A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
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
Published in International journal of molecular sciences (28.12.2022)
Published in International journal of molecular sciences (28.12.2022)
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Journal Article
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
França, Monica M., Lerario, Antonio M., Funari, Mariana F.A., Nishi, Mirian Y., Narcizo, Amanda M., de Mello, Maricilda P., Guerra-Junior, Gil, Maciel-Guerra, Andrea T., Mendonça, Berenice B.
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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Journal Article
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations
Fabbri, Helena C., Ribeiro de Andrade, Juliana G., Maciel-Guerra, Andréa T., Guerra-Júnior, Gil, de Mello, Maricilda P.
Published in Sexual development (01.01.2016)
Published in Sexual development (01.01.2016)
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T allele of −344C T polymorphism in aldosterone synthase gene is not associated with resistant hypertension
Lacchini, Riccardo, Sabha, Maricene, Coeli, Fernanda B, Favero, Fabrício F, Yugar-Toledo, Juan, Izidoro-Toledo, Tatiane C, Sandrim, Valéria C, Tanus-Santos, José E, de Mello, Maricilda P, Moreno, Heitor
Published in Hypertension research (01.02.2009)
Published in Hypertension research (01.02.2009)
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Journal Article
Prevalence of genital abnormalities in neonates
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
Published in Jornal de pediatria (01.11.2012)
Published in Jornal de pediatria (01.11.2012)
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Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency
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
Published in BMC medical genetics (29.06.2010)
Published in BMC medical genetics (29.06.2010)
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Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Fabbri-Scallet, Helena, Werner, Ralf, Guaragna, Mara S., de Andrade, Juliana G.R., Maciel-Guerra, Andrea T., Hornig, Nadine C., Hiort, Olaf, Guerra-Júnior, Gil, de Mello, Maricilda P.
Published in Sexual development (01.02.2023)
Published in Sexual development (01.02.2023)
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Journal Article
Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin
de Oliveira, Leticia R., Longui, Carlos A., Guaragna-Filho, Guilherme, da Costa, José L., Lanaro, Rafael, Chiamolera, Maria I., de Mello, Maricilda P., Morcillo, André M., Maciel-Guerra, Andrea T., Guerra-Junior, Gil
Published in Sexual development (01.02.2023)
Published in Sexual development (01.02.2023)
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Journal Article
Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis
Andrade, Juliana G.R., Fabbri-Scallet, Helena, dos Santos, Ana P., Cools, Martine, Werner, Ralf, Hiort, Olaf, de Mello, Maricilda P., Guerra-Júnior, Gil, Maciel-Guerra, Andrea T.
Published in Sexual development (01.05.2020)
Published in Sexual development (01.05.2020)
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Journal Article
Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency
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
Published in BioMed research international (01.01.2014)
Published in BioMed research international (01.01.2014)
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Journal Article
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria
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.
Published in Biochemical and biophysical research communications (15.11.2013)
Published in Biochemical and biophysical research communications (15.11.2013)
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Journal Article
NPHS2 Mutations: A Closer Look to Latin American Countries
Guerra-Júnior, Gil, Belangero, Vera Maria Santoro, Maciel-Guerra, Andréa Trevas, Lutaif, Anna Cristina G. B., Guaragna, Mara Sanches, de Mello, Maricilda Palandi
Published in BioMed research international (01.01.2017)
Published in BioMed research international (01.01.2017)
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Journal Article
NPHS2 mutations account for only 15% of nephrotic syndrome cases
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
Published in BMC medical genetics (29.09.2015)
Published in BMC medical genetics (29.09.2015)
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Journal Article
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described
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.
Published in Nephrology (Carlton, Vic.) (01.09.2016)
Published in Nephrology (Carlton, Vic.) (01.09.2016)
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A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency
Kaupert, Laura C, Gomes, Larissa G, Brito, Vinícius N, Lemos-Marini, Sofia H V, de Mello, Maricilda P, Longui, Carlos A, Kochi, Cristiane, de Castro, Margaret, Guerra, Jr, Gil, Mendonca, Berenice B, Bachega, Tânia A S S
Published in Hormone research in paediatrics (01.01.2016)
Published in Hormone research in paediatrics (01.01.2016)
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Journal Article
A Search for Disorders of Sex Development among Infertile Men
Yabiku, Rafael S., Guaragna, Mara S., de Sousa, Lizandra M., Fabbri-Scallet, Helena, Mazzola, Taís N., Piveta, Cristiane S.C., de Souza, Marcela L., Guerra-Júnior, Gil, de Mello, Maricilda P., Maciel-Guerra, Andréa T.
Published in Sexual development (01.01.2018)
Published in Sexual development (01.01.2018)
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Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome
Petroli, Reginaldo J., Hiort, Olaf, Struve, Dagmar, Gesing, Julia K., Soardi, Fernanda C., Spínola-Castro, Angela M., Melo, Karla, Prado Arnhold, Ivo J., Maciel-Guerra, Andréa T., Guerra-Junior, Gil, Werner, Ralf, de Mello, Maricilda P.
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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Journal Article
Performance of Phalangeal Quantitative Ultrasound Parameters in the Evaluation of Reduced Bone Mineral Density Assessed By DX in Patients with 21 Hydroxylase Deficiency
Gonçalves, Ezequiel M, Sewaybricker, Leticia E, Baptista, Fatima, Silva, Analiza M, Carvalho, Wellington R.G, Santos, Allan O, de Mello, Maricilda P, Lemos-Marini, Sofia H.V, Guerra-Junior, Gil
Published in Ultrasound in medicine & biology (01.07.2014)
Published in Ultrasound in medicine & biology (01.07.2014)
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Journal Article
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome
Guaragna, Mara S., Ribeiro de Andrade, Juliana G., de Freitas Carli, Bárbara, Belangero, Vera M.S., Maciel-Guerra, Andréa T., Guerra-Júnior, Gil, de Mello, Maricilda P.
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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Journal Article
Novel Mutations in CYP11B1 Gene Leading to 11β-Hydroxylase Deficiency in Brazilian Patients
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
Published in The journal of clinical endocrinology and metabolism (01.09.2009)
Published in The journal of clinical endocrinology and metabolism (01.09.2009)
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