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Investigation of copy number variation by SNP array in congenital defects with complex inheritance: the model of cleft lip and palate

Grant number: 08/10596-0
Support type:Regular Research Grants
Duration: March 01, 2009 - April 30, 2012
Field of knowledge:Biological Sciences - Genetics
Principal Investigator:Vera Lúcia Gil da Silva Lopes
Grantee:Vera Lúcia Gil da Silva Lopes
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Scientific publications (10)
(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)
CRUZ, PEDRO R. S.; ANANINA, GALINA; GIL-DA-SILVA-LOPES, VERA LUCIA; SIMIONI, MILENA; MENAA, FARID; BEZERRA, MARCOS A. C.; DOMINGOS, IGOR F.; ARAUJO, ADERSON S.; PELLEGRINO, RENATA; HAKONARSON, HAKON; COSTA, FERNANDO F.; DE MELO, MONICA BARBOSA. Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence. SCIENTIFIC REPORTS, v. 9, JUL 26 2019. Web of Science Citations: 1.
MOLCK, MIRIAM COELHO; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; MONTEIRO, FABIOLA PAOLI; GIL-DA-SILVA-LOPES, VERA L. A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome. MOLECULAR SYNDROMOLOGY, v. 9, n. 4, p. 197-204, 2018. Web of Science Citations: 0.
MOLCK, MIRIAM COELHO; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; SGARDIOLI, ILARIA CRISTINA; MONTEIRO, FABIOLA PAOLI; SOUZA, JOSIANE; FETT-CONTE, AGNES CRISTINA; FELIX, TEMIS MARIA; MONLLEO, ISABELLA LOPES; GIL-DA-SILVA-LOPES, VERA LUCIA. Genomic imbalances in syndromic congenital heart disease. Jornal de Pediatria, v. 93, n. 5, p. 497-507, SEP-OCT 2017. Web of Science Citations: 5.
MIRIAM COELHO MOLCK; MILENA SIMIONI; TÁRSIS PAIVA VIEIRA; ILÁRIA CRISTINA SGARDIOLI; FABÍOLA PAOLI MONTEIRO; JOSIANE SOUZA; AGNES CRISTINA FETT-CONTE; TÊMIS MARIA FÉLIX; ISABELLA LOPES MONLLÉO; VERA LÚCIA GIL-DA-SILVA-LOPES. Genomic imbalances in syndromic congenital heart disease,. Jornal de Pediatria, v. 93, n. 5, p. -, Out. 2017.
MOLCK, MIRIAM COELHO; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; MONTEIRO, FABIOLA PAOLI; GIL-DA-SILVA-LOPES, VERA L. A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4. MOLECULAR SYNDROMOLOGY, v. 8, n. 3, p. 161-167, 2017. Web of Science Citations: 0.
MOLCK, MIRIAM C.; MONTEIRO, FABIOLA P.; SIMIONI, MILENA; GIL-DA-SILVA-LOPES, VERA L. 8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, v. 36, n. 7, p. 544-548, SEP 2015. Web of Science Citations: 3.
MOLCK, MIRIAM COELHO; VIEIRA, TARSIS PAIVA; SIMIONI, MILENA; SGARDIOLI, ILARIA CRISTINA; DOS SANTOS, ANA PAULA; XAVIER, ANA CAROLINA; GIL-DA-SILVA-LOPES, VERA LUCIA. Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 167, n. 1, p. 215-220, JAN 2015. Web of Science Citations: 3.
SIMIONI, MILENA; ARAUJO, TANIA KAWASAKI; MONLLEO, ISABELLA LOPES; MAURER-MORELLI, CLAUDIA VIANNA; GIL-DA-SILVA-LOPES, VERA LUCIA. Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. JOURNAL OF HUMAN GENETICS, v. 60, n. 1, p. 17-25, JAN 2015. Web of Science Citations: 14.
SGARDIOLI, ILARIA CRISTINA; SIMIONI, MILENA; VIGUETTI-CAMPOS, NILMA LUCIA; PROTA, JOANA ROSA; GIL-DA-SILVA-LOPES, VERA LUCIA. A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion. Gene, v. 523, n. 2, p. 192-194, JUL 10 2013. Web of Science Citations: 4.
SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; SGARDIOLI, ILARIA CRISTINA; FREITAS, ERIKA LOPES; ROSENBERG, CARLA; MAURER-MORELLI, CLAUDIA VIANNA; LOPES-CENDES, ISCIA; FETT-CONTE, AGNES CRISTINA; GIL-DA-SILVA-LOPES, VERA LUCIA. Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 158A, n. 11, p. 2905-2910, NOV 2012. Web of Science Citations: 9.

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