Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35
Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Stańczyk, Małgorzata, Pesz, Karolina, Dudarewicz, Lech, Chrul, Sławomir, Bukowska‐Olech, Ewelina, Wieczorek‐Cichecka, Nina, Arts, Heleen H., Oud, Machteld M., Śmigiel, Robert, Grenda, Ryszard, Obersztyn, Ewa, Chrzanowska, Krystyna H., Latos‐Bieleńska, Anna
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
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EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomalies
Morris, Joan K, Garne, Ester, Loane, Maria, Barisic, Ingeborg, Densem, James, Latos-Bieleńska, Anna, Neville, Amanda, Pierini, Anna, Rankin, Judith, Rissmann, Anke, de Walle, Hermien, Tan, Joachim, Given, Joanne Emma, Claridge, Hugh
Published in BMJ open (28.06.2021)
Published in BMJ open (28.06.2021)
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Clinical heterogeneity of polish patients with KAT6B–related disorder
Magdalena, Klaniewska, Anna, Bolanowska‐Tyszko, Anna, Latos‐Bielenska, Aleksandra, Jezela‐Stanek, Krzysztof, Szczaluba, Malgorzata, Krajewska‐Walasek, Elzbieta, Ciara, Magdalena, Pelc, Dorota, Jurkiewicz, Piotr, Stawinski, Agnieszka, Zubkiewicz‐Kucharska, Małgorzata, Rydzanicz, Rafal, Ploski, Robert, Smigiel
Published in Molecular genetics & genomic medicine (01.12.2023)
Published in Molecular genetics & genomic medicine (01.12.2023)
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Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35
Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Leszczynska, Beata, Mikulska, Boyana, Arts, Heleen H., Bukowska‐Olech, Ewelina, Daniel, Maria, Krawczynski, Maciej R., Latos‐Bielenska, Anna, Obersztyn, Ewa
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
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Amniotic band syndrome and limb body wall complex in Europe 1980–2019
Bergman, Jorieke E. H., Barišić, Ingeborg, Addor, Marie‐Claude, Braz, Paula, Cavero‐Carbonell, Clara, Draper, Elizabeth S., Echevarría‐González‐de‐Garibay, Luis J., Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsøyr, Kari, Kurinczuk, Jennifer J., Latos‐Bielenska, Anna, Luyt, Karen, Martin, Danielle, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., O'Mahony, Mary T., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Sayers, Gerardine, Schaub, Bruno, Stevens, Sarah, Tucker, David, Verellen‐Dumoulin, Christine, Wiesel, Awi, Gerkes, Erica H., Perraud, Annie, Loane, Maria A., Wellesley, Diana, Walle, Hermien E. K.
Published in American journal of medical genetics. Part A (01.04.2023)
Published in American journal of medical genetics. Part A (01.04.2023)
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FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
Badura‐Stronka, Magdalena, Śmigiel, Robert, Rutkowska, Karolina, Szymańska, Krystyna, Hirschfeld, Adam Sebastian, Monkiewicz, Michał, Kosińska, Joanna, Wolańska, Ewelina, Rydzanicz, Małgorzata, Latos‐Bieleńska, Anna, Płoski, Rafał
Published in Molecular genetics & genomic medicine (01.04.2022)
Published in Molecular genetics & genomic medicine (01.04.2022)
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COVID-19 and children with congenital anomalies: a European survey of parents’ experiences of healthcare services
Latos-Bieleńska, Anna, Marcus, Elena, Jamry-Dziurla, Anna, Rankin, Judith, Barisic, Ingeborg, Cavero- Carbonell, Clara, Den Hond, Elly, Garne, Ester, Genard, Lucas, João Santos, Ana, Lutke, L Renée, Matias Dias, Carlos, Neergaard Pedersen, Christina, Neville, Amanda, Niemann, Annika, Odak, Ljubica, Páramo-Rodríguez, Lucía, Pierini, Anna, Rissmann, Anke, Morris, Joan K
Published in BMJ open (19.07.2022)
Published in BMJ open (19.07.2022)
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Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations
Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Sobierajewicz, Agata, Kuszel, Lukasz, Zawadzki, Jan, Grenda, Ryszard, Swiader‐Lesniak, Anna, Kocyla‐Karczmarewicz, Beata, Wnuk, Anna, Latos‐Bielenska, Anna, Chrzanowska, Krystyna H.
