Search Results - "Cieślikowska, Agata"

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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Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome by Pelc, Magdalena, Ciara, Elżbieta, Jezela-Stanek, Aleksandra, Kugaudo, Monika, Cieślikowska, Agata, Jurkiewicz, Dorota, Janeczko, Magdalena, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Skórka, Agata

“…Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive,…”
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Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene by Ciara, Elżbieta, Pelc, Magdalena, Jurkiewicz, Dorota, Kugaudo, Monika, Gieruszczak-Białek, Dorota, Skórka, Agata, Posmyk, Renata, Jakubiuk-Tomaszuk, Anna, Cieślikowska, Agata, Chrzanowska, Krystyna H, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Małgorzata

“…Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of developmental delay and congenital anomalies, including characteristic facial,…”
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Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6 , KLF13 and UBR3 Genes to Novel Disease Phenotype by Murcia Pienkowski, Victor, Kucharczyk, Marzena, Rydzanicz, Małgorzata, Poszewiecka, Barbara, Pachota, Katarzyna, Młynek, Marlena, Stawiński, Piotr, Pollak, Agnieszka, Kosińska, Joanna, Wojciechowska, Katarzyna, Lejman, Monika, Cieślikowska, Agata, Wicher, Dorota, Stembalska, Agnieszka, Matuszewska, Karolina, Materna-Kiryluk, Anna, Gambin, Anna, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Płoski, Rafał

“…De novo balanced chromosomal aberrations (BCAs), such as reciprocal translocations and inversions, are genomic aberrations that, in approximately 25% of cases,…”
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11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency by Jurkiewicz, Dorota, Kugaudo, Monika, Tańska, Anna, Wawrzkiewicz‐Witkowska, Angelika, Tomaszewska, Agnieszka, Kucharczyk, Marzena, Cieślikowska, Agata, Ciara, Elżbieta, Krajewska‐Walasek, Małgorzata

“…Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith–Wiedemann syndrome (BWS) and moderate deficiency of factor…”
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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant by Jezela-Stanek, Aleksandra, Kucharczyk, Marzena, Falana, Katarzyna, Jurkiewicz, Dorota, Mlynek, Marlena, Wicher, Dorota, Rydzanicz, Malgorzata, Kugaudo, Monika, Cieslikowska, Agata, Ciara, Elzbieta, Ploski, Rafal, Krajewska-Walasek, Malgorzata

“…Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It…”
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Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication by Kucharczyk, Marzena, Jezela-Stanek, Aleksandra, Gieruszczak-Bialek, Dorota, Kugaudo, Monika, Cieslikowska, Agata, Pelc, Magdalena, Krajewska-Walasek, Malgorzata

“…Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to…”
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11p15 duplication and 13q34 deletion with B eckwith– W iedemann syndrome and factor VII deficiency by Jurkiewicz, Dorota, Kugaudo, Monika, Tańska, Anna, Wawrzkiewicz‐Witkowska, Angelika, Tomaszewska, Agnieszka, Kucharczyk, Marzena, Cieślikowska, Agata, Ciara, Elżbieta, Krajewska‐Walasek, Małgorzata

“…Abstract Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with B eckwith– W iedemann syndrome ( BWS ) and moderate…”
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Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF gene by Ciara, Elżbieta, Pelc, Magdalena, Jurkiewicz, Dorota, Kugaudo, Monika, Gieruszczak-Białek, Dorota, Skórka, Agata, Posmyk, Renata, Jakubiuk-Tomaszuk, Anna, Cieślikowska, Agata, Chrzanowska, Krystyna H, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Małgorzata

“…Abstract Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of developmental delay and congenital anomalies, including characteristic…”
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11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency by Jurkiewicz, Dorota, Kugaudo, Monika, Tańska, Anna, Wawrzkiewicz-Witkowska, Angelika, Tomaszewska, Agnieszka, Kucharczyk, Marzena, Cieślikowska, Agata, Ciara, Elżbieta, Krajewska-Walasek, Małgorzata

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