Search details
1.
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
J Eur Acad Dermatol Venereol
; 2024 May 13.
Article
in English
| MEDLINE | ID: mdl-38741524
2.
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.
Br J Dermatol
; 188(1): 94-99, 2023 01 23.
Article
in English
| MEDLINE | ID: mdl-36689507
3.
Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families.
Pediatr Dermatol
; 40(1): 113-119, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36670503
4.
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
J Neural Transm (Vienna)
; 129(11): 1387-1391, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36205783
5.
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.
J Med Genet
; 58(6): 415-421, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32817298
6.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Hum Mutat
; 40(12): 2318-2333, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31347739
7.
Persistierende hyperkeratotische Plaques: Persistent hyperkeratotic plaques.
J Dtsch Dermatol Ges
; 22(3): 457-461, 2024 03.
Article
in German
| MEDLINE | ID: mdl-38450834
8.
Persistent hyperkeratotic plaques.
J Dtsch Dermatol Ges
; 22(3): 457-461, 2024 03.
Article
in Catalan, English
| MEDLINE | ID: mdl-38419592
9.
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hum Mutat
; 39(10): 1305-1313, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30011118
10.
SUPPRESSOR OF FRIGIDA (SUF4) Supports Gamete Fusion via Regulating Arabidopsis EC1 Gene Expression.
Plant Physiol
; 173(1): 155-166, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27920160
11.
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.
Am J Med Genet A
; 176(12): 2862-2866, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30561130
12.
Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing.
Br J Dermatol
; 188(1): 8-9, 2023 01 23.
Article
in English
| MEDLINE | ID: mdl-36689526
13.
A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family.
Europace
; 20(12): 2003-2013, 2018 12 01.
Article
in English
| MEDLINE | ID: mdl-29947763
14.
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.
Genes (Basel)
; 15(3)2024 Feb 24.
Article
in English
| MEDLINE | ID: mdl-38540347
15.
Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.
J Invest Dermatol
; 2024 Apr 18.
Article
in English
| MEDLINE | ID: mdl-38642798
16.
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Genes (Basel)
; 14(3)2023 03 15.
Article
in English
| MEDLINE | ID: mdl-36980989
17.
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.
Genes (Basel)
; 13(3)2022 03 08.
Article
in English
| MEDLINE | ID: mdl-35328032
18.
Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita.
Front Immunol
; 13: 883967, 2022.
Article
in English
| MEDLINE | ID: mdl-35464429
19.
The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Genes (Basel)
; 12(10)2021 09 24.
Article
in English
| MEDLINE | ID: mdl-34680878
20.
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Genes (Basel)
; 12(1)2021 01 09.
Article
in English
| MEDLINE | ID: mdl-33435499