Browsing by Author Soardi, Fernanda Caroline

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PreviewIssue DateTitleAuthor(s)AdvisorType
1-Nov-2012Frasier syndrome: four new cases with unusual presentationsGuaragna, 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-Artigo de periódico
1-Nov-2008Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screeningSoardi, 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-Artigo de periódico
1-Nov-2008Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiencyGuerra-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-Artigo de periódico
1-Nov-2008Clinical and genetic findings of five patients with WT1-related disordersAndrade, Juliana Gabriel R. de; Guaragna, Mara Sanches; Soardi, Fernanda Caroline; Guerra-Júnior, Gil; Mello, Maricilda Palandi de; Maciel-Guerra, Andréa Trevas-Artigo de periódico
2008Mutações novas dos genes CYP21A2 e CYP11B1 e suas alferações na atividade enzimaticaSoardi, Fernanda CarolineMello, Maricilda Palandi de; Sonati, Maria de Fátima, 1958-TESE
2011Molecular Diagnosis Of 5α-reductase Type Ii Deficiency In Brazilian Siblings With 46,xy Disorder Of Sex Development.Leme de Calais, Flávia Leme; Soardi, Fernanda Caroline; Petroli, Reginaldo José; Lusa, Ana Letícia Gori; de Paiva E Silva, Roberto Benedito; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil; de Mello, Maricilda Palandi-Artigo de periódico
2008Absence Of Mutations In Pax6 Gene In Three Cases Of Morning Glory Syndrome Associated With Isolated Growth Hormone Deficiency.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-Artigo de periódico
2008Heterozygosis For Cyp21a2 Mutation Considered As 21-hydroxylase Deficiency In Neonatal Screening.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-Artigo de periódico
1-Nov-2010Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1Fabbri, 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-Artigo de periódico
1-Nov-2010Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutationSoardi, Fernanda Caroline; Esquiaveto-Aun, Adriana Mangue; Guerra-Júnior, Gil; Lemos-Marini, Sofia Helena Valente de; de Mello, Maricilda Palandi-Artigo de periódico
2010Structural Aspects Of The P.p222q Homozygous Mutation Of Hsd3b2 Gene In A Patient With Congenital Adrenal Hyperplasia.Lusa, Letícia Gori; Lemos-Marini, Sofia Helena Valente de; Soardi, Fernanda Caroline; Ferraz, Lucio Fabio Caldas; Guerra-Júnior, Gil; Mello, Maricilda Palandi de-Artigo de periódico
2010Long-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.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-Artigo de periódico
2010Phenotypic Variability In A Family With X-linked Adrenoleukodystrophy Caused By The P.trp132ter Mutation.Soardi, Fernanda Caroline; Esquiaveto-Aun, Adriana Mangue; Guerra-Júnior, Gil; Lemos-Marini, Sofia Helena Valente de; Mello, Maricilda Palandi de-Artigo de periódico
2014The Novel P.cys65tyr Mutation In Nr5a1 Gene In Three 46,xy Siblings With Normal Testosterone Levels And Their Mother With Primary Ovarian Insufficiency.Fabbri, Helena Campos; de Andrade, Juliana Gabriel Ribeiro; Soardi, Fernanda Caroline; de Calais, Flávia Leme; Petroli, Reginaldo José; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil; de Mello, Maricilda Palandi-Artigo de periódico
2013New Mutation In The Myocilin Gene Segregates With Juvenile-onset Open-angle Glaucoma In A Brazilian Family.Braghini, Carolina Ayumi; Neshich, Izabella Agostinho Pena; Neshich, Goran; Soardi, Fernanda Caroline; de Mello, Maricilda Palandi; Costa, Vital Paulino; de Vasconcellos, José Paulo Cabral; de Melo, Mônica Barbosa-Artigo de periódico
2012Frasier Syndrome: Four New Cases With Unusual Presentations.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; Mello, Maricilda Palandi De-Artigo de periódico
2010The Novel Wt1 Gene Mutation P.h377n Associated To Denys-drash Syndrome.Guaragna, Mara Sanches; Soardi, Fernanda Caroline; Assumpção, Juliana Godoy; Zambaldi, Lílian de Jesus Girotto; Cardinalli, Izilda Aparecida; Yunes, José Andrés; de Mello, Maricilda Palandi; Brandalise, Silvia Regina; Aguiar, Simone dos Santos-Artigo de periódico
1-Nov-2010Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasiaLusa, Letícia Gori; Lemos-Marini, Sofia Helena Valente de; Soardi, Fernanda Caroline; Ferraz, Lucio Fabio Caldas; Guerra-Júnior, Gil; Mello, Maricilda Palandi de-Artigo de periódico