Search Results - "Piotrowicz, Malgorzata"

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome by Courage, Carolina, Jackson, Christopher B., Owczarek‐Lipska, Marta, Jamsheer, Aleksander, Sowińska‐Seidler, Anna, Piotrowicz, Małgorzata, Jakubowski, Lucjusz, Dallèves, Fanny, Riesch, Erik, Neidhardt, John, Lemke, Johannes R.

“…Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to…”
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The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder by Kucińska, Agata, Hawuła, Wanda, Rutkowska, Lena, Wysocka, Urszula, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Chilarska, Tatiana, Wieczorek-Cichecka, Nina, Połatyńska, Katarzyna, Przysło, Łukasz, Gach, Agnieszka

“…Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in…”
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Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity by Gos, Monika, Fahiminiya, Somayyeh, Poznański, Jarosław, Klapecki, Jakub, Obersztyn, Ewa, Piotrowicz, Małgorzata, Wierzba, Jolanta, Posmyk, Renata, Bal, Jerzy, Majewski, Jacek

“…Noonan syndrome (NS) is a common developmental disorder presenting with dysmorphic craniofacial features, heart defects, and short stature. It belongs to the…”
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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel by Rutkowska, Lena, Sałacińska, Kinga, Salachna, Dominik, Matusik, Paweł, Pinkier, Iwona, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Starostecka, Ewa, Lewiński, Andrzej, Gach, Agnieszka

“…The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical…”
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Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency by Hogendorf, Anna, Zieliński, Maciej, Constantinou, Maria, Śmigiel, Robert, Wierzba, Jolanta, Wyka, Krystyna, Wędrychowicz, Anna, Jakubiuk-Tomaszuk, Anna, Budzynska, Edyta, Piotrowicz, Malgorzata, Lipska-Ziętkiewicz, Beata S, Kaczorowska, Ewa, Cieślikowska, Agata, Kutkowska-Kaźmierczak, Anna, Fijak-Moskal, Jolanta, Kugaudo, Monika, Kosińska-Urbańska, Małgorzata, Szadkowska, Agnieszka, Borowiec, Maciej, Niedźwiecki, Maciej, Trzonkowski, Piotr, Młynarski, Wojciech

“…Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. We aimed to determine the…”
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Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome by Smyk, Marta, Geremek, Maciej, Ziemkiewicz, Kamila, Gambin, Tomasz, Kutkowska-Kaźmierczak, Anna, Kowalczyk, Katarzyna, Plaskota, Izabela, Wiśniowiecka-Kowalnik, Barbara, Bartnik-Głaska, Magdalena, Niemiec, Magdalena, Grad, Dominika, Piotrowicz, Małgorzata, Gieruszczak-Białek, Dorota, Pietrzyk, Aleksandra, Crowley, T Blaine, Giunta, Victoria, McGinn, Daniel E, Zackai, Elaine H, Tran, Oanh, Emanuel, Beverly S, McDonald-McGinn, Donna M, Nowakowska, Beata A

“…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…”
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Psycho-social problems in patients with 22q11.2 deletion syndrome – according to subjective evaluation by parents by Cywińska-Bernas, Agnieszka, Paśnik, Jarosław, Szałowska-Woźniak, Dorota, Pilarz, Eliza, Jarosz, Paweł, Piotrowicz, Małgorzata, Moll-Maryńczak, Agnieszka, Machnia, Marcin, Zeman, Krzysztof

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NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study by Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Wieczorek-Cichecka, Nina, Piotrowicz, Małgorzata, Chilarska, Tatiana, Jamsheer, Aleksander, Matusik, Paweł, Wilk, Małgorzata, Petriczko, Elżbieta, Giżewska, Maria, Stecewicz, Iwona, Walczak, Mieczysław, Rybak-Krzyszkowska, Magda, Lewiński, Andrzej, Gach, Agnieszka

“…Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and…”
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Correction: Kucińska et al. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. Brain Sci. 2024, 14 , 273 by Kucińska, Agata, Hawuła, Wanda, Rutkowska, Lena, Wysocka, Urszula, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Chilarska, Tatiana, Wieczorek-Cichecka, Nina, Połatyńska, Katarzyna, Przysło, Łukasz, Gach, Agnieszka

“…In the original publication [...]…”
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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3 by Guo, Tingwei, Repetto, Gabriela M, McDonald McGinn, Donna M, Chung, Jonathan H, Nomaru, Hiroko, Campbell, Christopher L, Blonska, Anna, Bassett, Anne S, Chow, Eva W C, Mlynarski, Elisabeth E, Swillen, Ann, Vermeesch, Joris, Devriendt, Koen, Gothelf, Doron, Carmel, Miri, Michaelovsky, Elena, Schneider, Maude, Eliez, Stephan, Antonarakis, Stylianos E, Coleman, Karlene, Tomita-Mitchell, Aoy, Mitchell, Michael E, Digilio, M Cristina, Dallapiccola, Bruno, Marino, Bruno, Philip, Nicole, Busa, Tiffany, Kushan-Wells, Leila, Bearden, Carrie E, Piotrowicz, Małgorzata, Hawuła, Wanda, Roberts, Amy E, Tassone, Flora, Simon, Tony J, van Duin, Esther D A, van Amelsvoort, Thérèse A, Kates, Wendy R, Zackai, Elaine, Johnston, H Richard, Cutler, David J, Agopian, A J, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, Emanuel, Beverly S, Morrow, Bernice E

