Results 131 to 140 of about 9,445 (236)

The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density [PDF]

, 2008
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ Springer-Verlag 2008.In the nuclei of human lymphocytes, chromosome territories are distributed according to the average gene density of ...
A Bolzer, A Ono, AM Boutanaev, B Dutrillaux, BA Boggs, C Federico, C Federico, C Federico, C Federico, C Federico, Catia Daniela Cantarella, CM Clemson, Concetta Federico, D Zink, E Lukasova, ED Andrulis, EV Volpi, G Bernardi, G D’Onofrio, H Tanabe, H Tanabe, HA Foster, I Solovei, IHGSC (International Human Genome Sequencing Consortium), J Ferreira, J Strouboulis, J Zhou, JA Croft, JJ Roix, JM Bridger, K Kupper, KE Brown, L Andreozzi, M Cockell, M Costantini, M Neusser, N Gilbert, N Sadoni, NV Petrova, Patrizia Di Mare, PS Masny, S Boyle, S D’Antoni, S Saccone, S Saccone, S Saccone, S Saccone, Sabrina Tosi, Salvatore Saccone, SW Scherer, T Cremer, TS Furey, U Francke, WA Bickmore   +53 more
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Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis [PDF]

, 1998
Richard J.L.F. Lemmers
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Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature

Applied Sciences
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease, which is caused by the mistaken expression of double homeobox protein 4 protein 4 (DUX4) in skeletal muscle.
Qi Xie, Guangmei Ma, Yafeng Song
doaj   +1 more source

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35 [PDF]

, 1995
Cisca Wijmenga, Hans G. Dauwerse, George W. Padberg, Nicolle Meyer, Jeffrey C. Murray, Kate Mills, Gert‐Jan B. van Ommen, Marten H. Hofker, Rune R. Frants   +8 more
openalex   +1 more source

A rare case of myasthenia gravis with coexisting muscular dystrophy [PDF]

, 2014
Myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against postsynaptic membrane of neuromuscular junction, resulting in muscle weakness and fatigability.
Aftab, Sommayya, Hamid, M Haroon, Sultan, Tipu   +2 more
core   +1 more source

Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD‐dependent genes [PDF]

, 2006
Barbara Celegato, Daniele Capitanio, Mario Pescatori, Chiara Romualdi, Beniamina Pacchioni, Stefano Cagnin, Agnese Viganò, Luca Colantoni, Shajna Begum, Enzo Ricci, Robin Wait, Gerolamo Lanfranchi, Cecilia Gelfi   +12 more
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Фамилен, генетично верифициран случай на фациоскапулохумерална мускулна дистрофия с ранно начало

Българска неврология, 2020
Фациоскапулохумералната мускулна дистрофия е третата най-често срещана форма на мускулна дистрофия след Duchenne мускулна дистрофия и миотонична мускулна дистрофия с честота 1:15 000-20 000 здрави хора. От генетична гледна точка се различават 2 подтипа –
Maya Koleva, V. Bojinova, D. Bogdanova, T. Todorov, A. Todorova   +4 more
doaj  

540. RNAi Targeting of FRG1: A Potential Therapy for Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2008

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Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy

Stem Cell Research
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically complex condition marked by progressive skeletal muscle weakness, primarily affecting the face, shoulders, and upper arms.
Ravichandra Venkateshappa, Francesca Vacante, Lingyun Xu, Gabriela Canel-Rivero, John W. Day, Joseph C. Wu   +5 more
doaj   +1 more source

387. Developing RNAi Therapy for FSHD [PDF]

, 2009

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