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	121.	Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs. [electronic resource] by Dell'Agnola, Chiara Wang, Zejing Storb, Rainer Tapscott, Stephen J Kuhr, Christian S Hauschka, Stephen D Lee, Richard S Sale, George E Zellmer, Eustacia Gisburne, Serina Bogan, Janet Kornegay, Joe N Cooper, Barry J Gooley, Theodore A Little, Marie-Térèse Producer: 20050324 In: Blood vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. [electronic resource] by Knight, Melanie A Hernandez, Dena Diede, Scott J Dauwerse, Hans G Rafferty, Ian van de Leemput, Joyce Forrest, Susan M Gardner, R J McKinlay Storey, Elsdon van Ommen, Gert-Jan B Tapscott, Stephen J Fischbeck, Kenneth H Singleton, Andrew B Producer: 20090716 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. [electronic resource] by Krom, Yvonne D Dumonceaux, Julie Mamchaoui, Kamel den Hamer, Bianca Mariot, Virginie Negroni, Elisa Geng, Linda N Martin, Nicolas Tawil, Rabi Tapscott, Stephen J van Engelen, Baziel G M Mouly, Vincent Butler-Browne, Gillian S van der Maarel, Silvère M Producer: 20130206 In: The American journal of pathology vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4. [electronic resource] by Balog, Judit Thijssen, Peter E Shadle, Sean Straasheijm, Kirsten R van der Vliet, Patrick J Krom, Yvonne D van den Boogaard, Marlinde L de Jong, Annika Lemmers, Richard J L F Tawil, Rabi Tapscott, Stephen J van der Maarel, Silvère M Producer: 20160812 In: Epigenetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD. [electronic resource] by Wang, Leo H Friedman, Seth D Shaw, Dennis Snider, Lauren Wong, Chao-Jen Budech, Chris B Poliachik, Sandra L Gove, Nancy E Lewis, Leann M Campbell, Amy E Lemmers, Richard J F L Maarel, Silvère M Tapscott, Stephen J Tawil, Rabi N Producer: 20190715 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. [electronic resource] by Lemmers, Richard J L F van den Boogaard, Marlinde L van der Vliet, Patrick J Donlin-Smith, Colleen M Nations, Sharon P Ruivenkamp, Claudia A L Heard, Patricia Bakker, Bert Tapscott, Stephen Cody, Jannine D Tawil, Rabi van der Maarel, Silvère M Producer: 20160322 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2. [electronic resource] by van den Boogaard, Marlinde L Lemmers, Richard J F L Camaño, Pilar van der Vliet, Patrick J Voermans, Nicol van Engelen, Baziel G M Lopez de Munain, Adolfo Tapscott, Stephen J van der Stoep, Nienke Tawil, Rabi van der Maarel, Silvère M Producer: 20160919 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model. [electronic resource] by de Greef, Jessica C Krom, Yvonne D den Hamer, Bianca Snider, Lauren Hiramuki, Yosuke van den Akker, Rob F P Breslin, Kelsey Pakusch, Miha Salvatori, Daniela C F Slütter, Bram Tawil, Rabi Blewitt, Marnie E Tapscott, Stephen J van der Maarel, Silvère M Producer: 20190107 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. [electronic resource] by Libby, Randell T Hagerman, Katharine A Pineda, Victor V Lau, Rachel Cho, Diane H Baccam, Sandy L Axford, Michelle M Cleary, John D Moore, James M Sopher, Bryce L Tapscott, Stephen J Filippova, Galina N Pearson, Christopher E La Spada, Albert R Producer: 20081217 In: PLoS genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons. [electronic resource] by Hendrickson, Peter G Doráis, Jessie A Grow, Edward J Whiddon, Jennifer L Lim, Jong-Won Wike, Candice L Weaver, Bradley D Pflueger, Christian Emery, Benjamin R Wilcox, Aaron L Nix, David A Peterson, C Matthew Tapscott, Stephen J Carrell, Douglas T Cairns, Bradley R Producer: 20170912 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2. [electronic resource] by Lemmers, Richard Jlf van der Vliet, Patrick J Balog, Judit Goeman, Jelle J Arindrarto, Wibowo Krom, Yvonne D Straasheijm, Kirsten R Debipersad, Rashmie D Özel, Gizem Sowden, Janet Snider, Lauren Mul, Karlien Sacconi, Sabrina van Engelen, Baziel Tapscott, Stephen J Tawil, Rabi van der Maarel, Silvère M Producer: 20181211 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	A unifying genetic model for facioscapulohumeral muscular dystrophy. [electronic resource] by Lemmers, Richard J L F van der Vliet, Patrick J Klooster, Rinse Sacconi, Sabrina Camaño, Pilar Dauwerse, Johannes G Snider, Lauren Straasheijm, Kirsten R van Ommen, Gert Jan Padberg, George W Miller, Daniel