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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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)
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Parental age as a risk factor for isolated congenital malformations in a Polish population
Materna-Kiryluk, Anna, Wiśniewska, Katarzyna, Badura-Stronka, Magdalena, Mejnartowicz, Jan, Wiȩckowska, Barbara, Balcar-Boroń, Anna, Czerwionka-Szaflarska, Mieczyslawa, Gajewska, Elzbieta, Godula-Stuglik, Urszula, Krawczyński, Marian, Limon, Janusz, Rusin, Jozef, Sawulicka-Oleszczuk, Henryka, Szwalkiewicz-Warowicka, Ewa, Walczak, Mieczyslaw, Latos-Bieleńska, Anna
Published in Paediatric and perinatal epidemiology (01.01.2009)
Published in Paediatric and perinatal epidemiology (01.01.2009)
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Maternal risk factors for the VACTERL association: A EUROCAT case–control study
Putte, Romy, Rooij, Iris A.L.M., Haanappel, Cynthia P., Marcelis, Carlo L.M., Brunner, Han G., Addor, Marie‐Claude, Cavero‐Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Khoshnood, Babak, Kinsner‐Ovaskainen, Agnieszka, Klungsoyr, Kari, Kurinczuk, Jenny J., Latos‐Bielenska, Anna, Luyt, Karen, O'Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak‐Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, Walle, Hermien E.K., Bergman, Jorieke E.H., Roeleveld, Nel
Published in Birth defects research (15.05.2020)
Published in Birth defects research (15.05.2020)
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Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
Jamsheer, Aleksander, Sowińska, Anna, Kaczmarek, Leszek, Latos-Bieleńska, Anna
Published in BMC medical genetics (10.01.2012)
Published in BMC medical genetics (10.01.2012)
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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)
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Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
Melo, Uirá Souto, Schöpflin, Robert, Acuna-Hidalgo, Rocio, Mensah, Martin Atta, Fischer-Zirnsak, Björn, Holtgrewe, Manuel, Klever, Marius-Konstantin, Türkmen, Seval, Heinrich, Verena, Pluym, Ilina Datkhaeva, Matoso, Eunice, Bernardo de Sousa, Sérgio, Louro, Pedro, Hülsemann, Wiebke, Cohen, Monika, Dufke, Andreas, Latos-Bieleńska, Anna, Vingron, Martin, Kalscheuer, Vera, Quintero-Rivera, Fabiola, Spielmann, Malte, Mundlos, Stefan
Published in American journal of human genetics (04.06.2020)
Published in American journal of human genetics (04.06.2020)
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Long term trends in prevalence of neural tube defects in Europe: population based study
Khoshnood, Babak, Loane, Maria, Walle, Hermien de, Arriola, Larraitz, Addor, Marie-Claude, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Dias, Carlos, Draper, Elizabeth, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Klungsoyr, Kari, Latos-Bielenska, Anna, Lynch, Catherine, McDonnell, Bob, Nelen, Vera, Neville, Amanda J, O’Mahony, Mary T, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Ritvanen, Annukka, Rounding, Catherine, Sipek, Antonin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Dolk, Helen
Published in BMJ (Online) (24.11.2015)
Published in BMJ (Online) (24.11.2015)
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Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study
McGivern, Mark R, Best, Kate E, Rankin, Judith, Wellesley, Diana, Greenlees, Ruth, Addor, Marie-Claude, Arriola, Larraitz, de Walle, Hermien, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Calzolari, Elisa, Doray, Berenice, Draper, Elizabeth S, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Latos-Bielenska, Anna, O'Mahony, Mary, Braz, Paula, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, Queisser-Luft, Anette, Randrianaivo, Hanitra, Rissmann, Anke, Rounding, Catherine, Sipek, Antonin, Thompson, Rosie, Tucker, David, Wertelecki, Wladimir, Martos, Carmen
Published in Archives of disease in childhood. Fetal and neonatal edition (01.03.2015)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.03.2015)
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Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Małunowicz, Ewa, Chrzanowska, Krystyna, Latos-Bieleńska, Anna, Krajewska-Walasek, Małgorzata
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
Loane, Maria, Morris, Joan K, Addor, Marie-Claude, Arriola, Larraitz, Budd, Judith, Doray, Berenice, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsøyr Melve, Kari, Latos-Bielenska, Anna, McDonnell, Bob, Mullaney, Carmel, O'Mahony, Mary, Queisser-Wahrendorf, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Salvador, Joaquin, Tucker, David, Wellesley, Diana, Yevtushok, Lyubov, Dolk, Helen
Published in European journal of human genetics : EJHG (01.01.2013)
Published in European journal of human genetics : EJHG (01.01.2013)
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Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family
Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Published in BMC medical genetics (09.07.2010)
Published in BMC medical genetics (09.07.2010)
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Schöpflin, Robert, Melo, Uirá Souto, Moeinzadeh, Hossein, Heller, David, Laupert, Verena, Hertzberg, Jakob, Holtgrewe, Manuel, Alavi, Nico, Klever, Marius-Konstantin, Jungnitsch, Julius, Comak, Emel, Türkmen, Seval, Horn, Denise, Duffourd, Yannis, Faivre, Laurence, Callier, Patrick, Sanlaville, Damien, Zuffardi, Orsetta, Tenconi, Romano, Kurtas, Nehir Edibe, Giglio, Sabrina, Prager, Bettina, Latos-Bielenska, Anna, Vogel, Ida, Bugge, Merete, Tommerup, Niels, Spielmann, Malte, Vitobello, Antonio, Kalscheuer, Vera M., Vingron, Martin, Mundlos, Stefan
Published in Nature communications (29.10.2022)
Published in Nature communications (29.10.2022)
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