Malgorzata Piotrowicz
Overview
Explore the profile of Malgorzata Piotrowicz including associated specialties, affiliations and a list of published articles.
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23
Citations
156
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Recent Articles
1.
Kaluzewski T, Pinkier I, Wysocka U, Salamunia J, Kepczynski L, Piotrowicz M, et al.
Appl Clin Genet
. 2024 Dec;
17:205-214.
PMID: 39722830
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization...
2.
Kucinska A, Hawula W, Rutkowska L, Wysocka U, Kepczynski L, Piotrowicz M, et al.
Brain Sci
. 2024 Jun;
14(6).
PMID: 38928622
In the original publication [...].
3.
Kucinska A, Hawula W, Rutkowska L, Wysocka U, Kepczynski L, Piotrowicz M, et al.
Brain Sci
. 2024 Mar;
14(3).
PMID: 38539661
Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in social communication and repetitive behavior. Although the etiology of...
4.
Salacinska K, Pinkier I, Rutkowska L, Chlebna-Sokol D, Jakubowska-Pietkiewicz E, Michalus I, et al.
Front Endocrinol (Lausanne)
. 2023 Oct;
14:1149982.
PMID: 37810882
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to...
5.
Smyk M, Geremek M, Ziemkiewicz K, Gambin T, Kutkowska-Kazmierczak A, Kowalczyk K, et al.
Genes (Basel)
. 2023 Mar;
14(3).
PMID: 36980952
22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in...
6.
Rutkowska L, Salacinska K, Salachna D, Matusik P, Pinkier I, Kepczynski L, et al.
Genes (Basel)
. 2022 Jun;
13(6).
PMID: 35741760
The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and...
7.
Hogendorf A, Zielinski M, Constantinou M, Smigiel R, Wierzba J, Wyka K, et al.
Front Immunol
. 2021 Dec;
12:742834.
PMID: 34867966
Introduction: Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. We aimed to determine the prevalence, mechanism, and genetic background of...
8.
Courage C, Jackson C, Owczarek-Lipska M, Jamsheer A, Sowinska-Seidler A, Piotrowicz M, et al.
Am J Med Genet A
. 2019 Sep;
179(12):2447-2453.
PMID: 31512363
Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to these symptoms patients with Hartsfield syndrome can show...
9.
Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, et al.
Eur J Hum Genet
. 2018 May;
26(8):1121-1131.
PMID: 29706646
Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture...
10.
Guo T, Repetto G, McDonald McGinn D, Chung J, Nomaru H, Campbell C, et al.
Circ Cardiovasc Genet
. 2017 Oct;
10(5).
PMID: 29025761
Background: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild...