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Molecular genetic study in individuals with midline malformations and hypotelorism: holoprosencephaly as a model


The formation of the craniofacial complex is a process that requires considerable organization. The head of vertebrates consists of structures whose formation begins early in development. The central point in the development of the head is the concept of segmentation, which is manifested in the hindbrain and branchial arches. Together with the migration of neural crest cells, these systems give rise to much of the head and neck and his associates and individual compartments. It has become clear that the molecular control of embryonic morphogenesis is the level of the gene, particularly within families of genes that encode transcription factors capable of regulating gene transcription. How these genes involved produce complex structures that form the regionalized building blocks of the development of head and neck? It is instructive to consider those genes involved in embryogenesis as encoding a set of rules or instructions for assembling the parts. Craniofacial anomalies are common features in human dysmorphology suggesting that genes important in development of the face also play an important role in other embryonic structures. Based on previous results and in order to contribute further information about the molecular mechanisms involved in craniofacial anomalies of midline, our goal is to analyze, in the Holoprosencephalies, the genes GAS1, SHH, ZIC2, SIX3, TGIF, and PTCH by sequencing techniques and by MLPA mehtodology, and investigate new candidate loci by arrayCGH. (AU)

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
GAMBA, BRUNO FAULIN; RICHIERI-COSTA, ANTONIO; COSTA, SILVIA; ROSENBERG, CARLA; RIBEIRO-BICUDO, LUCILENE ARILHO. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Molecular Genetics and Genomics, v. 290, n. 6, p. 2213-2216, DEC 2015. Web of Science Citations: 8.
GAMBA, BRUNO F.; ROSENBERG, CARLA; COSTA, SILVIA; RICHIERI-COSTA, ANTONIO; RIBEIRO-BICUDO, LUCILENE A. Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14. MOLECULAR SYNDROMOLOGY, v. 6, n. 1, p. 39-43, 2015. Web of Science Citations: 1.

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