G Tapscott, Stephen J Tawil, Rabi Frants, Rune R van der Maarel, Silvère M Producer: 20101104 In: Science (New York, N.Y.) vol. 329 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. [electronic resource] by Krom, Yvonne D Thijssen, Peter E Young, Janet M den Hamer, Bianca Balog, Judit Yao, Zizhen Maves, Lisa Snider, Lauren Knopp, Paul Zammit, Peter S Rijkers, Tonnie van Engelen, Baziel G M Padberg, George W Frants, Rune R Tawil, Rabi Tapscott, Stephen J van der Maarel, Silvère M Producer: 20130625 In: PLoS genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. [electronic resource] by Sacconi, Sabrina Lemmers, Richard J L F Balog, Judit van der Vliet, Patrick J Lahaut, Pauline van Nieuwenhuizen, Merlijn P Straasheijm, Kirsten R Debipersad, Rashmie D Vos-Versteeg, Marianne Salviati, Leonardo Casarin, Alberto Pegoraro, Elena Tawil, Rabi Bakker, Egbert Tapscott, Stephen J Desnuelle, Claude van der Maarel, Silvère M Producer: 20140219 In: American journal of human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Intronic [electronic resource] by Goossens, Remko van den Boogaard, Marlinde L Lemmers, Richard J L F Balog, Judit van der Vliet, Patrick J Willemsen, Iris M Schouten, Julie Maggio, Ignazio van der Stoep, Nienke Hoeben, Rob C Tapscott, Stephen J Geijsen, Niels Gonçalves, Manuel A F V Sacconi, Sabrina Tawil, Rabi van der Maarel, Silvère M Producer: 20200629 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. [electronic resource] by Balog, Judit Goossens, Remko Lemmers, Richard J L F Straasheijm, Kirsten R van der Vliet, Patrick J Heuvel, Anita van den Cambieri, Chiara Capet, Nicolas Feasson, Léonard Manel, Veronique Contet, Julian Kriek, Marjolein Donlin-Smith, Colleen M Ruivenkamp, Claudia A L Heard, Patricia Tapscott, Stephen J Cody, Jannine D Tawil, Rabi Sacconi, Sabrina van der Maarel, Silvère M Producer: 20191004 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. [electronic resource] by Mul, Karlien Lemmers, Richard J L F Kriek, Marjolein van der Vliet, Patrick J van den Boogaard, Marlinde L Badrising, Umesh A Graham, John M Lin, Angela E Brand, Harrison Moore, Steven A Johnson, Katherine Evangelista, Teresinha Töpf, Ana Straub, Volker Kapetanovic García, Solange Sacconi, Sabrina Tawil, Rabi Tapscott, Stephen J Voermans, Nicol C van Engelen, Baziel G M Horlings, Corinne G C Shaw, Natalie D van der Maarel, Silvère M Producer: 20190820 In: Neurology vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. [electronic resource] by Lemmers, Richard J L F Goeman, Jelle J van der Vliet, Patrick J van Nieuwenhuizen, Merlijn P Balog, Judit Vos-Versteeg, Marianne Camano, Pilar Ramos Arroyo, Maria Antonia Jerico, Ivonne Rogers, Mark T Miller, Daniel G Upadhyaya, Meena Verschuuren, Jan J G M Lopez de Munain Arregui, Adolfo van Engelen, Baziel G M Padberg, George W Sacconi, Sabrina Tawil, Rabi Tapscott, Stephen J Bakker, Bert van der Maarel, Silvère M Producer: 20150723 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. [electronic resource] by van den Boogaard, Marlinde L Lemmers, Richard J L F Balog, Judit Wohlgemuth, Mariëlle Auranen, Mari Mitsuhashi, Satomi van der Vliet, Patrick J Straasheijm, Kirsten R van den Akker, Rob F P Kriek, Marjolein Laurense-Bik, Marlies E Y Raz, Vered van Ostaijen-Ten Dam, Monique M Hansson, Kerstin B M van der Kooi, Elly L Kiuru-Enari, Sari Udd, Bjarne van Tol, Maarten J D Nishino, Ichizo Tawil, Rabi Tapscott, Stephen J van Engelen, Baziel G M van der Maarel, Silvère M Producer: 20170515 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	140.	Insights into pediatric rhabdomyosarcoma research: Challenges and goals. [electronic resource] by Yohe, Marielle E Heske, Christine M Stewart, Elizabeth Adamson, Peter C Ahmed, Nabil Antonescu, Cristina R Chen, Eleanor Collins, Natalie Ehrlich, Alan Galindo, Rene L Gryder, Berkley E Hahn, Heidi Hammond, Sharon Hatley, Mark E Hawkins, Douglas S Hayes, Madeline N Hayes-Jordan, Andrea Helman, Lee J Hettmer, Simone Ignatius, Myron S Keller, Charles Khan, Javed Kirsch, David G Linardic, Corinne M Lupo, Philip J Rota, Rossella Shern, Jack F Shipley, Janet Sindiri, Sivasish Tapscott, Stephen J Vakoc, Christopher R Wexler, Leonard H Langenau, David M Producer: 20200205 In: Pediatric blood & cancer vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 141 results.