Results 101 to 110 of about 1,472 (192)
Stronger inflammatory/cytotoxic T cell response in women identified by microarray analysis [PDF]
, 2008 Women develop chronic inflammatory autoimmune diseases like lupus more often than men. The mechanisms causing the increased susceptibility are incompletely understood, although estrogen is believed to contribute.
Anura Hewagama +4 more
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Genetic testing for Marfan-like disorders [PDF]
, 2018 Marfan-like disorders are inherited conditions with features resembling Marfan syndrome but without a pathogenic variant in FBN1, and/or without a clinical diagnosis of Marfan syndrome according to the Revised Ghent criteria, and/or with a pathogenic ...
Beccari Tommaso +7 more
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, 2007 dissertationEvery year millions of children are born with a birth defect. Birth defects, which can be described as abnormalities of structure or function that is present from birth, are the leading cause of infant death in developed countries and a ...
Toydemir, Reha
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Hereditary Thoracic Aortic Diseases [PDF]
Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term 'hereditary thoracic aortic diseases'.
Elena Bennati +8 more
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Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report [PDF]
, 2009 Zoran S Gucev +25 more
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Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for ~25% of all congenital heart defects. OHDs are highly heritable, resulting from interplay among maternal exposures, genetic susceptibilities ...
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Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections [PDF]
, 2013 This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome.
Hilhorst-Hofstee, Y.
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[Congenital contractural arachnodactyly. Report of 2 clinical cases].
Boletin medico del Hospital Infantil de Mexico, 1989 Two unrelated male children, aged 15 and 2 months, with congenital contractural arachnodactyly (CCA) are described. CCA is an autosomal dominant disorder of benign evolution, affects the connective tissue and its morphologic phenotype is similar to Marfan syndrome. Differential diagnosis and management are discussed.
R, Martínez y Martínez +3 more
openaire +1 more source
THE CLINICAL SPECTRUM OF CONGENITAL CONTRACTURAL ARACHNODACTYLY: A CASE WITH CONGENITAL HEART DISEASE [PDF]
, 1974 Edward H. Lipson +3 more
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Surgical treatment of scoliosis in a rare disease: arthrogryposis [PDF]
, 2010 Tiziana Greggi +7 more
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