Identification and characterization of stromal-like cells with CD207 +/low CD1a +/low phenotype derived from histiocytic lesions - a perspective in vitro model for drug testing
Śmieszek, Agnieszka, Marcinkowska, Klaudia, Małas, Zofia, Sikora, Mateusz, Kępska, Martyna, Nowakowska, Beata A, Deperas, Marta, Smyk, Marta, Rodriguez-Galindo, Carlos, Raciborska, Anna
Published in BMC cancer (12.02.2024)
Published in BMC cancer (12.02.2024)
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Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C
Nowakowska, Beata A., Obersztyn, Ewa, Szymańska, Krystyna, Bekiesińska-Figatowska, Monika, Xia, Zhilian, Ricks, Christian B., Bocian, Ewa, Stockton, David W., Szczałuba, Krzysztof, Nawara, Magdalena, Patel, Ankita, Scott, Daryl A., Cheung, Sau Wai, Bohan, Timothy P., Stankiewicz, Paweł
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2010)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2010)
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Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
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
Published in Genes (01.03.2023)
Published in Genes (01.03.2023)
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A catalog of hemizygous variation in 127 22q11 deletion patients
Hestand, Matthew S, Nowakowska, Beata A, Vergaelen, Elfi, Van Houdt, Jeroen, Dehaspe, Luc, Suhl, Joshua A, Del-Favero, Jurgen, Mortier, Geert, Zackai, Elaine, Swillen, Ann, Devriendt, Koenraad, Gur, Raquel E, McDonald-McGinn, Donna M, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R
Published in Human genome variation (14.01.2016)
Published in Human genome variation (14.01.2016)
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Risk of meningomyelocele mediated by the common 22q11.2 deletion
Vong, Keng Ioi, Lee, Sangmoon, Au, Kit Sing, Crowley, T Blaine, Capra, Valeria, Martino, Jeremiah, Haller, Meade, Araújo, Camila, Machado, Hélio R, George, Renee, Gerding, Bryn, James, Kiely N, Stanley, Valentina, Jiang, Nan, Alu, Kameron, Meave, Naomi, Nidhiry, Anna S, Jiwani, Fiza, Tang, Isaac, Nisal, Ashna, Jhamb, Ishani, Patel, Arzoo, Patel, Aakash, McEvoy-Venneri, Jennifer, Barrows, Chelsea, Shen, Celina, Ha, Yoo-Jin, Howarth, Robyn, Strain, Madison, Ashley-Koch, Allison Elizabeth, Azam, Matloob, Mumtaz, Sara, Bot, Gyang Markus, Finnell, Richard H, Kibar, Zoha, Marwan, Ahmed I, Melikishvili, Gia, Meltzer, Hal S, Mutchinick, Osvaldo M, Stevenson, David A, Mroczkowski, Henry J, Ostrander, Betsy, Schindewolf, Erica, Moldenhauer, Julie, Zackai, Elaine H, Emanuel, Beverly S, Garcia-Minaur, Sixto, Nowakowska, Beata A, Stevenson, Roger E, Zaki, Maha S, Northrup, Hope, McNamara, Hanna K, Aldinger, Kimberly A, Phelps, Ian G, Deng, Mei, Glass, Ian A, Morrow, Bernice, McDonald-McGinn, Donna M, Sanna-Cherchi, Simone, Lamb, Dolores J, Gleeson, Joseph G
Published in Science (American Association for the Advancement of Science) (03.05.2024)
Published in Science (American Association for the Advancement of Science) (03.05.2024)
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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, Jerome-Majewska, Loydie A
Published in Journal of medical genetics (01.02.2013)
Published in Journal of medical genetics (01.02.2013)
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Detection of clinically relevant exonic copy-number changes by array CGH
Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., del Gaudio, Daniela, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Published in Human mutation (01.12.2010)
Published in Human mutation (01.12.2010)
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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
NOWAKOWSKA, Beata A, DE LEEUW, Nicole, PFUNDT, Rolph, MIELOO, Hanneke, VAN ESSEN, Ton, DE VRIES, Bert Ba, GREEN, Andrew, REARDON, Willie, FRYNS, Jean-Pierre, VERMEESCH, Joris R, RUIVENKAMP, Claudia Al, SIKKEMA-RADDATZ, Birgit, CROLLA, John A, THOELEN, Reinhilde, KOOPMANS, Marije, DEN HOLLANDER, Nicolette, VAN HAERINGEN, Arie, VAN DER KEVIE-KERSEMAEKERS, Anne-Marie
Published in European journal of human genetics : EJHG (01.02.2012)
Published in European journal of human genetics : EJHG (01.02.2012)
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Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report
Kucinska-Chahwan, Anna M, Roszkowski, Tomasz, Geremek, Maciej, Paczkowska, Magdalena A, Ciebiera, Michal, Bijok, Julia, Massalska, Diana, Panek, Grzegorz, Siemion, Krzysztof, Nowakowska, Beata A
Published in Ginekologia polska (01.01.2021)
Published in Ginekologia polska (01.01.2021)
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Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH
TSAI, Anne Chun-Hui, DOSSETT, Cherilyn J, WALTON, Carol S, CRAMER, Andrea E, ENG, Patti A, NOWAKOWSKA, Beata A, PURSLEY, Amber N, STANKIEWICZ, Pawel, WISZNIEWSKA, Joanna, SAU WAI CHEUNG
Published in European journal of human genetics : EJHG (01.01.2011)
Published in European journal of human genetics : EJHG (01.01.2011)
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The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders
Szymańska, Krystyna, Szczałuba, Krzysztof, Ługowska, Agnieszka, Obersztyn, Ewa, Radkowski, Marek, Nowakowska, Beata A., Kuśmierska, Katarzyna, Tryfon, Jolanta, Demkow, Urszula
Published in BioMed research international (01.01.2014)
Published in BioMed research international (01.01.2014)
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High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate
Szczałuba, Krzysztof, Nowakowska, Beata A., Sobecka, Katarzyna, Smyk, Marta, Castaneda, Jennifer, Dudkiewicz, Zofia, Kutkowska-Kaźmierczak, Anna, Sąsiadek, Maria M., Śmigiel, Robert, Bocian, Ewa
Published in Neonatology (Basel, Switzerland) (01.01.2015)
Published in Neonatology (Basel, Switzerland) (01.01.2015)
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