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American Journal of Medical Genetics. Part A|June 15, 2007
Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic featuresSwaroop Aradhya, Melanie A Manning, Alessandra Splendore, et al.European Journal of Human Genetics : EJHG|August 27, 2003
Parental origin of mutations in sporadic cases of Treacher Collins syndromeAlessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, et al.Human Mutation|April 16, 2005
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclatureAlessandra Splendore, Roberto D Fanganiello, Cibele Masotti, et al.Cancer Genetics and Cytogenetics|April 25, 2006
GATA1 mutations in acute leukemia in children with Down syndromeIsis Quezado Magalhães, Alessandra Splendore, Mariana Emerenciano, et al.Leukemia Research|July 28, 2009
T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangementsMarcela Braga Mansur, Mariana Emerenciano, Alessandra Splendore, et al.Gene|August 17, 2005
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interactionCibele Masotti, Lucia M Armelin-Correa, Alessandra Splendore, et al.BMC Medical Genetics|December 17, 2009
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patientsCibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, et al.Journal of Pediatric Hematology/Oncology|January 18, 2005
Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutationIsis Quezado Magalhães, Alessandra Splendore, Mariana Emerenciano, et al.BMC Cancer|January 10, 2012
Impact of complex NOTCH1 mutations on survival in paediatric T-cell leukaemiaMarcela Braga Mansur, Rocio Hassan, Thayana C Barbosa, et al.European Journal of Human Genetics : EJHG|November 15, 2007
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneityCibele Masotti, Karina G Oliveira, Fabiana Poerner, et al.Pageof 2