Katalin Komlosi
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Explore the profile of Katalin Komlosi including associated specialties, affiliations and a list of published articles.
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68
Citations
340
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Recent Articles
1.
Bochnig O, Giese T, Fischer J, Komlosi K, Mihalceanu S, Ott H, et al.
J Eur Acad Dermatol Venereol
. 2025 Feb;
PMID: 39936550
No abstract available.
2.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
Res Sq
. 2024 Jun;
PMID: 38903062
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
3.
Fischer J, Hotz A, Komlosi K
Med Genet
. 2024 Jun;
35(1):23-32.
PMID: 38835422
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are further defined on the basis of clinical and genetic features and can be divided into non-syndromic and syndromic...
4.
Komlosi K, Glocker C, Hsu-Rehder H, Alter S, Kopp J, Hotz A, et al.
J Invest Dermatol
. 2024 Apr;
144(12):2754-2763.e6.
PMID: 38642798
The identification of monogenic causes for cornification disorders has enhanced our understanding of epidermal differentiation and skin barrier function. Autosomal dominant lamellar ichthyosis is a rare condition, and ASPRV1 was...
5.
Hotz A, Folster-Holst R, Oji V, Bourrat E, Frank J, Marrakchi S, et al.
Genes (Basel)
. 2024 Mar;
15(3).
PMID: 38540347
Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in...
6.
Koutra E, Lusmoller E, Fischer J, Komlosi K, Stadler R, Gutzmer R
Dermatologie (Heidelb)
. 2024 Feb;
75(6):486-491.
PMID: 38366244
We report a case of a 29-year-old woman with subtle partial erythematous, partial hyperpigmented streaks along the Blaschko's lines on the right side of the body since early childhood. Primary...
7.
Gobel T, Maier A, Schlump A, Runge K, Nickel K, Tebartz van Elst L, et al.
Eur Neuropsychopharmacol
. 2023 Dec;
78:67-69.
PMID: 38041926
No abstract available.
8.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
medRxiv
. 2023 Jul;
PMID: 37503210
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
9.
Toutouna L, Beck-Woedl S, Feige U, Glaeser B, Komlosi K, Eckenweiler M, et al.
Am J Med Genet A
. 2023 Jul;
191(10):2656-2663.
PMID: 37466007
Biallelic pathogenic variants in LAMB1 have been associated with autosomal recessive lissencephaly 5 (OMIM 615191), which is characterized by brain malformations (cobblestone lissencephaly, hydrocephalus), developmental delay, and epilepsy. Pathogenic variants...
10.
Hotz A, Kopp J, Bourrat E, Oji V, Sussmuth K, Komlosi K, et al.
Genes (Basel)
. 2023 Mar;
14(3).
PMID: 36980989
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and...