Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation

by Soardi,Fernanda Caroline, Esquiaveto-Aun,Adriana Mangue, Guerra-Júnior,Gil, Lemos-Marini,Sofia Helena Valente de, de Mello,Maricilda Palandi
Published 2010

Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

by Macedo,Luciana Cosentino de, Soardi,Fernanda Caroline, Ananias,Nayla, Belangero,Vera Maria Santoro, Rigatto,Sumara Zuazani Pinto, De-Mello,Maricilda Palandi, D'Souza-Li,Lília
Published 2008

Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene

by Coeli,Fernanda Borchers, Ferraz,Lúcio Fábio Caldas, Lemos-Marini,Sofia H. V. de, Rigatto,Sumara Zuanazi Pinto, Belangero,Vera Maria Santoro, de-Mello,Maricilda Palandi
Published 2008

Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening

by Soardi,Fernanda Caroline, Lemos-Marini,Sofia Helena V., Coeli,Fernanda Borchers, Maturana,Víctor Gonçalves, Silva,Márcia Duarte Barbosa da, Bernardi,Renan Darin, Justo,Giselle Zenker, de-Mello,Maricilda Palandi
Published 2008

Frasier syndrome: four new cases with unusual presentations

by Guaragna,Mara Sanches, Lutaif,Anna Cristina Gervásio de Britto, Bittencourt,Viviane Barros, Piveta,Cristiane Santos Cruz, Soardi,Fernanda Caroline, Castro,Luiz Claudio Gonçalves, Belangero,Vera Maria Santoro, Maciel-Guerra,Andréa Trevas, Guerra-Junior,Gil, De Mello,Maricilda Palandi
Published 2012

A inclusão de novas técnicas de análise citogenética aperfeiçoou o diagnóstico cromossômico da síndrome de Turner

by Barros,Beatriz Amstalden, Maciel-Guerra,Andréa Trevas, De Mello,Maricilda Palandi, Coeli,Fernanda Borchers, Carvalho,Annelise Barreto de, Viguetti-Campos,Nilma, Assumpção,Juliana de Godoy, Marques-de-Faria,Antonia Paula, Lemos-Marini,Sofia Helena Valente de, Guerra-Junior,Gil
Published 2009

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene

by Guaragna-Filho,Guilherme, Castro,Carla Cristina Telles de Sousa, De Carvalho,Rodrigo Ribeiro, Coeli,Fernanda Borchers, Ferraz,Lúcio Fábio Caldas, Petroli,Reginaldo José, De Mello,Maricilda Palandi, Sewaybricker,Letícia Esposito, Lemos-Marini,Sofia Helena Valente, D'Souza-Li,Lilia Freire Rodrigues, Miranda,Márcio Lopes, Maciel-Guerra,Andréa Trevas, Guerra-Junior,Gil
Published 2012

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency

by Castro,Carla Cristina Telles de Sousa, Guaragna-Filho,Guilherme, Calais,Flavia Leme, Coeli,Fernanda Borchers, Leal,Ianik Rafaela Lima, Cavalcante-Junior,Erisvaldo Ferreira, Monlleó,Isabella Lopes, Pereira,Silma Regina Ferreira, Silva,Roberto Benedito de Paiva e, Gabiatti,José Roberto Erbolato, Marques-de-Faria,Antonia Paula, Maciel-Guerra,Andrea Trevas, De Mello,Maricilda Palandi, Guerra-Junior,Gil
Published 2012