, Vol.36 (10), p.1683-1684

Betz, Regina C.

2022

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Uncombable hair improved by biotin

JEADV clinical practice, 2023-06, Vol.2 (2), p.313-315

2023

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Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American journal of human genetics, 2013-01, Vol.92 (1), p.81-87

2013

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Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

American journal of human genetics, 2012-10, Vol.91 (4), p.754-759

2012

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

PloS one, 2019-12, Vol.14 (12), p.e0225943-e0225943

2019

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Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

American journal of human genetics, 2006-03, Vol.78 (3), p.510-519

2006

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Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata

Journal of investigative dermatology, 2018-03, Vol.138 (3), p.549-556

2018

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IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

American journal of human genetics, 2009-04, Vol.84 (4), p.459-467

2009

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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Genetics in medicine, 2020-07, Vol.22 (7), p.1227-1234

2020

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Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

Journal of investigative dermatology, 2017-05, Vol.137 (5), p.1176-1179

2017

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Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

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

A woman with hyperpigmented macules and papules

Genetic lessons learned from pathogenic variants in KRT1

Uncombable hair improved by biotin

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

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

Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

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