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Application of molecular cytogenetic in the diagnosis of patients with congenital anomalies for the reduction of infant mortality


Infant mortality due to congenital anomalies constitutes a major diagnostic challenge of pediatric hospital admissions. However, the classic cytogenetic analysis is not sufficient to explain all the abnormalities found at birth, making essential to adopt a more sensible method. The work will investigate patients with apparently normal karyotype and clinical phenotype using the techniques of in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA). The introduction of these methods to SUS will enable an accurate diagnosis, a course of treatment and appropriate genetic counseling, which can significantly reduce the incidence of mortality and hospital costs. (AU)

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Scientific publications (7)
(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)
CERONI, J. R. M.; DUTRA, R. L.; HONJO, R. S.; LLERENA, JR., J. C.; ACOSTA, A. X.; MEDEIROS, P. F. V.; GALERA, M. F.; ZANARDO, E. A.; PIAZZON, F. B.; DIAS, A. T.; et al. A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability. SCIENTIFIC REPORTS, v. 8, . (09/53105-9, 09/53864-7, 14/11572-8, 08/58238-4, 12/25247-6)
MELONI, VERA AYRES; TAKENO, SYLVIA SATOMI; PILLA, ANA LUIZA; DE MELLO, CLAUDIA BERLIM; MELARAGNO, MARIA ISABEL; KULIKOWSKI, LESLIE DOMENICI. Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up. MOLECULAR CYTOGENETICS, v. 7, . (10/05123-5, 09/53105-9)
DUTRA, ROBERTA L.; PIAZZON, FLAVIA B.; ZANARDO, EVELIN A.; MOURA MACHADO COSTA, THAIS VIRGINIA; MONTENEGRO, MARILIA M.; NOVO-FILHO, GIL M.; DIAS, ALEXANDRE T.; NASCIMENTO, AMOM M.; KIM, CHONG AE; KULIKOWSKI, LESLIE D.. Rare Genomic Rearrangement in a Boy with Williams-Beuren Syndrome Associated to XYY Syndrome and Intriguing Behavior. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 167, n. 12, p. 3197-3203, . (09/53105-9)
GRASSI, MARCILIA S.; JACOB, CRISTINA M. A.; KULIKOWSKI, LESLIE D.; PASTORINO, ANTONIO C.; DUTRA, ROBERTA L.; MIURA, NANA; JATENE, MARCELO B.; PEGLER, STEPHANIE P.; KIM, CHONG A.; CARNEIRO-SAMPAIO, MAGDA. Cardiopatias Congênitas como um Sinal de Alerta para o Diagnóstico da Deleção do 22q11.2. Arquivos Brasileiros de Cardiologia, v. 103, n. 5, p. 382-390, . (08/58238-4, 09/53105-9, 09/53864-7)
TORRES, LEURIDAN CAVALCANTE; KULIKOWSKI, LESLIE DOMENICI; RAMOS, PATRICIA LOCOSQUE; MIURA SUGAYAMA, SOFIA MIZUKO; MOREIRA-FILHO, CARLOS ALBERTO; CARNEIRO-SAMPAIO, MAGDA. Disruption of the CREBBP gene and decreased expression of CREB, NF kappa B p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation. HUMAN IMMUNOLOGY, v. 74, n. 8, p. 911-915, . (09/53105-9)
CHRISTOFOLINI, DENISE M.; PIAZZON, FLAVIA B.; EVO, CAROLINA; MAFRA, FERNANDA A.; COSENZA, STELLA R.; DIAS, ALEXANDRE T.; BARBOSA, CAIO P.; BIANCO, BIANCA; KULIKOWSKI, LESLIE D.. Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications. MOLECULAR CYTOGENETICS, v. 7, . (09/53105-9)
DE ATHAYDE COSTA, LARISSA SAMPAIO; ZANDONA-TEIXEIRA, ALINE C.; MONTENEGRO, MARILIA M.; DIAS, ALEXANDRE T.; DUTRA, ROBERTA L.; HONJO, RACHEL S.; BERTOLA, DEBORA R.; KULIKOWSKI, LESLIE D.; KIM, CHONG A.. Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome. MOLECULAR CYTOGENETICS, v. 8, . (11/16664-0, 09/53105-9)

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