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Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 10, p. 820, doi. 10.1007/s10038-007-0187-5
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- Article
Disappearance of electrocardiographic abnormalities associated with the arrhythmic pattern of a Barlow disease after surgical mitral valve repair.
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- Clinics & Practice, 2017, v. 7, n. 2, p. 70, doi. 10.4081/cp.2017.946
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- Article
Doppler Velocimetry in Superior Vena Cava Provides Useful Information on the Right Circulatory Function in Patients with Congestive Heart Failure.
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- Echocardiography, 2001, v. 18, n. 6, p. 469, doi. 10.1046/j.1540-8175.2001.00469.x
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- Article
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
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- European Journal of Human Genetics, 2006, v. 14, n. 1, p. 34, doi. 10.1038/sj.ejhg.5201502
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- Article
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
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- Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9377
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- Article