Zobrazeno 1 - 6 of 6 pro vyhledávání: '"L. G. Alonso"'
1
Critical analysis of aortic dysmorphism in Marfan Syndrome
Autor: Luara Lucena Cassiano, I. H. J. Koh, R. B. Souza, Ama Liberatore, Alda Martins, C. Vretos, RC Tedesco, L. G. Alonso
Publikováno v: Journal of Morphological Sciences. 34:001-006
Introduction: Marfan syndrome (OMIM #154700) was described for the first time in 1896 by Antoine Bernard-Jean Marfan. It is characterized by its autosomal dominant inheritance pattern, affects 1:5000 of those born alive, and involves the gene that co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7e2ac7914c498fa298b4fbf13592b7e1
https://doi.org/10.4322/jms.102516
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2
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
Autor: F S, Jehee, D, Johnson, L G, Alonso, D P, Cavalcanti, E, de Sá Moreira, F L, Alberto, F, Kok, C, Kim, S A, Wall, E W, Jabs, S A, Boyadjiev, A O M, Wilkie, M R, Passos-Bueno
Publikováno v: Clinical genetics. 67(6)
Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the genetic basis of metopic synostosis and in an attempt to restrict the candidate regions rel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3e3d93cac46ce3e7f2416c3ef4d0b668
https://pubmed.ncbi.nlm.nih.gov/15857417
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3
Neutrophil antigen 5b is carried by a protein, migrating from 70 to 95 kDa, and may be involved in neonatal alloimmune neutropenia
Autor: K. Van Der Kolk, M. Kos, L. Buddelmeijer, A. E. G. K. Von Dem Borne, M. de Haas, L. G. Alonso, L. Porcelijn, E Muniz-Diaz
Publikováno v: Transfusion. 40(2)
BACKGROUND: Neutrophil antigen 5b has been described as involved in transfusion reactions and not in neonatal alloimmune neutropenia. CASE REPORT: Anti-5b was found in the serum of a mother of a persistently neutropenic newborn, who had several bacte
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ec2ffbb2f4a48abff61d3d746bb26f
https://pubmed.ncbi.nlm.nih.gov/10686007
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4
Clinical spectrum of fibroblast growth factor receptor mutations
Autor: M R, Passos-Bueno, W R, Wilcox, E W, Jabs, A L, Sertié, L G, Alonso, H, Kitoh
Publikováno v: Human mutation. 14(2)
During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8490f491ece4c1dd84cc3d675c1a7db2
https://pubmed.ncbi.nlm.nih.gov/10425034
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5
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses
Autor: M R, Passos-Bueno, A L, Sertié, A, Richieri-Costa, L G, Alonso, M, Zatz, N, Alonso, D, Brunoni, S F, Ribeiro
Publikováno v: American journal of medical genetics. 78(3)
Dominant mutations in three fibroblast growth factor receptor genes (FGFRs1-3) cause Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. In the present study, 50 Brazilian patients with these four syndromes (27 Apert, 17 Crouzon, 5 Pfeiffer, and 1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::709e1584b6abec3b8eef4c72a79c2c57
https://pubmed.ncbi.nlm.nih.gov/9677057
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Plný text Recenzováno Digitální knihovna AV ČR
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