LIM/42 - Laboratório de Hormônios e Genética Molecular

LIM/42 - Laboratório de Hormônios e Genética Molecular

 

O Laboratório de Hormônios e Genética Molecular é ligado ao Departamento de Clínica Médica da Faculdade de Medicina da Universidade de São Paulo (FMUSP).

Linhas de pesquisa: distúrbios da determinação e diferenciação sexual; genética molecular; endocrinologia do desenvolvimento; distúrbios puberais; endocrinologia do desenvolvimento; genética molecular; tumorigênese adrenocortical; distúrbios do crescimento; endocrinologia do desenvolvimento; biologia molecular e transcrição gênica; hiperplasia adrenal congênita; transcrição gênica; genética molecular; receptor de andrógenos; citocromos hepáticos P450; disfunções e tumorigênese adrenocortical; genética molecular e tumorigênese hipofisária na doença de Cushing.

Site oficial: http://www.limhc.fm.usp.br/portal/lim42-laboratorio-de-hormonios-e-genetica-molecular/

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Recent Submissions

  • MACHADO, Marcio Carlos; FRAGOSO, Maria Candida Barisson Vilares; BRONSTEIN, Marcello Delano (W B SAUNDERS CO-ELSEVIER INC, PHILADELPHIA, USA, 2018)
    Progress in diagnosis and treatment of endocrine diseases has made pregnancy possible for women with endocrinopathies, including Cushing's syndrome (CS). The risk of maternal-fetal complications in patients who are not ...
  • SAITO, Hiroshi; NODA, Hiroshi; GATAULT, Philippe; BOCKENHAUER, Detlef; LOKE, Kah Yin; HIORT, Olaf; SILVE, Caroline; SHARWOOD, Erin; MARTIN, Regina Matsunaga; DILLON, Michael J.; GILLIS, David; HARRIS, Mark; RAO, Sudhaker D.; PAULI, Richard M.; GARDELLA, Thomas J.; JUPPNER, Harald (ENDOCRINE SOC, WASHINGTON, USA, 2018)
    Context: Five different activating PTH/PTH-related peptide (PTHrP) receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate ...
  • MANTOVANI, Giovanna; BASTEPE, Murat; MONK, David; SANCTIS, Luisa de; THIELE, Susanne; USARDI, Alessia; AHMED, S. Faisal; BUFO, Roberto; CHOPLIN, Timothee; FILIPPO, Gianpaolo De; DEVERNOIS, Guillemette; EGGERMANN, Thomas; ELLI, Francesca M.; FRESON, Kathleen; RAMIREZ, Aurora Garcia; GERMAIN-LEE, Emily L.; GROUSSIN, Lionel; HAMDY, Neveen; HANNA, Patrick; HIORT, Olaf; JUPPNER, Harald; KAMENICKY, Peter; KNIGHT, Nina; KOTTLER, Marie-Laure; NORCY, Elvire Le; LECUMBERRI, Beatriz; LEVINE, Michael A.; MAKITIE, Outi; MARTIN, Regina; MARTOS-MORENO, Gabriel Angel; MINAGAWA, Masanori; MURRAY, Philip; PEREDA, Arrate; PIGNOLO, Robert; REJNMARK, Lars; RODADO, Rebecca; ROTHENBUHLER, Anya; SARAFF, Vrinda; SHOEMAKER, Ashley H.; SHORE, Eileen M.; SILVE, Caroline; TURAN, Serap; WOODS, Philip; ZILLIKENS, M. Carola; NANCLARES, Guiomar Perez de; LINGLART, Agnes (NATURE PUBLISHING GROUP, NEW YORK, USA, 2018)
    This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings ...
