Results 71 to 80 of about 3,537,976 (165)

A review of congenital heart block [PDF]

, 2003
Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. It may be associated with high mortality and morbidity.
Glickstein, J., Buyon, Jill P., Friedman, Deborah M., Duncanson, L.J.   +3 more
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Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]

, 2012
BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Meinen, Sarina, Markus A Ruegg, Ruegg, Markus A., Sarina Meinen, Shuo Lin, Lin, Shuo   +5 more
core   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel

Background: Congenital myopathies are a group of neuromuscular disorders that typically present at birth or early childhood with hypotonia and non-progressive or slowly progressive muscle weakness.
Eng, Lucy, Bonnemann, Carsten G., D'Amico, Adele, Sarkozy, Anna, Winder, Tom, Beggs, Alan H., Pelin, Katarina, Muntoni, Francesco, McNulty, Shannon, Medne, Livija, Lindy, Amanda, Palus, Brooke, Dowling, James, Ross, Justyne E., Vatta, Matteo, Patel, Mayher, Rendu, John, Fattori, Fabiana, Donkervoort, Sandra, Bertini, Enrico, Lek, Monkol, Genetti, Casie A., Yang, Hui, Owens, Emma, Gonorazky, Hernan, Flowers, May, Ceyhan-Birsoy, Ozge, Pajusalu, Sander, Ferreiro, Ana, Yoon, Grace, Elnagheeb, Marwa Abdelmoneim   +30 more
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A description of congenital anomalies among infants in Entebbe, Uganda. [PDF]

, 2011
BACKGROUND: Data on congenital anomalies from developing countries of the sub-Saharan region are scarce. However, it is important to have comprehensive and reliable data on the description and prevalence of congenital anomalies to allow surveillance and ...
Lule, Swaib, Mpairwe, Harriet, Miriam Akello, Oduru, Gloria, Akello, Miriam, Swaib Lule, Gloria Oduru, Muhangi, Lawrence, Lawrence Muhangi, Kiggundu, Molly, Molly Kiggundu, Alison M. Elliott, Nampijja, Margaret, Margaret Nampijja, Elliott, Alison M, Ndibazza, Juliet, Harriet Mpairwe, Juliet Ndibazza   +17 more
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Current advances in 2025: A critical review of selected topics by the Association for the Advancement of Blood and Biotherapies (AABB) Clinical Transfusion Medicine Committee

Transfusion, EarlyView.
Nabiha H. Saifee, Jennifer Andrews, Mary Berg, Stella T. Chou, Mischa Covington, Elizabeth P. Crowe, Ruchika Goel, Juliana A. Guarente, Tina Ipe, Jeremy W. Jacobs, Jessica Jacobson, Cyril Jacquot, Jenna Khan, Thane A. Kubik, Theodros Mamo, Michael F. Murphy, Kerry O'Brien, Monica B. Pagano, Anil K. Panigrahi, Jacqueline N. Poston, Scott E. Potter, Simon J. Stanworth, Moritz Stolla, Alyssa Ziman, Ryan A. Metcalf   +24 more
wiley   +1 more source

Walsh & Hoyt: Relationship Among the Different Congenital Myopathies

, 2005
It is clear that individual patients may show structural alterations of muscle fibers that are ""characteristic"" of more than one type of congenital myopathy.
Paul H. Phillips, MD
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Ocular sequelae of congenital toxoplasmosis in Brazil compared with Europe [PDF]

, 2008
Toxoplasmic retinochoroiditis appears to be more severe in Brazil, where it is a leading cause of blindness, than in Europe, but direct comparisons are lacking.
Bahia Oliveira LM, Bahia-Oliveira Lilian M. G., Bahia-Oliveira, LM, Wallon M, Martine Wallon, Lilian M G Bahia-Oliveira, Petersen E, Miles R Stanford, Wallon Martine, Stanford MR, Ruth E Gilbert, Tan, HK, Freeman, K, Katherine Freeman, Stanford Miles R., Lago, EG, Lago EG, Hooi Kuan Tan, Stanford, MR, Tan Hooi Kuan, Freeman K, Gilbert RE, Tan HK, European Multicentre Study on Congenital T.o.x.o.p.l.a.s.m.o.s.i.s., Freeman Katherine, Gilbert, RE, Eskild Petersen, Gilbert Ruth E., European Multicentre Study on Congenital Toxoplasmosis (EMSCOT), Buffolano Wilma, Wilma Buffolano, Petersen, E, Lago Eleonor G., BUFFOLANO, WILMA, Eleonor G Lago, Buffolano, W, Wallon, M, Petersen Eskild   +37 more
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[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].

Postepy higieny i medycyny doswiadczalnej (Online), 2012
Congenital myopathies are clinically and genetically heterogeneous disorders characterized by muscle structural abnormalities, muscle weakness and deformities. The clinical spectrum of the disease ranges from severe cases with early death to adult-onset cases with slow progression.
Katarzyna, Robaszkiewicz, Joanna, Moraczewska   +1 more
openaire   +1 more source

Muscular dystrophies and congenital myopathies in childhood

, 2011
Muscular dystrophies and congenital myopathies in childhood. Muscular dystrophies and congenital myopathies often produce a similar clinical picture of muscle weakness and atrophy.
Tulinius, Mar,, Darin, Niklas,, Thorarinsdottir, Brynja Kristin,   +2 more
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