Germline PTEN mutations are rare and highly penetrant

Autor: Rustad Cecilie F, Bjørnslett Merete, Heimdal Ketil R, Mæhle Lovise, Apold Jaran, Møller Pål

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 4, Iss 4, Pp 177-185 (2006)

Abstract Cowden syndrome (multiple hamartoma syndrome, MIM 158350) is an early onset syndrome characterized by multiple hamartomas in the skin, mucous membranes, breast, thyroid and endometrium. Patients with Cowden syndrome have increased risk of br

Externí odkaz: https://doaj.org/article/f174329eb31540d5b0e7f9e466acc871

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Autor: Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K., Coban Akdemir, Zeynep H., Erichsen, Hans Christian, Forbes, Lisa R., Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Muzny, Donna M., Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K., Noroski, Lenora M., Seeborg, Filiz O., Davis, Carla M., Canter, Debra L., Mace, Emily M., Vece, Timothy J., Allen, Carl E., Abhyankar, Harshal A., Boone, Philip M., Beck, Christine R., Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E., Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F., Abrahamsen, Tore G., Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv T.N., Kulseth, Mari Ann, Prescott, Trine E., Rustad, Cecilie F., Heimdal, Ketil R., Belmont, John W., Rider, Nicholas L., Chinen, Javier, Cao, Tram N., Smith, Eric A., Caldirola, Maria Soledad, Bezrodnik, Liliana, Lugo Reyes, Saul Oswaldo, Espinosa Rosales, Francisco J., Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M., Franco, Jose L., Trujillo Vargas, Claudia M., Aldave Becerra, Juan Carlos, Wright, Nicola, Issekutz, Thomas B., Issekutz, Andrew C., Abbott, Jordan, Caldwell, Jason W., Bayer, Diana K., Chan, Alice Y., Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K., Ehlayel, Mohammad S., Jolles, Stephen, Flatø, Berit, Bertuch, Alison A., Hanson, I. Celine, Zhang, Victor W., Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M., Boerwinkle, Eric, Gibbs, Richard A., Shearer, William T., Lyle, Robert, Orange, Jordan S., Lupski, James R.

Publikováno v: In The Journal of Allergy and Clinical Immunology January 2017 139(1):232-245

Abnormally wide eustachian tubes involving the sphenoid bone: A collection.

Autor: Falkenberg‐Jensen, Benedicte^1,2,3 b-falkenberg@hotmail.com, Heimdal, Ketil R.^2,4, Høgevold, Hans Erik^2,5, Jablonski, Greg E.^3,6, Due‐Tønnessen, Bernt J.^2,7, Hopp, Einar^1,2

Publikováno v: Laryngoscope Investigative Otolaryngology. Jun2018, Vol. 3 Issue 3, p214-217. 4p.

Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families.

Autor: McMaster, Mary L.^1,2, Heimdal, Ketil R.³, Loud, Jennifer T.¹, Bracci, Janet S.⁴, Rosenberg, Philip S.¹, Greene, Mark H.¹

Publikováno v: Cancer Medicine. Jul2015, Vol. 4 Issue 7, p1069-1078. 10p.

Renal Amyloidosis Associated With Five Novel Variants in the Fibrinogen A Alpha Chain Protein

Autor: Rowczenio, Dorota, Stensland, Maria, de Souza, Gustavo A., Strøm, Erik H., Gilbertson, Janet A., Taylor, Graham, Rendell, Nigel, Minogue, Shane, Efebera, Yvonne A., Lachmann, Helen J., Wechalekar, Ashutosh D., Hawkins, Philip N., Heimdal, Ketil R., Selvig, Kristian, Lægreid, Inger K., Demoulin, Nathalie, Gillmore, Julian D., Wien, Tale N.

Publikováno v: Kidney International Reports.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=base_oa_____::8149e80b55ca5921c4ffc22b43f19039