Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

by Jamsheer, Aleksander, Sowińska, Anna, Kaczmarek, Leszek, Latos-Bieleńska, Anna
Published 2012

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

by Jamsheer, Aleksander, Sowińska, Anna, Simon, Dorota, Jamsheer-Bratkowska, Małgorzata, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Published 2013

Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations

by Jamsheer, Aleksander, Sowińska, Anna, Trzeciak, Tomasz, Jamsheer-Bratkowska, Małgorzata, Geppert, Anita, Latos-Bieleńska, Anna
Published 2012

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

by Jamsheer, Aleksander, Socha, Magdalena, Sowińska-Seidler, Anna, Telega, Kinga, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Published 2014

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

by Sowińska-Seidler, Anna, Piwecka, Monika, Olech, Ewelina, Socha, Magdalena, Latos-Bieleńska, Anna, Jamsheer, Aleksander
Published 2014

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

by Winczewska-Wiktor, Anna, Badura-Stronka, Magdalena, Monies-Nowicka, Anna, Nowicki, Michal Maciej, Steinborn, Barbara, Latos-Bieleńska, Anna, Monies, Dorota
Published 2016

Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM)

by Materna-Kiryluk, Anna, Jamsheer, Aleksander, Wisniewska, Katarzyna, Wieckowska, Barbara, Limon, Janusz, Borszewska-Kornacka, Maria, Sawulicka-Oleszczuk, Henryka, Szwalkiewicz-Warowicka, Ewa, Latos-Bielenska, Anna
Published 2013

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

by Dolk, Helen, Wang, Hao, Loane, Maria, Morris, Joan, Garne, Ester, Addor, Marie-Claude, Arriola, Larraitz, Bakker, Marian, Barisic, Ingeborg, Doray, Berenice, Gatt, Miriam, Kallen, Karin, Khoshnood, Babak, Klungsoyr, Kari, Lahesmaa-Korpinen, Anna-Maria, Latos-Bielenska, Anna, Mejnartowicz, Jan P., Nelen, Vera, Neville, Amanda, O'Mahony, Mary, Pierini, Anna, Rißmann, Anke, Tucker, David, Wellesley, Diana, Wiesel, Awi, de Jong-van den Berg, Lolkje T.W.
Published 2016

EUROmediCAT signal detection: an evaluation of selected congenital anomaly‐medication associations

by Given, Joanne E., Loane, Maria, Luteijn, Johannes M., Morris, Joan K., de Jong van den Berg, Lolkje T.W., Garne, Ester, Addor, Marie‐Claude, Barisic, Ingeborg, de Walle, Hermien, Gatt, Miriam, Klungsoyr, Kari, Khoshnood, Babak, Latos‐Bielenska, Anna, Nelen, Vera, Neville, Amanda J., O'Mahony, Mary, Pierini, Anna, Tucker, David, Wiesel, Awi, Dolk, Helen
Published 2016

Long term trends in prevalence of neural tube defects in Europe: population based study

by Khoshnood, Babak, Loane, Maria, de Walle, Hermien, 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 2015