Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Alessandra Splendore"'
Autor:
Alessandra Splendore
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia, Vol 27, Iss 2, Pp 148-152 (2005)
Na comunicação científica, precisamos respeitar os princípios de clareza, precisão, comunicabilidade e consistência. Para isso, existe um comitê de nomenclatura genética, cuja função é assegurar que cada gene humano tenha um nome e símbol
Externí odkaz:
https://doaj.org/article/c7353a440fef4c24839aa0b3b7e17069
Autor:
Crisiane Wais Zanrosso, Mariana Emerenciano, Alexandre Figueiredo, Marcelo Reis, Synara Nô Seara Cordeiro, Alessandra Splendore, Maria S Pombo-de-Oliveira
Publikováno v:
Revista Brasileira de Cancerologia, Vol 51, Iss 4 (2005)
As leucemias resultam de uma interação adversa entre gene-ambiente, com susceptibilidade condicionada, pelo menos em parte, por polimorfismos de múltiplos genes. Como a metilenotetrahidrofolato redutase (MTHFR) possui papel chave no metabolismo do
Externí odkaz:
https://doaj.org/article/33faa5530af44c018a1e35d849a3064d
Autor:
Rocio Hassan, Lilian Brewer, Maria S. Pombo-de-Oliveira, Alessandra Splendore, Mariana Emerenciano, Marcela B. Mansur
Publikováno v:
Leukemia Research. 34:483-486
T-cell acute lymphoblastic leukemia (T-ALL) may affect children in very early age. However, the critical events leading to this brief latency is still unclear. We used standard methods to explore NOTCH1 mutations and other specific molecular markers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9254dae7b6977b4639d8a67061f7e4e4
https://doi.org/10.1016/j.leukres.2009.06.026
https://doi.org/10.1016/j.leukres.2009.06.026
Autor:
Birgit Halm, Karl Deisseroth, Joseph H. Bayle, Feng Ding, Katharine C. Harrison, Madhuri Roy, Hong Hua Li, Unsal Kuscuoglu, Corinne M. Spencer, Uta Francke, Leslie Meltzer, Richard Paylor, Elena E. Wright, Alessandra Splendore
Publikováno v:
EMBO Molecular Medicine
The neurodevelopmental disorder Williams-Beuren syndrome is caused by spontaneous approximately 1.5 Mb deletions comprising 25 genes on human chromosome 7q11.23. To functionally dissect the deletion and identify dosage-sensitive genes, we created two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce0fd14cc36eb6ed436dac3b6fcb408
https://doi.org/10.1002/emmm.200900003
https://doi.org/10.1002/emmm.200900003
Autor:
Marcia R. Amorim, Alexandre B. C. Figueiredo, Alessandra Splendore, Isis Q. Magalhães, Maria S. Pombo-d´e-Oli˙veira, null Bcsgail, Kênia B. El-Jaick, Maria Lydia D'andrea, Jozina Aquino, Dora Márcia Alencar, Silvia R. Brandalise, Lilian Burlemaqui, Teresa Cristina Cardoso, Eni Guimarães Carvalho, Virginia M. Coser, Imaruí Costa, Dolores Dorea, Mauricio Drumond, Venâncio Gomes Lopes, Núbia Mendonça, Maria Lucia M. Lee, Luis Fernando Lopes, Carmen M. Mendonça, Flávia Nogueira, Flávia Pimenta, Vitória P. Pinheiro, Denise Bousfield Da Silva, Elaine Sobral, Fernando R. Vargas, Fernando Werneck
Publikováno v:
Leukemia & Lymphoma. 50:834-840
Denaturing high-performance liquid chromatography (dHPLC) was developed to screen DNA variations by separating heteroduplex and homoduplex DNA fragments by ion-pair reverse-phase liquid chromatography. In this study, we have evaluated the dHPLC scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09fc386c13b0228319ff9be113a3429d
https://doi.org/10.1080/10428190902829433
https://doi.org/10.1080/10428190902829433
Autor:
Kátia Maria da Rocha, V.N.V.O. Takahashi, Alessandra Splendore, Mayana Zatz, Maria Rita Passos-Bueno
Publikováno v:
Revista Neurociências. 20:194-199
Objetivo. A síndrome de Rett (RTT), causada por mutações no gene MECP2, é uma encefalopatia grave e a segunda causa mais frequente de retardo mental em meninas. O objetivo deste trabalho é avaliar a experiência do Centro de Estudos do Genoma Hu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0989a498cd926881e544d21ea753d016
https://doi.org/10.4181/rnc.2012.20.688.6p
https://doi.org/10.4181/rnc.2012.20.688.6p
Autor:
Gerson Carakushanky, Antonio Richieri-Costa, Elias O. Silva, Nivaldo Alonso, Decio Brunoni, Denise P. Cavalcanti, Luis Garcia Alonso, Maria Rita Passos-Bueno, Alessandra Splendore, Alberto Rosa
Publikováno v:
Human Mutation. 16:315-322
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23501531a4b6fa18e439c65d34c8977e
https://doi.org/10.1002/1098-1004(200010)16:4<315::aid-humu4>3.0.co
https://doi.org/10.1002/1098-1004(200010)16:4<315::aid-humu4>3.0.co
Publikováno v:
Human Mutation. 26:390-392
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5fbd31ee755b048ad37f4e1aa3ba57f
https://doi.org/10.1002/humu.20233
https://doi.org/10.1002/humu.20233
Transient Neonatal Myeloproliferative Disorder Without Down Syndrome and Detection of GATA1 Mutation
Autor:
Isis Q. Magalhães, Maria S. Pombo-de-Oliveira, Alessandra Splendore, Paula Azevedo Allemand, Mara Santos Córdoba, Mariana Emerenciano, José Carlos Córdoba, Iris Ferrari
Publikováno v:
Journal of Pediatric Hematology/Oncology. 27:50-52
Transient myeloproliferative disorder is a form of self-limited leukemia that occurs almost exclusively in neonates with Down syndrome. The authors report an unusual case of a newborn without constitutional trisomy 21 who developed undifferentiated l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b780677cbc4abc9cfdf9b11eb09647b5
https://doi.org/10.1097/01.mph.0000151801.26478.03
https://doi.org/10.1097/01.mph.0000151801.26478.03
Publikováno v:
American journal of medical genetics. Part A. (13)
Cytogenetic imbalances are the most frequently identified cause of developmental delay or mental retardation, which affect 1-3% of children and are often seen in conjunction with growth retardation, dysmorphic features, and various congenital anomali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c782cd62ba8206300565f14e3de5c689
https://pubmed.ncbi.nlm.nih.gov/17568414
https://pubmed.ncbi.nlm.nih.gov/17568414