Microdeletion of Target Sites for Insulator Protein CTCF in a Chromosome 11p15 Imprinting Center in Beckwith-Wiedemann Syndrome and Wilms' Tumor

Autor: Prawitt, Dirk, Enklaar, Thorsten, Gärtner-Rupprecht, Barbara, Spangenberg, Christian, Oswald, Monika, Lausch, Ekkehart, Schmidtke, Peter, Reutzel, Dirk, Fees, Stephan, Lucito, Rob, Korzon, Maria, Brozek, Izabela, Limon, Janusz, Housman, David E., Pelletier, Jerry, Zabel, Bernhard

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2005 Mar . 102(11), 4085-4090.

Externí odkaz: https://www.jstor.org/stable/3374870

Mutations spectrum in hereditary disorders predisposing to occurrence of intestine polyposis in Poland

Autor: Plawski Andrzej, Boruń Paweł, Banasiewicz Tomasz, Paszkowski Jacek, Stembalska Agnieszka, Sąsiadek Maria, Siołek Monika, Kozak - Klonowska Beata, Brozek Izabela, Limon Janusz, Nowakowska Dorota, Kurzawski Grzegorz, Byrski Tomasz, Gach Tomasz, Hodorowicz-Zaniewska Diana, Bartkowiak Anna, Slomski Ryszad, Czkwianianc Elżbieta, Linke Krzysztof, Grzybowska Ewa, Lącka-Wojciechowska Arleta, Szwiec Marek, Więcek Sabina, żabka Alicja, Synowiec Agnieszka, Jakubiuk-Tomaszuk Anna, Skalski Robert, Lubinski Jan, Krokowicz Piotr, Blecharz Paweł, Teisseyre Mikołaj, Drews Michal, Cichy Wojciech

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 4, p A24 (2012)

Externí odkaz: https://doaj.org/article/847e9f58cc134b539b409ea6ef91d6cb

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Erratum:Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (American Journal of Medical Genetics 140A, (1726-1736) DOI 10.1002/ajmg.a.31549

Autor: Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Minãur, Sixto, Grix, Arthur, Green, Andrew, Der Kaloustian, Vazken, Lewkonia, Ray, McInnes, Brenda, Van Haelst, Mieke M., Macini, Grazia, Illès, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brozek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah

Publikováno v: Robertson, S P, Jenkins, Z A, Morgan, T, Adès, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Minãur, S, Grix, A, Green, A, Der Kaloustian, V, Lewkonia, R, McInnes, B, Van Haelst, M M, Macini, G, Illès, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C I, Ochman, K, Brozek, I, Shears, D J, Superti-Furga, A, Suri, M, Whiteford, M, Wilkie, A O M & Krakow, D 2006, ' Erratum : Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (American Journal of Medical Genetics 140A, (1726-1736) DOI 10.1002/ajmg.a.31549 ', American Journal of Medical Genetics, Part A, vol. 140, no. 24 . https://doi.org/10.1002/ajmg.a.31322
American Journal of Medical Genetics, Part A, 140(24). Wiley-Liss Inc.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7d5015047a55fe4eede9be7cacdc50cf
https://research.vumc.nl/en/publications/0b218487-ea54-4f71-b217-1ce927e399a7