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

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Issue DateTitleAuthor(s)
2014TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patientsNOEL, Sekoni D.; ABREU, Ana Paula; XU, Shuyun; MUYIDE, Titilayo; GIANETTI, Elena; TUSSET, Cintia; CARROLL, Jessica; LATRONICO, Ana Claudia; SEMINARA, Stephanie B.; CARROLL, Rona S., et al
2019Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical CarcinomaMOHAN, Dipika R.; LERARIO, Antonio Marcondes; ELSE, Tobias; MUKHERJEE, Bhramar; ALMEIDA, Madson Q.; VINCE, Michelle; REGE, Juilee; MARIANI, Beatriz M. P.; ZERBINI, Maria Claudia N.; MENDONCA, Berenice B., et al
2014Targeted High-Throughput Sequencing of RAS/MAPK Pathway Genes for Diagnosis of Noonan Syndrome (NS) and Noonan-Related Disorders (NRD)MALAQUIAS, Alexsandra C.; MORAES, Michelle B.; LERARIO, Antonio M.; TRARBACH, Ericka Barbosa; MITNE-NETO, Miguel; PEREIRA, Alexandre; BERTOLA, Debora R.; TELES, Milena Gurgel; JORGE, Alexander Augusto Lima
2016Targeted Massively Parallel Sequencing for the Molecular Diagnosis of 46, XY Disorders of Sex Development (DSD)GOMES, N. L.; LERARIO, A. M.; FRANCA, M. M.; NISHI, M. Y.; FUNARI, M. F.; COSTA, E. M. F.; FARIA JUNIOR, J. A. D.; BATISTA, R. L.; DOMENICE, S.; MENDONCA, B. B.
2017Targeted Massively Parallel Sequencing of 128 Candidate Genes Reveals a Potential Molecular Cause in 75% of Cases with Idiopathic, Severe or Familial Osteoporosis.ROCHA-BRAZ, Manuela; FRANCA, Monica; FERNANDES, Adriana; MARTIN, Regina; LERARIO, Antonio; MENDONCA, Berenice; FERRAZ-DE-SOUZA, Bruno
2022Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospitalNARCIZO, Amanda M.; CARDOSO, Lais C.; BENEDETTI, Anna F. F.; JORGE, Alexander A. L.; FUNARI, Mariana F. A.; BRAGA, Barbara L.; FRANCA, Monica M.; MONTENEGRO, Luciana R.; LERARIO, Antonio M.; NISHI, Mirian Y., et al
2014TARGETED RESEQUENCING FOUND POLYMORPHISMS IN COMMON METABOLIC PATHWAYS INVOLVED IN MALE INFERTILITYPIERI, Patrcia C.; LERARIO, Antonio M.; MARIE, Suely K. N.; SALDIVA, Paulo H. N.; HALLAK, Jorge
2020TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal lociDAVIS, Erica E.; BALASUBRAMANIAN, Ravikumar; KUPCHINSKY, Zachary A.; KEEFE JR., David L.; PLUMMER, Lacey; KHAN, Kamal; MECZEKALSKI, Blazej; HEATH, Karen E.; LOPEZ-GONZALEZ, Vanesa; BALLESTA-MARTINEZ, Mary J., et al
2018TCF21/POD-1, a Transcritional Regulator of SF-1/NR5A1, as a Potential Prognosis Marker in Adult and Pediatric Adrenocortical TumorsPASSAIA, Barbara dos Santos; DIAS, Matheus Henrique; KREMER, Jean Lucas; ANTONINI, Sonir Roberto Rauber; ALMEIDA, Madson Queiroz de; FRAGOSO, Maria Candida Barisson Villares; LOTFI, Claudimara Ferini Pacicco
2014Testicular Adrenal Rest Tumors in Patients with 21-Hyd roxylase DeficiencyMIRANDA, Mirela Costa de; MOREIRA, Ricardo Paranhos; GOMES, Larissa Garcia; MADUREIRA, Guiomar; MENDONCA, Berenice B.; BACHEGA, Tania A.
2023Testicular function of 46,XY subjects with differences of sex development (DSD) due to NR5A1 mutationsDALLAGO, Renata T.; BATISTA, Rafael Loch; GUERRA-JUNIOR, Gil; MACIEL-GUERRA, Andrea Trevas; BECK, Mayra S. El; COSTA, Elaine M. F.; INACIO, Marlene; NISHI, Mirian; DOMENICE, Sorahia; MENDONCA, Berenice B.
2017Testosterone and endocrine disruptors: Influence of endocrine disruptors on male reproductive tractFONTENELE, E.; QUEZADO, R.; BACHEGA, T. S.
2018Testosterone replacement in androgen insensitivity: is there an advantage?BATISTA, Rafael Loch; MENDONCA, Berenice Bilharinho
2019Testosterone therapy for women with low sexual desire: a position statement from the Brazilian Society of Endocrinology and MetabolismV, Rita Weiss; HOHL, Alexandre; ATHAYDE, Amanda; PARDINI, Dolores; GOMES, Larissa; OLIVEIRA, Monica de; MEIRELLES, Ricardo; CLAPAUCH, Ruth; SPRITZER, Poli Mara
2013The benign spectrum of hypothalamic hamartomas: Infrequent epilepsy and normal cognition in patients presenting with central precocious pubertyCUKIER, Priscilla; CASTRO, Luiz Henrique Martins; BANASKIWITZ, Natalie; TELES, Leandro Roberto; FERREIRA, Luiz Roberto Kobuti; ADDA, Carla Cristina; LEITE, Claudia da Costa; ARNHOLD, Ivo J. P.; MENDONCA, Berenice Bilharinho; LATRONICO, Ana Claudia, et al
2015The clinical, structural, and biological features of neovaginas: a comparison of the Frank and the McIndoe techniquesHAYASHIDA, Sylvia A.; SOARES- JR., Jose Maria; COSTA, Elaine M. F.; FONSECA, Angela M. da; MACIEL, Gustavo A. R.; MENDONCA, Berenice B.; BARACAT, Edmund C.
2014The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World?GONCALVES, Fernanda T.; FRIDMAN, Cintia; PINTO, Emilia M.; GUEVARA-AGUIRRE, Jaime; SHEVAH, Orit; ROSEMBLOOM, Arlan L.; HWA, Vivian; CASSORLA, Fernando; ROSENFELD, Ron G.; LINS, Theresa S. S., et al
2013The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasiaKAUPERT, L. C.; LEMOS-MARINI, S. H. V.; MELLO, M. P. De; MOREIRA, R. P.; BRITO, V. N.; JORGE, A. A. L.; LONGUI, C. A.; GUERRA JR., G.; MENDONCA, B. B.; BACHEGA, T. A.
2016The Frequency of Pathogenic Copy Number Variants in Children with Short Stature of Unknown EtiologyCANTON, A.; HOMMA, T.; FURUYA, T.; ROELA, R.; ARNHOLD, I; JORGE, A.
2014The Inhibitory Effects of Ketoconazole in Immortalized Pituitary Cell Lines Leading to Decreased Cell Viability Are Due to an Increase of Apoptosis Markers and Cell Cycle InhibitorsGUZZO, Mariana F.; CARVALHO, Luciani R. S.; BRONSTEIN, Marcello D.