From chromosomal aberrations to mutations in individual genes – the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages
Matuszewska, Karolina Ewa, Bukowska-Olech, Ewelina, Piechota, Michał, Staniek-Łacna, Katarzyna, Drews, Krzysztof, Więckowska, Barbara, Koczyk, Grzegorz, Popiel, Delfina, Dawidziuk, Adam, Kochalska, Natalia, Milanowska, Katarzyna, Białek-Prościńska, Agnieszka, Skrzypczak, Jana, Hirschfeld, Adam Sebastian, Wnuk-Kłosińska, Aleksandra, Wiśniewska, Marzena, Jamsheer, Aleksander, Latos-Bieleńska, Anna
Published in The journal of maternal-fetal & neonatal medicine (02.01.2024)
Published in The journal of maternal-fetal & neonatal medicine (02.01.2024)
Get full text
Journal Article
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome
Jakubiak, Aleksandra, Szczałuba, Krzysztof, Badura-Stronka, Magdalena, Kutkowska-Kaźmierczak, Anna, Jakubiuk-Tomaszuk, Anna, Chilarska, Tatiana, Pilch, Jacek, Braun-Walicka, Natalia, Castaneda, Jennifer, Wołyńska, Katarzyna, Wiśniewska, Marzena, Kugaudo, Monika, Bielecka, Monika, Pesz, Karolina, Wierzba, Jolanta, Latos-Bieleńska, Anna, Obersztyn, Ewa, Krajewska-Walasek, Małgorzata, Śmigiel, Robert
Published in Journal of applied genetics (01.09.2021)
Published in Journal of applied genetics (01.09.2021)
Get full text
Journal Article
Long-term changes in the phytoplankton of Lake Charzykowskie
Winiewska, Marzena, Luciska, Marta
Published in Oceanological and hydrobiological studies (01.09.2012)
Published in Oceanological and hydrobiological studies (01.09.2012)
Get full text
Journal Article
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
Get full text
Journal Article
A new case of DOOR syndrome
Wiśniewska, Marzena, Siwińska, Zofia, Felczak, Michał, Wielkoszyński, Tomasz, Krawczyński, Maciej, Latos-Bieleńska, Anna
Published in Journal of applied genetics (01.01.2008)
Published in Journal of applied genetics (01.01.2008)
Get full text
Journal Article
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
Get full text
Journal Article
Chromosome deletions in 13q33-34: Report of four patients and review of the literature
Walczak-Sztulpa, Joanna, Wisniewska, Marzena, Latos-Bielenska, Anna, Linné, Maja, Kelbova, Christina, Belitz, Britta, Pfeiffer, Lutz, Kalscheuer, Vera, Erdogan, Fikret, Kuss, Andreas W., Ropers, Hans-Hilger, Ullmann, Reinhard, Tzschach, Andreas
Published in American journal of medical genetics. Part A (01.02.2008)
Published in American journal of medical genetics. Part A (01.02.2008)
Get full text
Journal Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
BUDNY, Bartlomiej, WEI CHEN, LENZNER, Steffen, LATOS-BIELENSKA, Anna, ROPERS, Hans-Hilger, OMRAN, Heymut, FLIEGAUF, Manfred, TZSCHACH, Andreas, WISNIEWSKA, Marzena, JENSEN, Lar R, RAYNAUD, Martine, SHOICHET, Sarah A, BADURA, Magda
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
Get full text
Journal Article
Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
Wozniak, Anna, Wolnik-Brzozowska, Danuta, Wisniewska, Marzena, Glazar, Renata, Materna-Kiryluk, Anna, Moszura, Tomasz, Badura-Stronka, Magdalena, Skolozdrzy, Joanna, Krawczynski, Maciej R, Zeyland, Joanna, Bobkowski, Waldemar, Slomski, Ryszard, Latos-Bielenska, Anna, Siwinska, Aldona
Published in BMC pediatrics (06.12.2010)
Published in BMC pediatrics (06.12.2010)
Get full text
Journal Article
The genetic basis of DOORS syndrome: an exome-sequencing study
