Bárbara Marques

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Peters' anomaly (PA) is a congenital defect of the anterior chamber of the eye. We identified a family in which an apparently balanced chromosomal translocation t(1;7) (q41;p21) was associated with PA. Based on this observation, detailed molecular characterizations of the breakpoint regions and candidate genes were carried out. A candidate gene from each(More)
Split hand-split foot malformation or ectrodactyly is a heterogeneous congenital defect of digit formation. The aim of this study is the mapping of the breakpoints and a detailed molecular characterization of the candidate genes for an isolated and syndromic form of ectrodactyly, both associated with de novo apparently balanced chromosome translocations(More)
BACKGROUND More accurate prognostic assessment of patients with neuroblastoma is required to better inform the choice of risk-related therapy. The aim of this study is to develop and validate a gene-expression signature to improve outcome prediction. METHODS 59 genes were selected using an innovative data-mining strategy, and were profiled in the largest(More)
High-resolution array comparative genomic hybridization (arrayCGH) profiling was performed on 75 primary tumors and 29 cell lines to gain further insight into the genetic heterogeneity of neuroblastoma and to refine genomic subclassification. Using a novel data-mining strategy, three major and two minor genomic subclasses were delineated. Eighty-three(More)
Epithelial salivary ducts included in the lymphoïd tissue are sometimes recognized in the lymph nodes of an adult parotid region. These salivary inclusions into the nodes are in fact constant features of the foetal parotid gland. They arise by progressive development of a lymph node in a salivary lobula: lymphoid cells progressively stuff the lobula and(More)
PURPOSE Precise and comprehensive analysis of neuroblastoma genetics is essential for accurate risk evaluation and only pangenomic/multilocus approaches fulfill the present-day requirements. We present the establishment and validation of the PCR-based multiplex ligation-dependent probe amplification (MLPA) technique for neuroblastoma. EXPERIMENTAL DESIGN(More)
The growth of numerous human oestrogen target cell lines is said to have been stimulated by oestradiol. We studied the action of this hormone on the growth of two human cancer cell lines originating from endometrium (GUS), and from breast (FAM). Oestradiol was inactive on endometrial cell multiplication as well as on their tritiated thymidine uptake, but in(More)
Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5′ end of TRPS1. Based on the additional abnormalities observed exclusively in the(More)
A new cell line was derived from the epithelioid sarcoma of a Caucasian woman who had previously received chemotherapy. The cells grew as an adherent monolayer, with a doubling time of 28 hr and had mainly epithelial morphology, but with areas of mesenchymal-like cytoplasmic extensions. The cells were tumorigenic in nude mice, with a short growth time, and(More)
Human pyruvate dehydrogenase complex (PDC) catalyzes a key step in the generation of cellular energy and is composed by three catalytic elements (E1, E2, E3), one structural subunit (E3-binding protein), and specific regulatory elements, phosphatases and kinases (PDKs, PDPs). The E1α subunit exists as two isoforms encoded by different genes: PDHA1 located(More)