Browsing "LIM/42 - Laboratório de Hormônios e Genética Molecular" by Title

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Issue DateTitleAuthor(s)
2019A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variantGOMES, Nathalia L.; PAULA, Leila C. P. de; SILVA, Juliana M.; SILVA, Thatiana E.; LERARIO, Antonio M.; NISHI, Mirian Y.; BATISTA, Rafael L.; FARIA JUNIOR, Jose A. D.; MORAES, Daniela; COSTA, Elaine M. F., et al
202346,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiencyGOMES, N. L.; COSTA, E. M. F.; INACIO, M.; MARTIN, R. M.; NISHI, M. Y.; CARVALHO, F. M.; SIRCILLI, M. H. P.; TIBOR, F. D.; DOMENICE, S.; MENDONCA, B. B.
201746,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiencyMENDONCA, Berenice B.; GOMES, Nathalia Lisboa; COSTA, Elaine M. F.; INACIO, Marlene; MARTIN, Regina M.; NISHI, Mirian Y.; CARVALHO, Filomena Marino; TIBOR, Francisco Denes; DOMENICE, Sorahia
201146,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity SyndromeARNHOLD, Ivo J. P.; MELO, Karla; COSTA, Elaine M. F.; DANILOVIC, Debora; INACIO, Marlene; DOMENICE, Sorahia; MENDONCA, Berenice B.
201146,XY DSD due to 17 beta-HSD3 Deficiency and 5 alpha-Reductase Type 2 DeficiencyINACIO, Marlene; SIRCILI, Maria Helena P.; BRITO, Vinicius N.; DOMENICE, Sorahia; OLIVEIRA-JUNIOR, Ari Alves; ARNHOLD, Ivo J. P.; TIBOR, Francisco D.; COSTA, Elaine M. F.; MENDONCA, Berenice B.
201446,XY DSD due to 17 Beta-Hydroxysteroid Dehydrogenase Type 3 DeficiencyMENDONCA, Berenice B.; COSTA, Elaine M.F.; INACIO, Marlene; OLIVEIRA JUNIOR, Ari A.; MARTIN, Regina M.; NISHI, Mirian Y.; MACHADO, Aline Z.; CARVALHO, Filomena Marino; DENES, Francisco Tibor; DOMENICE, Sorahia
202246,XY Partial gonadal dysgenesis; diagnosis and long-term outcome at pubertyCUCCARO, Rieko Tadokoro; HUGHES, Ieuan; COOLS, Martine; VIJVER, Koen van de; MENDONCA, Berenice Bilharinho de; DOMENICE, Sorahia; BATISTA, Rafael L.; DALLAGO, Renata Thomazini; GOMES, Nathalia Lisboa; COSTA, Elaine F., et al
2016A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapyLUDWIG, Natasha G.; RADAELI, Rafael F.; SILVA, Mariana M. X.; ROMERO, Camila M.; CARRILHO, Alexandre J. F.; BESSA, Danielle; MACEDO, Delanie B.; OLIVEIRA, Maria L.; LATRONICO, Ana Claudia; MAZZUCO, Tânia L.
2017A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndromeESTEPHAN, E.; SILVA, A.; MENDONCA, R.; CALDAS, V.; ZAMBON, A.; MARCHIORI, P.; HEISE, C.; REED, U.; ZANOTELI, E.
2015A Homozygous Point Mutation in the GH1 Promoter (-161T > C) Leads to Reduced GH Expression in Siblings with Isolated GH Deficiency (IGHD)CARVALHO, L.; MADEIRA, J.; MARTIN, R.; MONTENEGRO, L.; FRANCA, M.; COSTALONGA, E.; CORREA, F.; OTTO, A.; ARNHOLD, I; FREITAS, H., et al
2016A homozygous point mutation in the GH1 promoter (c.-223C > T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)MADEIRA, Joao L. O.; JORGE, Alexander A. L.; MARTIN, Regina M.; MONTENEGRO, Luciana R.; FRANCA, Marcela M.; COSTALONGA, Everlayny F.; CORREA, Fernanda A.; OTTO, Aline P.; ARNHOLD, Ivo J. P.; FREITAS, Helayne S., et al
2018A Lower Ki 67 Labelling Index (LI) Cut-Point Improves the Prognostic Assessment and Might Aid in the Diagnosis of Adult Adrenocortical TumorsMARTINS FILHO, Sebastiao N.; ALMEIDA, Madson Q.; SOARES, Ibere C.; WAKAMATSU, Alda; ALVES, Venancio; FRAGOSO, Maria C.; ZERBINI, Maria
2016A META-ANALYSIS OF THE ROLE OF ADJUVANT RADIOTHERAPY AFTER SURGERY FOR ADRENOCORTICAL CARCINOMASROUGI, Victor; BESSA, Jose; TANNO, Fabio; FERREIRA, Amanda; LOUSADA, Lia; ALMEIDA, Madson; ALMEDA, Cristiane; SROUGI, Miguel; MENDONCA, Berenice; HOFF, Ana, et al
2016A New GNRH1 Mutation in a Boy with Congenital Isolated Hypogonadotropic HypogonadismLIMA, L. Guimaraes; MONTENEGRO, L. Ribeiro; LERARIO, A. Marcondes; NISHI, M.; MENDONCA, B. B.; LATRONICO, A. C.; SILVEIRA, L. Ferreira Gontijo
2017A NEW INSIGHT FOR THE TREATMENT OF PRIMARY MACRONODULAR ADRENAL HYPERPLASIA: ADRENAL SPARING SURGERY EARLY OUTCOMESTANNO, Fabio; SROUGI, Victor; BRONDANI, Vania; ALMEIDA, Madson; MENDONCA, Berenice; SROUGI, Miguel; CHAMBO, Jose; FRAGOSO, Maria
2015A new pathway in the control of the initiation of puberty: the MKRN3 geneABREU, Ana Paula; MACEDO, Delanie B.; BRITO, Vinicius N.; KAISER, Ursula B.; LATRONICO, Ana Claudia
2012A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadismBATTISTIN, Claudilene; MENEZES FILHO, Hamilton Cabral de; DOMENICE, Sorahia; NISHI, Mirian Yumie; MANNA, Thais Della; KUPERMAN, Hilton; STEINMETZ, Leandra; DICHTCHEKENIAN, Vae; SETIAN, Nuvarte; DAMIANI, Durval
2017A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failureFRANCA, Monica M.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; NISHI, Mirian Y.; PITA, Carmem C.; FONTENELE, Eveline G. P.; MENDONCA, Berenice B.
2017A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian FamilyFRANCA, Monica M.; LERARIO, Antonio M.; FUNARI, Mariana F. A.; NISHI, Mirian Y.; NARCIZO, Amanda M.; MELLO, Maricilda P. de; GUERRA-JUNIOR, Gil; MACIEL-GUERRA, Andrea T.; MENDONCA, Berenice B.
2015A Novel OTX2 Mutation, P.H230L, Causes Hypopituitarism with Incomplete Penetrance: Exome Sequencing to Identify Modifier GenesMADEIRA, J.; MOREIRA, M.; FRANCA, M.; OTTO, A.; CORREA, F.; ARNHOLD, I.; MENDONCA, B.; FANG, Q.; MA, Q.; LI, J., et al