Publications by authors named "Alessandra Splendore"

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Impact of complex NOTCH1 mutations on survival in paediatric T-cell leukaemia.
Marcela Braga Mansur, Rocio Hassan, Thayana C Barbosa, Alessandra Splendore, Patricia Y Jotta

BMC Cancer· January 2012

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T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements.
Marcela Braga Mansur, Mariana Emerenciano, Alessandra Splendore, Lilian Brewer, Rocio Hassan

Leuk Res· April 2010

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Detection of mutations in GATA1 gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome.
Marcia R Amorim, Alexandre B C Figueiredo, Alessandra Splendore, Isis Q Magalhães, Maria S Pombo-de-Oliveira

Leuk Lymphoma· May 2009

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Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.
Hong Hua Li, Madhuri Roy, Unsal Kuscuoglu, Corinne M Spencer, Birgit Halm, Alessandra Splendore

EMBO Mol Med· April 2009

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Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.
Cibele Masotti, Karina G Oliveira, Fabiana Poerner, Alessandra Splendore, Josiane Souza

Eur J Hum Genet· February 2008

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Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
Swaroop Aradhya, Melanie A Manning, Alessandra Splendore, Athena M Cherry

Am J Med Genet A· July 2007

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An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
Lisa Edelmann, Aaron Prosnitz, Sherly Pardo, Jahnavi Bhatt, Ninette Cohen, Alessandra Splendore

J Med Genet· February 2007

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GATA1 mutations in acute leukemia in children with Down syndrome.
Isis Quezado Magalhães, Alessandra Splendore, Mariana Emerenciano, Alexandre Figueiredo, Iris Ferrari

Cancer Genet Cytogenet· April 2006

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A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.
Cibele Masotti, Lucia M Armelin-Correa, Alessandra Splendore, Chin J Lin, Angela Barbosa

Gene· October 2005

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GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature.
Alessandra Splendore, Isis Q Magalhães, Maria S Pombo-de-Oliveira

Hum Mutat· October 2005

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TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
Alessandra Splendore, Roberto D Fanganiello, Cibele Masotti, Lucas S C Morganti, M Rita Passos-Bueno

Hum Mutat· May 2005

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Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation.
Isis Quezado Magalhães, Alessandra Splendore, Mariana Emerenciano, Mara Santos Córdoba, Jose Carlos Córdoba

J Pediatr Hematol Oncol· January 2005

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Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-Bueno

Eur J Hum Genet· September 2003

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TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.
Alessandra Splendore, Maria Rita Passos-Bueno, Ethylin Wang Jabs, Lionel Van Maldergem, Eric A Wulfsberg

Am J Med Genet· August 2002

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