WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy
Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Sikora, Weronika, Pawlak, Marta, Bukowska‐Olech, Ewelina, Kopaczewski, Bartłomiej, Urzykowska, Agnieszka, Arts, Heleen H., Gotz‐Więckowska, Anna, Grenda, Ryszard, Latos‐Bieleńska, Anna, Glazar, Renata
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
Get full text
Journal Article
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia
Hordyjewska‐Kowalczyk, Ewa, Sowińska‐Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Glazar, Renata, Kruczek, Anna, Latos‐Bieleńska, Anna, Tylzanowski, Przemko, Jamsheer, Aleksander
Published in Clinical genetics (01.11.2019)
Published in Clinical genetics (01.11.2019)
Get full text
Journal Article
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Bonthron, David T, Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Biele ska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P
Published in Nature genetics (01.06.2008)
Published in Nature genetics (01.06.2008)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report
Winczewska-Wiktor, Anna, Badura-Stronka, Magdalena, Monies-Nowicka, Anna, Nowicki, Michal Maciej, Steinborn, Barbara, Latos-Bieleńska, Anna, Monies, Dorota
Published in BMC neurology (12.03.2016)
Published in BMC neurology (12.03.2016)
Get full text
Journal Article
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.
Published in Frontiers in genetics (07.07.2022)
Published in Frontiers in genetics (07.07.2022)
Get full text
Journal Article
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)
Get full text
Journal Article
Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe
Barisic, Ingeborg, Boban, Ljubica, Akhmedzhanova, Diana, Bergman, Jorieke E.H., Cavero-Carbonell, Clara, Grinfelde, Ieva, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Randrianaivo, Hanitra, Zymak-Zakutnya, Natalya, Sansovic, Ivona, Lanzoni, Monica, Morris, Joan K.
Published in European journal of medical genetics (01.09.2018)
Published in European journal of medical genetics (01.09.2018)
Get full text
Journal Article
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families
Sowińska-Seidler, Anna, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Stronka, Michał, Jamsheer, Aleksander
Published in Birth defects research. A Clinical and molecular teratology (01.10.2014)
Published in Birth defects research. A Clinical and molecular teratology (01.10.2014)
Get more information
Journal Article
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)
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
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia
Kusz-Zamelczyk, Kamila, Sajek, Marcin, Spik, Anna, Glazar, Renata, Jędrzejczak, Piotr, Latos-Bieleńska, Anna, Kotecki, Maciej, Pawelczyk, Leszek, Jaruzelska, Jadwiga
Published in Journal of medical genetics (01.03.2013)
Published in Journal of medical genetics (01.03.2013)
Get full text
Journal Article
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)
Get full text
Journal Article
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants
Walczak-Sztulpa, Joanna, Wawrocka, Anna, Kuszel, Łukasz, Pietras, Paulina, Leśniczak-Staszak, Marta, Andrusiewicz, Mirosław, Krawczyński, Maciej R, Latos-Bieleńska, Anna, Pawlak, Marta, Grenda, Ryszard, Materna-Kiryluk, Anna, Oud, Machteld M, Szaflarski, Witold
Published in Frontiers in molecular biosciences (2023)
Published in Frontiers in molecular biosciences (2023)
Get full text
Journal Article