High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

Autor: Marta F. Teixeira, Eny Maria Goloni-Bertollo, Eloiza H. Tajara, Érika Cristina Pavarino-Bertelli, M.P. Muniz, J.R. Antonio, Nelson Iguimar Valério, A.B. Trovó-Marqui

Publikováno v: Brazilian Journal of Medical and Biological Research, Vol 38, Iss 9, Pp 1441-1447 (2005)
SciELO
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Brazilian Journal of Medical and Biological Research, Volume: 38, Issue: 9, Pages: 1441-1447, Published: SEP 2005
ResearcherID
Brazilian Journal of Medical and Biological Research v.38 n.9 2005
Brazilian Journal of Medical and Biological Research
Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f88b54c1884fe6b25d31b30268c403d
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000900020

Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae

Autor: Alessandra B, Trovó-Marqui, Eny M, Goloni-Bertollo, Marta F, Teixeira, Eloiza H, Tajara

Publikováno v: Ophthalmic research. 36(6)

Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, Prader-Willi syndrome and neurofibr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bc03c6a324b70dad9df4b9d9113c6b26
https://pubmed.ncbi.nlm.nih.gov/15627836

Contents Vol. 36, 2004

Autor: Masami Kojima, Karin U. Löffler, Eny Maria Goloni-Bertollo, Rangaprasad Sarangarajan, Yoriko Hayasaka, Tomohiro Abe, Eloiza H. Tajara, Fides Meier, Goji Hasegawa, Marta F. Teixeira, Shireesh Apte, Seiji Hayasaka, Chihiro Katsumura, Hiroshi Sasaki, Tetsuya Sugiyama, Josef Flammer, Paula M. Sweet, Tsunehiko Ikeda, Hiroshi Obayashi, Fridbert Jonasson, Alessandra B. Trovó, Kazuyuki Sasaki, Peter Meyer, Hidehiro Oku, Hong Ming Cheng, Kimitoshi Nakamura, Jordan M. Graff, Michael R. Bryant, Egemen Savaskan, Franz Müller-Spahn, Roy S. Chuck, Xue-Yun Zhang

Publikováno v: Ophthalmic Research. 36:357-358

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::23c6fd40fd53ace5353ccbff3cf89625
https://doi.org/10.1159/000082995