A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication von 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

Volltext

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family von 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.

Volltext

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations von Fabbri, Helena C., Ribeiro de Andrade, Juliana G., Maciel-Guerra, Andréa T., Guerra-Júnior, Gil, de Mello, Maricilda P.

Volltext

T allele of −344C T polymorphism in aldosterone synthase gene is not associated with resistant hypertension von 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

Volltext

Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development? von 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.

Volltext

Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin von 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

Volltext

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis von 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.

Volltext

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency von 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

Volltext

Normalização da estatura e excesso de adiposidade corporal em crianças com a forma perdedora de sal da deficiência da 21-hidroxilase von 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

Volltext

Prevalence of genital abnormalities in neonates von 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

Volltext

Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency von 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

Volltext

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

Volltext

Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria von 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.

Volltext

NPHS2 mutations account for only 15% of nephrotic syndrome cases von 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

Volltext

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described von 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.

Volltext

A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency von 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.

Volltext

A Search for Disorders of Sex Development among Infertile Men von 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.

Volltext

Performance of Phalangeal Quantitative Ultrasound Parameters in the Evaluation of Reduced Bone Mineral Density Assessed By DX in Patients with 21 Hydroxylase Deficiency von 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

Volltext

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome von 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.

Volltext

Prevalência de anormalidades genitais em recém-nascidos von 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

Volltext