Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene

Por Ratnam, Kavitha, Västinsalo, Hanna, Roorda, Austin, Sankila, Eeva-Marja K., Duncan, Jacque L.
Publicado no JAMA Ophthalmol (2013)

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A

Por Phillips, Jennifer B., Västinsalo, Hanna, Wegner, Jeremy, Clément, Aurélie, Sankila, Eeva-Marja, Westerfield, Monte
Publicado em 2013

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane

Por Isosomppi, Juha, Västinsalo, Hanna, Geller, Scott F., Heon, Elise, Flannery, John G., Sankila, Eeva-Marja
Publicado em 2009

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

Por Västinsalo, Hanna, Jalkanen, Reetta, Dinculescu, Astra, Isosomppi, Juha, Geller, Scott, Flannery, John G, Hauswirth, William W, Sankila, Eeva-Marja
Publicado em 2011

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Por Joensuu, Tarja, Hämäläinen, Riikka, Yuan, Bo, Johnson, Cheryl, Tegelberg, Saara, Gasparini, Paolo, Zelante, Leopoldo, Pirvola, Ulla, Pakarinen, Leenamaija, Lehesjoki, Anna-Elina, la Chapelle, Albert de, Sankila, Eeva-Marja
Publicado em 2001

Clarin-1, Encoded by the Usher Syndrome III Causative Gene, Forms a Membranous Microdomain: POSSIBLE ROLE OF CLARIN-1 IN ORGANIZING THE ACTIN CYTOSKELETON

Por Tian, Guilian, Zhou, Yun, Hajkova, Dagmar, Miyagi, Masaru, Dinculescu, Astra, Hauswirth, William W., Palczewski, Krzysztof, Geng, Ruishuang, Alagramam, Kumar N., Isosomppi, Juha, Sankila, Eeva-Marja, Flannery, John G., Imanishi, Yoshikazu
Publicado em 2009

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

Por Cremers, Frans P. M., Sankila, Eeva-Marja, Brunsmann, Frank, Jay, Marcelle, Jay, Barrie, Wright, Alan, Pinckers, Alfred J. L. G., Schwartz, Marianne, van de Pol, Dorien J. R., Wieringa, Bé, de la Chapelle, Albert, Pawlowitzki, Ivar H., Ropers, Hans-Hilger
Publicado em 1990

CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development

Por Geller, Scott F., Guerin, Karen I., Visel, Meike, Pham, Aaron, Lee, Edwin S., Dror, Amiel A., Avraham, Karen B., Hayashi, Toshinori, Ray, Catherine A., Reh, Thomas A., Bermingham-McDonogh, Olivia, Triffo, William J., Bao, Shaowen, Isosomppi, Juha, Västinsalo, Hanna, Sankila, Eeva-Marja, Flannery, John G.
Publicado em 2009

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Por Tommiska, Johanna, Känsäkoski, Johanna, Skibsbye, Lasse, Vaaralahti, Kirsi, Liu, Xiaonan, Lodge, Emily J., Tang, Chuyi, Yuan, Lei, Fagerholm, Rainer, Kanters, Jørgen K., Lahermo, Päivi, Kaunisto, Mari, Keski-Filppula, Riikka, Vuoristo, Sanna, Pulli, Kristiina, Ebeling, Tapani, Valanne, Leena, Sankila, Eeva-Marja, Kivirikko, Sirpa, Lääperi, Mitja, Casoni, Filippo, Giacobini, Paolo, Phan-Hug, Franziska, Buki, Tal, Tena-Sempere, Manuel, Pitteloud, Nelly, Veijola, Riitta, Lipsanen-Nyman, Marita, Kaunisto, Kari, Mollard, Patrice, Andoniadou, Cynthia L., Hirsch, Joel A., Varjosalo, Markku, Jespersen, Thomas, Raivio, Taneli
Publicado no Nat Commun (2017)

Development of a genotyping microarray for Usher syndrome

Por Cremers, Frans P M, Kimberling, William J, Külm, Maigi, de Brouwer, Arjan P, van Wijk, Erwin, te Brinke, Heleen, Cremers, Cor W R J, Hoefsloot, Lies H, Banfi, Sandro, Simonelli, Francesca, Fleischhauer, Johannes C, Berger, Wolfgang, Kelley, Phil M, Haralambous, Elene, Bitner‐Glindzicz, Maria, Webster, Andrew R, Saihan, Zubin, De Baere, Elfride, Leroy, Bart P, Silvestri, Giuliana, McKay, Gareth J, Koenekoop, Robert K, Millan, Jose M, Rosenberg, Thomas, Joensuu, Tarja, Sankila, Eeva‐Marja, Weil, Dominique, Weston, Mike D, Wissinger, Bernd, Kremer, Hannie
Publicado em 2007