Curcumin facilitates a transitory cellular stress response in Trembler-J mice von Okamoto, Yuji, Pehlivan, Davut, Wiszniewski, Wojciech, Beck, Christine R, Snipes, G Jackson, Lupski, James R, Khajavi, Mehrdad

Volltext

Mutation in the Class II trans-Activator Leading to a Mild Immunodeficiency von Wiszniewski, Wojciech, Fondaneche, Marie-Claude, Le Deist, Francoise, Kanariou, Maria, Selz, Francoise, Brousse, Nicole, Steimle, Viktor, Barbieri, Giovanna, Alcaide-Loridan, Catherine, Charron, Dominique, Fischer, Alain, Lisowska-Grospierre, Barbara

Volltext

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study von Snoeckx, Rikkert L., Huygen, Patrick L.M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W.R.J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J.H., Van Camp, Guy

Volltext

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies von Wiszniewski, W., Zaremba, C.M., Yatsenko, A.N., Jamrich, M., Wensel, T.G., Lewis, R.A., Lupski, J.R.

Volltext

Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants von Khajavi, Mehrdad, Inoue, Ken, Wiszniewski, Wojciech, Ohyama, Tomoko, Snipes, G. Jackson, Lupski, James R.

Volltext

Defective class II transactivator expression in a B lymphoma cell line von Prod'homme, T, Drénou, B, De Ruyffelaere, C, Barbieri, G, Wiszniewski, W, Bastard, C, Charron, D, Alcaide-Loridan, C

Volltext

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia von Wat, Margaret J, Enciso, Victoria B, Wiszniewski, Wojciech, Resnick, Trevor, Bader, Patricia, Roeder, Elizabeth R, Freedenberg, Debra, Brown, Chester, Stankiewicz, Pawel, Cheung, Sau-Wai, Scott, Daryl A

Volltext

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies von Wiszniewski, Wojciech, Zaremba, Charles M., Yatsenko, Alexander N., Jamrich, Milan, Wensel, Theodore G., Lewis, Richard Alan, Lupski, James R.

Volltext

Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B von Wiszniewski, W, Fondaneche, M C, Lambert, N, Masternak, K, Picard, C, Notarangelo, L, Schwartz, K, Bal, J, Reith, W, Alcaide, C, de Saint Basile, G, Fischer, A, Lisowska-Grospierre, B

Volltext

SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation von Saifi, Gulam Mustafa, Szigeti, Kinga, Wiszniewski, Wojciech, Shy, Michael E., Krajewski, Karen, Hausmanowa‐Petrusewicz, Irena, Kochanski, Andrzej, Reeser, Suzanne, Mancias, Pedro, Butler, Ian, Lupski, James R.

Volltext

A comparative study of the on-off switching behavior of metal-insulator-metal antifuses von Li, W.T., McKenzie, D.R., Wiszniewski, W.

Volltext

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of unlparental disomy 14 von Wiszniewski, W, Lewis, R A, Lupski, J R

Volltext

Mechanical light modulator fabricated on a silicon chip using SIMOX technology von Wiszniewski, W.R., Collins, R.E., Pailthorpe, B.A.

Volltext

Evolution of ABCA4 proteins in vertebrates von Yatsenko, Alexander N, Wiszniewski, Wojciech, Zaremba, Charles M, Jamrich, Milan, Lupski, James R

Volltext

Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II von Wiszniewski, Wojciech, Fondaneche, Marie-Claude, Louise-Plence, Pascale, Prochnicka-Chalufour, Ada, Selz, Françoise, Picard, Cappucine, Le Deist, Françoise, Eliaou, Jean-François, Fischer, Alain, Lisowska-Grospierre, Barbara

Volltext

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency von Dziembowska, Magda, Fondaneche, Marie-Claude, Vedrenne, Jocelyn, Barbieri, Giovanna, Wiszniewski, Wojciech, Picard, Capucine, Cant, Andrew J, Steimle, Viktor, Charron, Dominique, Alca-Loridan, Catherine, Fischer, Alain, Lisowska-Grospierre, Barbara

Volltext

Refined Genetic and Physical Localization of the Wagner Disease (WGN1) Locus and the Genes CRTL1 and CSPG2 to a 2- to 2.5-cM Region of Chromosome 5q14.3 von Perveen, Rahat, Hart-Holden, Niki, Dixon, Michael J., Wiszniewski, Wojtek, Fryer, Alan E., Brunner, Han G., Pinkners, Alfred J.L.H., van Beersum, Sylvie E.C., Black, Graeme C.M.

Volltext

A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14 von Black, Graeme C.M, Perveen, Rahat, Wiszniewski, Wojtek, Dodd, Christopher L, Donnai, Dian, McLeod, David

Volltext

High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness von Wiszniewski, W, Sobieszczanska-Radoszewska, L, Nowakowska-Szyrwinska, E, Obersztyn, E, Bal, J

Volltext

Mutation in the Class II trans -Activator Leading to a Mild Immunodeficiency von Wiszniewski, Wojciech, Fondaneche, Marie-Claude, Le Deist, Françoise, Kanariou, Maria, Selz, Françoise, Brousse, Nicole, Steimle, Viktor, Barbieri, Giovanna, Alcaide-Loridan, Catherine, Charron, Dominique, Fischer, Alain, Lisowska-Grospierre, Barbara

Volltext