“…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…”
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Subjective evaluation of admission and first days of hospitalization at a psychiatric ward from the perspective of patients by Błądziński, Piotr, Hat, Marta, Daren, Artur, Kruk, Dawid, Depukat, Anna, Cichocki, Łukasz, Wojtasik-Bakalarz, Krzysztof, Bryła, Małgorzata, Wronkowicz, Kamila, Dudek, Małgorzata, Prus-Piotrowicz, Małgorzata, Łukawska, Magdalena, Kędziora-Wysocka, Martyna, Woszczenko, Aleksandra, Cechnicki, Andrzej

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Comprehensive genomic analysis of patients with disorders of cerebral cortical development by Wiszniewski, Wojciech, Gawlinski, Pawel, Gambin, Tomasz, Bekiesinska-Figatowska, Monika, Obersztyn, Ewa, Antczak-Marach, Dorota, Akdemir, Zeynep Hande Coban, Harel, Tamar, Karaca, Ender, Jurek, Marta, Sobecka, Katarzyna, Nowakowska, Beata, Kruk, Malgorzata, Terczynska, Iwona, Goszczanska-Ciuchta, Alicja, Rudzka-Dybala, Mariola, Jamroz, Ewa, Pyrkosz, Antoni, Jakubiuk-Tomaszuk, Anna, Iwanowski, Piotr, Gieruszczak-Bialek, Dorota, Piotrowicz, Malgorzata, Sasiadek, Maria, Kochanowska, Iwona, Gurda, Barbara, Steinborn, Barbara, Dawidziuk, Mateusz, Castaneda, Jennifer, Wlasienko, Pawel, Bezniakow, Natalia, Jhangiani, Shalini N, Hoffman-Zacharska, Dorota, Bal, Jerzy, Szczepanik, Elzbieta, Boerwinkle, Eric, Gibbs, Richard A, Lupski, James R

“…Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy,…”
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Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome by Mlynarski, Elisabeth E., Sheridan, Molly B., Xie, Michael, Guo, Tingwei, Racedo, Silvia E., McDonald McGinn, Donna M., Gai, Xiaowu, Chow, Eva W.C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H., Bassett, Anne S., Goldmuntz, Elizabeth, Morrow, Bernice E., Emanuel, Beverly S.

“…The 22q11.2 deletion syndrome (22q11DS; velocardiofacial /DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic…”
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Thalidomide in the treatment of multiple myeloma by Rokicka-Piotrowicz, Malgorzata

“…More than three decades after its withdrawal from the world market thalidomide is attracting growing interest because of its reported antiangiogenetic,…”
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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome by Mlynarski, Elisabeth E., Xie, Michael, Taylor, Deanne, Sheridan, Molly B., Guo, Tingwei, Racedo, Silvia E., McDonald-McGinn, Donna M., Chow, Eva W. C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine- Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S., Morrow, Bernice E., Emanuel, Beverly S.

“…The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The…”
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Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome by Hibner, E.lżabieta, Wendorff, Janusz, Ircha, Grażyna, Piotrowicz, Malgorzata, Zeman, Krzysztof

“…The aim of the study was to present rarely reported neurologic complications in Nijmegen breakage syndrome. A 13-year-old female was referred because of…”
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Prenatal suspicion of Noonan syndrome on the basis of echocardiographic findings - a case report by Moczulska, Hanna, Piotrowicz, Małgorzata, Janiak, Katarzyna, Jakubowski, Lucjusz, Respondek-Liberska, Maria

“…Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. It is mainly characterized by congenital heart defects, short stature, and…”
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Lentigines in different multiple organ defects syndromes by Rotsztejn, Helena, Juchniewicz, Barbara, Piotrowicz, Małgorzata, Wendorff, Janusz, Czkwianianc, Elzbieta

“…The aim of our study is to introduce a larger number of doctors to the subject of lentigines. They may be a first syndrome coexistent with very rare multiple…”
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The 22q11.2 deletion syndrome: immunological questions by Paśnik, Jarosław, Cywińska-Bernas, Agnieszka, Piotrowicz, Małgorzata

“…The 22q11.2 deletion syndrome occurs in approximately 1 of 3000-5000 children. This is a congenital disorder characterized by facial dysmorphic features,…”
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The coexistence of atopic dermatitis and psoriasis in a 12 months-old girl by Kamer, Barbara, Rotsztejn, Helena, Kulig, Andrzej, Raczyńska, Jolanta, Piotrowicz, Małgorzata, Kulig, Karolina, Pyziak, Konrad

“…The coexistence of atopic dermatitis and psoriasis is especially rare diagnosed disease in small children. Authors present a 12 months-old girl with both of…”
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