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

Clinical and genetic findings of five patients with WT1-related disorders

by Andrade,Juliana Gabriel R. de, Guaragna,Mara Sanches, Soardi,Fernanda Caroline, Guerra-Júnior,Gil, Mello,Maricilda Palandi de, Maciel-Guerra,Andréa Trevas
Published 2008

Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia

by Lusa,Letícia Gori, Lemos-Marini,Sofia Helena Valente de, Soardi,Fernanda Caroline, Ferraz,Lucio Fabio Caldas, Guerra-Júnior,Gil, Mello,Maricilda Palandi de
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

Contribution of rs1799998 polymorphism in CYP11B2 gene in susceptibility to preeclampsia

by Bezerra,Kaio Raffael Valotta, Tanaka,Sarah Cristina Sato Vaz, Silva,Vanessa Resende Souza, Paschoinni,Marina Carvalho, Grecco,Roseane Lopes da Silva, Soardi,Fernanda Caroline, Balarin,Marly Aparecida Spadotto
Published 2020

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

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency

by Guerra-Junior,Gil, Spinola-Castro,Angela Maria, Siviero-Miachon,Adriana A., Nogueira,Roberto Gomes, Lemos-Marini,Sofia Helena V., D'Souza-Li,Lilia Freire Rodrigues, Silva,Priscila Cristina da, França,Emerson Salvador S., Soardi,Fernanda Caroline, Mello,Maricilda Palandi de
Published 2008

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

by Fabbri,Helena Campos, Mello,Maricilda Palandi de, Soardi,Fernanda Caroline, Esquiaveto-Aun,Adriana Mangue, Oliveira,Daniel Minutti de, Denardi,Fernanda Canova, Moura-Neto,Arnaldo, Garmes,Heraldo Mendes, Baptista,Maria Tereza Matias, Matos,Patrícia Sabino de, Lemos-Marini,Sofia Helena Valente de, D'Souza-Li,Lilia Freire Rodrigues, Guerra-Júnior,Gil
Published 2010