  • KRAUSS, Tobias; FERRARA, Alfonso Massimiliano; LINKS, Thera P.; WELLNER, Ulrich; BANCOSS, Irina; KVACHENYUK, Andrey; HERAS, Karim Villar Gomez de las; YUKINA, Marina Y.; PETROV, Roman; BULLIVANT, Garrett; DUECKER, Laura von; JADHAV, Swati; PLOECKINGER, Ursula; WELIN, Staffan; SCHALIN-JANTTI, Camilla; GIMM, Oliver; PFEIFER, Marija; NGEOW, Joanne; HASSE-LAZAR, Kornelia; SANSO, Gabriela; QI, Xiaoping; UGURLU, M. Umit; DIAZ, Rene E.; WOHLLK, Nelson; PECZKOWSKA, Mariola; ABERLE, Jens; JR, Delmar M. Lourenco; PEREIRA, Maria A. A.; V, Maria C. B. Fragoso; HOFF, Ana O.; ALMEIDA, Madson Q.; VIOLANTE, Alice H. D.; OUIDUTE, Ana R. P.; ZHANG, Zhewei; RECASENS, Monica; DIAZ, Luis Robles; KUNAVISARUT, Tada; WANNACHALEE, Taweesak; SIRINVARAVONG, Sirinart; JONASCH, Eric; GROZINSKY-GLASBERG, Simona; FRAENKEL, Merav; BELTSEVICH, Dmitry; I, Viacheslav Egorov; BAUSCH, Dirk; SCHOTT, Matthias; TILING, Nikolaus; PENNELLI, Gianmaria; ZSCHIEDRICH, Stefan; DAERR, Roland; RUF, Juri; DENECKE, Timm; LINK, Karl-Heinrich; ZOVATO, Stefania; DOBSCHUETZ, Ernst von; YAREMCHUK, Svetlana; AMTHAUER, Holger; MAKAY, Ozer; PATOCS, Attila; WALZ, Martin K.; HUBER, Tobias B.; SEUFERT, Jochen; HELLMAN, Per; EKATERINA, Raymond H.; KUCHINSKAYA, Ekaterina; SCHIAVI, Francesca; MALINOC, Angelica; REISCH, Nicole; JARZAB, Barbara; BARONTINI, Marta; JANUSZEWICZ, Andrzej; SHAH, Nalini; YOUNG JR., William F.; OPOCHER, Giuseppe; ENG, Charis; NEUMANN, Hartmut P. H.; BAUSCH, Birke (BIOSCIENTIFICA LTD, BRISTOL, ENGLAND, 2018)
    Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival ...
  • PIPEK, Leonardo Zumerkorn; JARDIM, Yuri Justi; MESQUITA, Gustavo Heluani Antunes de; NII, Fernanda; MEDEIROS, Kayo Augusto de Almeida; CARVALHO, Barbara Justo; MARTINES, Diego Ramos; IUAMOTO, Leandro Ryuchi; WAISBERG, Daniel Reis; D'ALBUQUERQUE, Luiz Augusto Carneiro; MEYER, Alberto; ANDRAUS, Wellington (BAISHIDENG PUBLISHING GROUP INC, PLEASANTON, USA, 2018)
    Primary hepatic gastrinoma is a rare disease, with fewer than 40 cases reported in the medical literature. Because it is located in an organ in which metastases are common, its diagnosis is difficult. We report a case of ...
  • SOARES, Andressa Heimbecher; HORIE, Nidia Celeste; CHIANG, Lucas Augusto Piccinin; CARAMELLI, Bruno; MATHEUS, Mariana Gomes; CAMPOS, Alexandre Holthausen; MARTI, Luciana Cavalheiro; ROCHA, Fernanda Agostini; MANCINI, Marcio C.; COSTA, Elaine Maria Frade; CERCATO, Cintia (NATURE PUBLISHING GROUP, LONDON, ENGLAND, 2018)
    Background Obesity causes secondary hypogonadism (HG) in men. Standard testosterone (T) replacement therapy improves metabolic parameters but leads to infertility. Objective To evaluate clomiphene citrate (CC) treatment ...
  • LESSEL, Davor; GEHBAUER, Christina; BRAMSWIG, Nuria C.; SCHLUTH-BOLARD, Caroline; VENKATARAMANAPPA, Sathish; GASSEN, Koen L. I. van; HEMPEL, Maja; HAACK, Tobias B.; BARESIC, Anja; GENETTI, Casie A.; FUNARI, Mariana F. A.; LESSEL, Ivana; KUHLMANN, Leonie; SIMON, Ruth; LIU, Pentao; DENECKE, Jonas; KUECHLER, Alma; KRUIJFF, Ineke de; SHOUKIER, Moneef; LEK, Monkol; MULLEN, Thomas; LUEDECKE, Hermann-Josef; LERARIO, Antonio M.; KOBBE, Robin; KRIEGER, Thorsten; DEMEER, Benedicte; LEBRUN, Marine; KEREN, Boris; NAVA, Caroline; BURATTI, Julien; AFENJAR, Alexandra; SHINAWI, Marwan; SACOTO, Maria J. Guillen; GAUTHIER, Julie; HAMDAN, Fadi F.; LABERGE, Anne-Marie; CAMPEAU, Philippe M.; LOUIE, Raymond J.; CATHEY, Sara S.; PRINZ, Immo; JORGE, Alexander A. L.; TERHAL, Paulien A.; LENHARD, Boris; WIECZOREK, Dagmar; STROM, Tim M.; AGRAWAL, Pankaj B.; BRITSCH, Stefan; TOLOSA, Eva; KUBISCH, Christian (OXFORD UNIV PRESS, OXFORD, ENGLAND, 2018)
