Your search returned 131 results.

Results
	101.	BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. [electronic resource] by Deveault, Catherine Billingsley, Gail Duncan, Jacque L Bin, Jenea Theal, Rebecca Vincent, Ajoy Fieggen, Karen J Gerth, Christina Noordeh, Nima Traboulsi, Elias I Fishman, Gerald A Chitayat, David Knueppel, Tanja Millán, José M Munier, Francis L Kennedy, Debra Jacobson, Samuel G Innes, A Micheil Mitchell, Grant A Boycott, Kym Héon, Elise Producer: 20110919 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes. [electronic resource] by Nesmith, Jessica E Hostelley, Timothy L Leitch, Carmen C Matern, Maggie S Sethna, Saumil McFarland, Rebecca Lodh, Sukanya Westlake, Christopher J Hertzano, Ronna Ahmed, Zubair M Zaghloul, Norann A Producer: 20200330 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. [electronic resource] by Fendler, W Borowiec, M Baranowska-Jazwiecka, A Szadkowska, A Skala-Zamorowska, E Deja, G Jarosz-Chobot, P Techmanska, I Bautembach-Minkowska, J Mysliwiec, M Zmyslowska, A Pietrzak, I Malecki, M T Mlynarski, W Producer: 20130307 In: Diabetologia vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Loss of caspase-8 expression does not correlate with MYCN amplification, aggressive disease, or prognosis in neuroblastoma. [electronic resource] by Fulda, Simone Poremba, Christopher Berwanger, Bernd Häcker, Sabine Eilers, Martin Christiansen, Holger Hero, Barbara Debatin, Klaus-Michael Producer: 20061204 In: Cancer research vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. [electronic resource] by Lindsey, Spencer Brewer, Carmen Stakhovskaya, Olga Kim, Hung Jeffrey Zalewski, Chris Bryant, Joy King, Kelly A Naggert, Jürgen K Gahl, William A Marshall, Jan D Gunay-Aygun, Meral Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [electronic resource] by Collin, Gayle B Marshall, Jan D King, Benjamin L Milan, Gabriella Maffei, Pietro Jagger, Daniel J Naggert, Jürgen K Producer: 20121022 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Advances in the genetics of eye diseases. [electronic resource] by Chan, Stephanie Freund, Paul R MacDonald, Ian Producer: 20140716 In: Current opinion in pediatrics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Infected cell killing by HIV-1 protease promotes NF-kappaB dependent HIV-1 replication. [electronic resource] by Bren, Gary D Whitman, Joe Cummins, Nathan Shepard, Brett Rizza, Stacey A Trushin, Sergey A Badley, Andrew D Producer: 20080828 In: PloS one vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis. [electronic resource] by Zulato, Elisabetta Favaretto, Francesca Veronese, Caterina Campanaro, Stefano Marshall, Jan D Romano, Sara Cabrelle, Anna Collin, Gayle B Zavan, Barbara Belloni, Anna S Rampazzo, Enrica Naggert, Jürgen K Abatangelo, Giovanni Sicolo, Nicola Maffei, Pietro Milan, Gabriella Vettor, Roberto Producer: 20110823 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. [electronic resource] by Billingsley, Gail Bin, Jenea Fieggen, Karen J Duncan, Jacque L Gerth, Christina Ogata, Koji Wodak, Shoshana S Traboulsi, Elias I Fishman, Gerald A Paterson, Andrew Chitayat, David Knueppel, Tanja Millán, José M Mitchell, Grant A Deveault, Catherine Héon, Elise Producer: 20101015 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients. [electronic resource] by Brofferio, Alessandra Sachdev, Vandana Hannoush, Hwaida Marshall, Jan D Naggert, Jürgen K Sidenko, Stanislav Noreuil, Anna Sirajuddin, Arlene Bryant, Joy Han, Joan C Arai, Andrew E Gahl, William A Gunay-Aygun, Meral Producer: 20180403 In: Molecular genetics and metabolism vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Histopathology of the human inner ear in Alström's syndrome. [electronic resource] by Nadol, Joseph B Marshall, Jan D Bronson, Roderick T Producer: 20160606 In: Audiology & neuro-otology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	A Fas-associated death domain protein/caspase-8-signaling axis promotes S-phase entry and maintains S6 kinase activity in T cells responding to IL-2. [electronic resource] by Arechiga, Adrian F Bell, Bryan D Leverrier, Sabrina Weist, Brian M Porter, Melissa Wu, Zhengqi Kanno, Yuka Ramos, Stephanie J Ong, S Tiong Siegel, Richard Walsh, Craig M Producer: 20071130 In: Journal of immunology (Baltimore, Md. : 1950) vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. [electronic resource] by Piñeiro-Gallego, Teresa Cortón, Marta Ayuso, Carmen Baiget, Montserrat Valverde, Diana Producer: 20121221 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	115.	Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. [electronic resource] by Jagger, Daniel Collin, Gayle Kelly, John Towers, Emily Nevill, Graham Longo-Guess, Chantal Benson, Jennifer Halsey, Karin Dolan, David Marshall, Jan Naggert, Jürgen Forge, Andrew Producer: 20110719 In: Human molecular genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Dynamic expression of epidermal caspase 8 simulates a wound healing response. [electronic resource] by Lee, Pedro Lee, Dai-Jen Chan, Carol Chen, Shih-Wei Ch'en, Irene Jamora, Colin Producer: 20090508 In: Nature vol. 458 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. [electronic resource] by Nasser, Fadi Weisschuh, Nicole Maffei, Pietro Milan, Gabriella Heller, Corina Zrenner, Eberhart Kohl, Susanne Kuehlewein, Laura Producer: 20181024 In: Acta ophthalmologica vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. [electronic resource] by Redin, Claire Le Gras, Stéphanie Mhamdi, Oussema Geoffroy, Véronique Stoetzel, Corinne Vincent, Marie-Claire Chiurazzi, Pietro Lacombe, Didier Ouertani, Ines Petit, Florence Till, Marianne Verloes, Alain Jost, Bernard Chaabouni, Habiba Bouhamed Dollfus, Helene Mandel, Jean-Louis Muller, Jean Producer: 20121228 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1. [electronic resource] by Purvis, Tracey L Hearn, Tom Spalluto, Cosma Knorz, Victoria J Hanley, Karen Piper Sanchez-Elsner, Tilman Hanley, Neil A Wilson, David I Producer: 20100608 In: Gene vol. 460 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives. [electronic resource] by Mihai, Cristina Maria Catrinoiu, Doina Marshall, Jan Stoicescu, Ramona Tofolean, Ioan Tiberiu Producer: 20100302 In: Journal of medicine and life vol. 1 Availability: No items available. Save to lists Add to cart (remove)

First
Previous
1
2
3
4
5
6
7
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 131 results.