K162E - A rare and uncategorized CFTR variant causing cystic fibrosis.

Autor: Souza EL; Department of Pediatrics, School of Medicine of Bahia, Federal University of Bahia, Salvador, Brazil; Post-Graduation Program in Interactive Processes of Systems and Organs, Institute of Health Sciences, Federal University of Bahia, Salvador, Brazil; Post-Graduation in Medicine and Health, Federal University of Bahia, Salvador, Brazil; University Hospital Professor Edgard, Federal University of Bahia, Salvador, Brazil. Electronic address: ednalu@ufba.br., Ribeiro Mota L; Post-Graduation Program in Interactive Processes of Systems and Organs, Institute of Health Sciences, Federal University of Bahia, Salvador, Brazil., Leite Ferreira de Lima RL; Department of Biology, Institute of Biology, Federal University of Bahia, Salvador, Brazil. Electronic address: fdelima@ufba.br., Horejs Bittencourt P; University Hospital Professor Edgard, Federal University of Bahia, Salvador, Brazil., Castro Ribeiro Guedes VM; University Hospital Professor Edgard, Federal University of Bahia, Salvador, Brazil., Salinas D; Division of Pediatric Pulmonology, Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: dsalinas@chla.usc.edu.

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2021 May; Vol. 20 (3), pp. 489-491. Date of Electronic Publication: 2020 Jul 14.

Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.

Autor: Vieira GH; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, S.C., USA ; Department of Genetics, São Paulo State University, Botucatu, Rio de Janeiro, Brazil., Cook MM; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, S.C., USA., Ferreira De Lima RL; Institute of Biology, Federal University of Bahia, Salvador, Rio de Janeiro, Brazil., Frigério Domingues CE; Department of Genetics, São Paulo State University, Botucatu, Rio de Janeiro, Brazil., de Carvalho DR; Department of Genetics, São Paulo State University, Botucatu, Rio de Janeiro, Brazil., Soares de Paiva I; Department of Pediatrics, Faculty of Medical Sciences, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Moretti-Ferreira D; Department of Genetics, São Paulo State University, Botucatu, Rio de Janeiro, Brazil., Srivastava AK; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, S.C., USA ; Department of Genetics and Biochemistry, Clemson University, Clemson, S.C., USA.

Publikováno v: Molecular syndromology [Mol Syndromol] 2015 Feb; Vol. 6 (1), pp. 32-8. Date of Electronic Publication: 2015 Jan 21.

Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association.

Autor: de Azevedo Moreira LM; Laboratory of Human Genetics and Mutagenesis, Biology Institute, Federal University of Bahia, Barão de Geremoabo, Salvador, Bahia, Brazil. lazevedo@ufba.br, Matos MA, Schiper PP, Carvalho AF, Gomes IC, Rolemberg JC, Ferreira de Lima RL, Toralles MB

Publikováno v: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2010 Apr; Vol. 88 (4), pp. 228-31.