A5009562082- Cleft Lip and Palate Research
- Ocular Disorders and Treatments
- Craniofacial Disorders and Treatments
- Genomics and Rare Diseases
- Congenital Ear and Nasal Anomalies
- Immunodeficiency and Autoimmune Disorders
- Cystic Fibrosis Research Advances
- Genetic factors in colorectal cancer
- Oral and Craniofacial Lesions
- Digestive system and related health
- Nonmelanoma Skin Cancer Studies
- Tracheal and airway disorders
- Ocular Oncology and Treatments
- Genomic variations and chromosomal abnormalities
Universidade Estadual de Campinas (UNICAMP)
2020-2024
Hospital de Clínicas da Unicamp
2023
Genomic (Brazil)
2020
Universidade Federal de São Paulo
2006
The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil.
Abstract This article reports the present situation of Brazilian health care in genetics for Orofacial Cleft (OFC) and 22q11.2 Deletions Syndrome (22q11.2 DS) based on research conducted by Brazil's Craniofacial Project (BCFP). Established 2003, BCFP is a voluntary cooperative network aiming to investigate people with these diseases other craniofacial anomalies. The initiatives results are presented four sections: (a) comprehensive report public system genetics; (b) multicentric studies...
To review all cases of orbit exenteration performed at the Orbit Sector, Ophthalmology Department - Federal University São Paulo, from 1998 to 2003.We reviewed conditions leading orbital in 21 patients Sector Unifesp-EPM August May 2003. Data regarding sex, age, race, primary lesion site, visual acuity moment diagnosis, previous surgeries related exenteration, type surgery, histopathologic postoperative complications and use adjuvant treatment were collected.21 patient charts retrospectively...
Abstract Orofacial clefts (OC) are the most common birth defects in humans and approximately 30% of them form group syndromic orofacial (SOCs). Microphthalmia/anophthalmia/coloboma spectrum (MAC) can be associated with OC, however genetic etiologies OC-MAC have been poorly characterized. This study describes genomic findings among individuals recorded Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) Whole exome sequencing (WES) were performed 17...