Katarzyna Wertheim-Tysarowska
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Explore the profile of Katarzyna Wertheim-Tysarowska including associated specialties, affiliations and a list of published articles.
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43
Citations
180
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Recent Articles
1.
Jankowska K, Kutkowska-Kazmierczak A, Slusarczyk K, Domaszewicz A, Duk K, Wolski J, et al.
J Appl Genet
. 2025 Jan;
PMID: 39809967
Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the...
2.
Rossel S, Reich A, Baniel A, Wertheim-Tysarowska K, Frommherz L, Nolberczak D, et al.
J Eur Acad Dermatol Venereol
. 2024 Nov;
PMID: 39564931
No abstract available.
3.
Wertheim-Tysarowska K, Osipowicz K, Wozniak K, Sawicka J, Mika A, Kutkowska-Kazmierczak A, et al.
Orphanet J Rare Dis
. 2024 Nov;
19(1):413.
PMID: 39501396
Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic...
4.
Wawrzycki B, Fryze M, Mlak R, Pelc A, Wertheim-Tysarowska K, Bygum A, et al.
J Clin Med
. 2024 Mar;
13(6).
PMID: 38541849
Dermatological conditions extend beyond physical symptoms, profoundly impacting the psychological well-being of patients. This study explores the intricate relationship between depressive symptoms, quality of life (QoL), and personality traits in...
5.
Wertheim-Tysarowska K, Osipowicz K, Gielniewski B, Wojtas B, Szabelska-Beresewicz A, Zyprych-Walczak J, et al.
Int J Mol Sci
. 2023 Jun;
24(11).
PMID: 37298411
Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by gene mutations. The pathogenesis of the disease is not yet fully understood. So far, only 10 pathogenic variants in...
6.
Mika A, Pakiet A, Szczygielski O, Wozniak K, Osipowicz K, Kowalewski C, et al.
Acta Biochim Pol
. 2022 Sep;
69(3):657-671.
PMID: 36099640
Background: The epidermis forms the barrier between an organism and its external environment. Although one of the major functional elements of the epidermis is the lipid-enriched extracellular matrix, containing mainly...
7.
Zdanowicz K, Uscinowicz M, Rakowska M, Wertheim-Tysarowska K, Rygiel A, Oracz G, et al.
J Pediatr Genet
. 2022 Aug;
11(3):232-235.
PMID: 35990036
Chronic pancreatitis (CP) is a rare disease in children. We describe the first case of a 3-year-old Caucasian patient with CP with the presence of a homozygous pathogenic variant c.194 ...
8.
Bisello G, Kusmierska K, Verbeek M, Sykut-Cegielska J, Willemsen M, Wevers R, et al.
Cell Mol Life Sci
. 2022 May;
79(6):305.
PMID: 35593933
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It is due to...
9.
Pietrzak A, Wawrzycki B, Schmuth M, Wertheim-Tysarowska K
Orphanet J Rare Dis
. 2022 Feb;
17(1):53.
PMID: 35172852
Background: Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published...
10.
Osipowicz K, Wertheim-Tysarowska K, Kwiek B, Jankowska E, Gos M, Charzewska A, et al.
Postepy Dermatol Alergol
. 2022 Feb;
38(6):1032-1038.
PMID: 35126011
Introduction: Mutations in the gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life. We observed a...