Search Results - "Splendore, A"

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle by Splendore, A, Jabs, E W, Passos-Bueno, M R

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An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism by Edelmann, Lisa, Prosnitz, Aaron, Pardo, Sherly, Bhatt, Jahnavi, Cohen, Ninette, Lauriat, Tara, Ouchanov, Leonid, González, Patricia J, Manghi, Elina R, Bondy, Pamela, Esquivel, Marcela, Monge, Silvia, Delgado, Marietha F, Splendore, Alessandra, Francke, Uta, Burton, Barbara K, McInnes, L Alison

“…Background: During a genetic study of autism, a female child who met diagnostic criteria for autism spectrum disorder, but also exhibited the…”
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TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature by Splendore, Alessandra, Fanganiello, Roberto D., Masotti, Cibele, Morganti, Lucas S.C., Rita Passos-Bueno, M.

“…Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In addition, most published…”
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High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes by Splendore, Alessandra, Silva, Elias O., Alonso, Luís G., Richieri-Costa, Antônio, Alonso, Nivaldo, Rosa, Alberto, Carakushanky, Gerson, Cavalcanti, Denise P., Brunoni, Décio, Passos-Bueno, Maria Rita

“…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…”
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A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA–protein interaction by Masotti, Cibele, Armelin-Correa, Lucia M., Splendore, Alessandra, Lin, Chin J., Barbosa, Angela, Sogayar, Mari C., Passos-Bueno, Maria Rita

“…Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial malformation caused by null mutations in the TCOF1 gene. High inter and intra familial…”
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Parental origin of mutations in sporadic cases of Treacher Collins syndrome by SPLENDORE, Alessandra, JABS, Ethylin Wang, FELIX, Têmis Maria, PASSOS-BUENO, Maria Rita

“…In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male…”
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GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature by Splendore, Alessandra, Magalhães, Isis Q., Pombo-de-Oliveira, Maria S.

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Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation by Magalhães, Isis Quezado, Splendore, Alessandra, Emerenciano, Mariana, Córdoba, Mara Santos, Córdoba, Jose Carlos, Allemand, Paula Azevedo, Ferrari, Iris, Pombo-de-Oliveira, Maria S

“…Transient myeloproliferative disorder is a form of self-limited leukemia that occurs almost exclusively in neonates with Down syndrome. The authors report an…”
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GATA1 mutations in acute leukemia in children with Down syndrome by Magalhães, Isis Quezado, Splendore, Alessandra, Emerenciano, Mariana, Figueiredo, Alexandre, Ferrari, Íris, Pombo-de-Oliveira, Maria S.

“…It has been reported that somatic mutations in the X-linked GATA1 gene are present in hematological clonal disorders in children with Down syndrome (DS). We…”
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TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders by Splendore, Alessandra, Passos-Bueno, Maria Rita, Jabs, Ethylin Wang, Van Maldergem, Lionel, Wulfsberg, Eric A.

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