Velocardiofacial syndrome: laboratorial investigation and phenocopy possibilyts

• Grant number: 09/08756-1
• Support Opportunities: Regular Research Grants
• Start date: October 01, 2009
• End date: September 30, 2011
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Vera Lúcia Gil da Silva Lopes
• Grantee: Vera Lúcia Gil da Silva Lopes
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Scientific publications

(9)

(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)

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. (09/08756-1, 12/51799-6, 08/10596-0, 11/23794-7)

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. (11/23794-7, 09/08756-1, 08/10596-0)

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. (11/23794-7, 09/08756-1, 08/10596-0)

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. (09/08756-1, 12/51799-6, 08/10596-0, 11/23794-7)

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. (11/23794-7, 09/08756-1, 08/10596-0)

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. Desequilíbrios genômicos na cardiopatia congênita sindrômica,. Jornal de Pediatria, v. 93, n. 5, p. 497-507, 2017-10-00. (08/10596-0, 11/23794-7, 09/08756-1)

VIEIRA, TARSIS P.; MONTEIRO, FABIOLA P.; SGARDIOLI, ILARIA C.; SOUZA, JOSIANE; FETT-CONTE, AGNES C.; MONLLEO, ISABELLA L.; FONTES, MARSHALL B.; FELIX, TEMIS M.; LEAL, GABRIELA F.; RIBEIRO, ERLANE MARQUES; et al. Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities. CLEFT PALATE-CRANIOFACIAL JOURNAL, v. 52, n. 4, p. 411-416, JUL 2015. (09/08756-1)

SGARDIOLI, ILARIA C.; VIEIRA, TARSIS P.; SIMIONI, MILENA; MONTEIRO, FABIOLA P.; GIL-DA-SILVA-LOPES, VERA L.. 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening. JOURNAL OF PEDIATRIC GENETICS, v. 4, n. 1, p. 17-22, MAR 2015. (09/08756-1)

VIEIRA, TARSIS PAIVA; SGARDIOLI, ILARIA CRISTINA; GIL-DA-SILVA-LOPES, VERA LUCIA. Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing. JOURNAL OF COMMUNITY GENETICS, v. 4, n. 1, p. 8-pg., 2013-01-01. (09/08756-1)