Campeau, Philippe M, MD, Kasperaviciute, Dalia, PhD, Lu, James T, PhD, Burrage, Lindsay C, PhD, Kim, Choel, PhD, Hori, Mutsuki, MD, Powell, Berkley R, MD, Stewart, Fiona, MBBS, Félix, Têmis Maria, PhD, van den Ende, Jenneke, MD, Wisniewska, Marzena, PhD, Kayserili, Hülya, MD, Rump, Patrick, PhD, Nampoothiri, Sheela, MSc, Aftimos, Salim, MD, Mey, Antje, MD, Nair, Lal D V, MD, Begleiter, Michael L, MSc, De Bie, Isabelle, PhD, Meenakshi, Girish, MBBS, Murray, Mitzi L, MD, Repetto, Gabriela M, MD, Golabi, Mahin, MD, Blair, Edward, MD, Male, Alison, MD, Giuliano, Fabienne, MD, Kariminejad, Ariana, MD, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, PhD, Wieczorek, Dagmar, MD, Tostevin, Anna, MSc, Wiszniewska, Joanna, MD, Cheung, Sau Wai, Prof, Hennekam, Raoul C, Prof, Gibbs, Richard A, Prof, Lee, Brendan H, Prof, Sisodiya, Sanjay M, Prof
Published in Lancet neurology (2014)
Published in Lancet neurology (2014)
Get full text
Journal Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Budny, Bartlomiej, Chen, Wei, Omran, Heymut, Fliegauf, Manfred, Tzschach, Andreas, Wisniewska, Marzena, Jensen, Lars R, Raynaud, Martine, Shoichet, Sarah A, Badura, Magda, Lenzner, Steffen, Latos-Bielenska, Anna, Ropers, Hans-Hilger
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
Get full text
Journal Article
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Kumar, Raman, Corbett, Mark A, Van Bon, Bregje W M, Gardner, Alison, Woenig, Joshua A, Jolly, Lachlan A, Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, Martine, Field, Michael, Leffler, Melanie, Budny, Bartłomiej, Wisniewska, Marzena, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Batanian, Jacqueline, Rosenfeld, Jill A, Basel-Vanagaite, Lina, Jensen, Corinna, Bienek, Melanie, Froyen, Guy, Ullmann, Reinhard, Hu, Hao, Love, Michael I, Haas, Stefan A, Stankiewicz, Pawel, Cheung, Sau Wai, Baxendale, Anne, Nicholl, Jillian, Thompson, Elizabeth M, Haan, Eric, Kalscheuer, Vera M, Gecz, Jozef
Published in Human molecular genetics (20.12.2015)
Published in Human molecular genetics (20.12.2015)
Get full text
Journal Article
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly
Dawidziuk, Mateusz, Gambin, Tomasz, Bukowska-Olech, Ewelina, Antczak-Marach, Dorota, Badura-Stronka, Magdalena, Buda, Piotr, Budzynska, Edyta, Castaneda, Jennifer, Chilarska, Tatiana, Czyzyk, Elzbieta, Eckersdorf-Mastalerz, Anna, Fijak-Moskal, Jolanta, Gieruszczak-Bialek, Dorota, Glodek-Brzozowska, Ewelina, Goszczanska-Ciuchta, Alicja, Grzeszykowska-Podymniak, Malgorzata, Gurda, Barbara, Jakubiuk-Tomaszuk, Anna, Jamroz, Ewa, Janeczko, Magdalena, Jedlińska-Pijanowska, Dominika, Jurek, Marta, Karolewska, Dagmara, Kazmierczak, Adela, Kleist, Teresa, Kochanowska, Iwona, Krajewska-Walasek, Malgorzata, Kufel, Katarzyna, Kutkowska-Kaźmierczak, Anna, Lipiec, Agata, Maksym-Gasiorek, Dorota, Materna-Kiryluk, Anna, Mazurkiewicz, Hanna, Milewski, Michał, Pavina-Guglas, Tatsiana, Pietrzyk, Aleksandra, Posmyk, Renata, Pyrkosz, Antoni, Rudzka-Dybala, Mariola, Slezak, Ryszard, Wisniewska, Marzena, Zalewska-Miszkurka, Zofia, Szczepanik, Elzbieta, Obersztyn, Ewa, Bekiesinska-Figatowska, Monika, Gawlinski, Pawel, Wiszniewski, Wojciech
Published in Genes (18.12.2021)
Published in Genes (18.12.2021)
Get full text
Journal Article
A familial X/Y translocation: cytogenetic and molecular study
Kusz, K, Wojda, A, Wiśniewska, M, Latos-Bieleńska, A, Jaruzelska, J
Published in Journal of applied genetics (2001)
Get more information
Published in Journal of applied genetics (2001)
Journal Article