A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication by Francese-Santos, Ana Paula, Meinel, Jakob A, Piveta, Cristiane S C, Andrade, Juliana G R, Barros, Beatriz A, Fabbri-Scallet, Helena, Gil-da-Silva-Lopes, Vera Lúcia, Guerra-Junior, Gil, Künstner, Axel, Busch, Hauke, Hiort, Olaf, de Mello, Maricilda P, Werner, Ralf, Maciel-Guerra, Andréa T

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Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency by Coeli, Fernanda B, Soardi, Fernanda C, Bernardi, Renan D, de Araújo, Marcela, Paulino, Luciana C, Lau, Ivy F, Petroli, Reginaldo J, de Lemos-Marini, Sofia H V, Baptista, Maria T M, Guerra-Júnior, Gil, de-Mello, Maricilda P

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Normalização da estatura e excesso de adiposidade corporal em crianças com a forma perdedora de sal da deficiência da 21-hidroxilase by Mendes-dos-Santos, Carolina T, Lemos-Marini, Sofia H. V. de, Baptista, Maria Tereza M, Guerra-Junior, Gil, De-Mello, Maricilda P, Paulino, Maria Fernanda V. M, Morcillo, André M

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Prevalence of genital abnormalities in neonates by Monlleó, Isabella L, Zanotti, Susane V, Araújo, Bárbara Priscila B de, Cavalcante, Jr, Erisvaldo F, Pereira, Paula D, Barros, Paulo M de, Araújo, Maria Deysiane P, Mendonça, Ana Thaysa V S de, Santos, Catarina R S, Santos, Ylana R dos, Michelatto, Débora de Paula, Mello, Maricilda P de, Maciel-Guerra, Andrea T, Guerra-Júnior, Gil

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Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency by Martins, Conceição N., Machado, Aline Z., Santos, Mariza G., Domenice, Sorahia, Costa, Elaine M. F., Nishi, Mirian Yumi, Ferraz-de-Souza, Bruno, Jorge, Soraia A. C., Pereira, Carlos A., Soardi, Fernanda C., de Mello, Maricilda Palandi, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil, Mendonca, Berenice Bilharinho

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NPHS2 Mutations: A Closer Look to Latin American Countries by Guerra-Júnior, Gil, Belangero, Vera Maria Santoro, Maciel-Guerra, Andréa Trevas, Lutaif, Anna Cristina G. B., Guaragna, Mara Sanches, de Mello, Maricilda Palandi

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Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria by Guaragna, Mara S., Lutaif, Anna Cristina G.B., Piveta, Cristiane S.C., Belangero, Vera M.S., Maciel-Guerra, Andréa T., Guerra-Junior, Gil, De Mello, Maricilda P.

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NPHS2 mutations account for only 15% of nephrotic syndrome cases by Guaragna, Mara Sanches, Lutaif, Anna Cristina G B, Piveta, Cristiane S C, Souza, Marcela L, de Souza, Suéllen R, Henriques, Taciane B, Maciel-Guerra, Andréa T, Belangero, Vera M S, Guerra-Junior, Gil, De Mello, Maricilda P

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NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described by Guaragna, Mara S., Cleto, Thaís Lira, Souza, Marcela Lopes, Lutaif, Anna Cristina G.B., de Castro, Luiz Cláudio Gonçalves, Penido, Maria Goretti Moreira Guimarães, Maciel-Guerra, Andréa T., Belangero, Vera M.S., Guerra-Junior, Gil, De Mello, Maricilda P.

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Prevalência de anormalidades genitais em recém-nascidos by Monlleó, Isabella L., Zanotti, Susane V., Araújo, Bárbara Priscila B. de, Cavalcante Júnior, Erisvaldo F., Pereira, Paula D., Barros, Paulo M. de, Araújo, Maria Deysiane P., Mendonça, Ana Thaysa V. S. de, Santos, Catarina R. S., Santos, Ylana R. dos, Michelatto, Débora de Paula, Mello, Maricilda P. de, Maciel-Guerra, Andrea T., Guerra-Júnior, Gil

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Novel Mutations in CYP11B1 Gene Leading to 11β-Hydroxylase Deficiency in Brazilian Patients by Soardi, Fernanda C., Penachioni, Junia Y., Justo, Giselle Z., Bachega, Tânia A. S. S., Inácio, Marlene, Mendonça, Berenice B., de Castro, Margaret, de Mello, Maricilda P.

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Expression Evaluation of TRPC6 and PODXL Genes in Podocyte Cell Culture After Albumin Overload with and Without Puromycin-Aminoglycoside Damage: TH-PO783 by Guaragna, Mara S., Souza, Marcela L., Torsoni, Adriana S., Belangero, Vera Maria S., de Mello, Maricilda P.

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Expression Evaluation of CD2AP, ITGA3, and ITGB1 in Podocyte Cell Culture After Albumin Overload with and Without Puromycin-Aminoglycoside Damage: SA-PO1024 by Guaragna, Mara S., Troleze, José R. Alves, Silva, Jackeline P. da, Souza, Marcela L., de Oliveira, Felipe R., Antonio, Heber, Santos, Luana dos, Mazzola, Taís N., Torsoni, Adriana S., Belangero, Vera Maria S., de Mello, Maricilda P.

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A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome by Lincoln-de-Carvalho, Carolina R., Vicente, Fabíola M.P., Vieira, Társis A.P., de Mello, Maricilda P., Marques-de-Faria, Antonia P.

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Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency by Mendes-Dos-Santos, Carolina T, Lemos-Marini, Sofia H V, Baptista, Maria Tereza M, Guerra-Junior, Gil, De-Mello, Maricilda P, Paulino, Maria Fernanda V M, Morcillo, André M

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Differential gene expression in response to copper in Acidithiobacillus ferrooxidans analyzed by RNA arbitrarily primed polymerase chain reaction by Paulino, Luciana Campos, de Mello, Maricilda P., Ottoboni, Laura M. M.

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The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency by 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

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Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants by dos Santos, Ana Paula, Andrade, Juliana Gabriel Ribeiro, Piveta, Cristiane Santos Cruz, de Paulo, Juliana, Guerra, Jr, Gil, de Mello, Maricilda Palandi, Maciel-Guerra, Andréa Trevas

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MON-056 Rare X Chromosome Pericentric Inversion Associated with Ovotesticular Disorder of Sex Development by Guerra-Junior, Gil, Santos, Ana Paula, Oliveira, Flavia M, Vieira, Tarsis A P, Campos, Nilma L V, Miranda, Marcio L, Guaragna, Mara S, Fabbri-Scallet, Helena, de Mello, Maricilda P, Maciel-Guerra, Andrea Trevas

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H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency by Lau, Ivy F., Soardi, Fernanda C., Lemos-Marini, Sofia H. V., Guerra Jr, Gil, Baptista, Maria Tereza M., De Mello, Maricilda P.

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