    The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development ...
  • LOPES, Mateus Cavarzan; RAMOS, Carolina Oliveira; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; BRITO, Vinicius N. (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2018)
    OBJECTIVES: Unfavorable predicted adult height and psychosocial inadequacy represent parameters used to guide therapeutic intervention in girls with central precocious puberty. Gonadotropin-releasing hormone analog is the ...
  • CRESPO, Raiane P.; BACHEGA, Tania A. S. S.; MENDONCA, Berenice B.; GOMES, Larissa G. (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2018)
    Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder that affects 5-20% of reproductive age women. PCOS clinical symptoms include hirsutism, menstrual dysfunction, infertility, obesity and metabolic ...
  • BAETENS, Dorien; GURAN, Tulay; MENDONCA, Berenice B.; GOMES, Nathalia L.; CAUWER, Lode De; PEELMAN, Frank; VERDIN, Hannah; VUYLSTEKE, Marnik; LINDEN, Malaika Van der; STOOP, Hans; LOOIJENGA, Leendert H.; BOSSCHER, Karolien De; COOLS, Martine; BAERE, Elfride De (NATURE PUBLISHING GROUP, NEW YORK, USA, 2018)
    Purpose: Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of ...
  • GOMES, Nathalia L.; LERARIO, Antonio Marcondes; MACHADO, Aline Zamboni; MORAES, Daniela Rodrigues de; SILVA, Thatiana Evilen da; ARNHOLD, Ivo J. P.; BATISTA, Rafael Loch; FARIA JUNIOR, Jose Antonio Diniz; COSTA, Elaine F.; NISHI, Mirian Y.; INACIO, Marlene; DOMENICE, Sorahia; MENDONCA, Berenice B. (WILEY, HOBOKEN, USA, 2018)
    BackgroundFollow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult. ObjectiveTo analyse the long-term outcomes of patients with 46,XY PGD ...
  • MACHADO, Marcio Carlos; FRAGOSO, Maria Candida Barisson Vilares; MOREIRA, Ayrton Custodio; BOGUSZEWSKI, Cesar Luiz; NETO, Leonardo Vieira; NAVES, Luciana A.; VILAR, Lucio; ARAUJO, Luiz Antonio de; MUSOLINO, Nina Rosa Castro; MIRANDA, Paulo Augusto C.; CZEPIELEWSKI, Mauro A.; GADELHA, Monica R.; BRONSTEIN, Marcello Delano; RIBEIRO-OLIVEIRA JR., Antonio (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2018)
    The treatment objectives for a patient with Cushing's disease (CD) are remission of hypercortisolism, adequate management of co-morbidities, restoration of the hypothalamic-pituitary-adrenal axis, preservation of fertility ...
  • CUNHA, Flavia Siqueira; DOMENICE, Sorahia; SIRCILI, Maria Helena Palma; MENDONCA, Berenice Bilharinho de; COSTA, Elaine Maria Frade (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2018)
    OBJECTIVE: The ideal dosage of cross-sex hormones remains unknown. The aim of this study was to evaluate the luteinizing hormone, follicle-stimulating hormone, testosterone, estradiol and prolactin levels after low-dose ...
  • RAMOS, Carolina O.; LATRONICO, Ana C.; CUKIER, Priscilla; MACEDO, Delanie B.; BESSA, Danielle S.; CUNHA-SILVA, Marina; ARNHOLD, Ivo J.; MENDONCA, Berenice B.; BRITO, Vinicius N. (KARGER, BASEL, SWITZERLAND, 2018)
    Background: Hypothalamic hamartoma (HH) represents the commonest cause of organic central precocious puberty (CPP). Follow-up of these patients in adulthood is scarce. Objective: To describe the anthropometric, metabolic, ...
  • CAMARA-DE-SOUZA, A. B.; TOYOSHIMA, M. T. K.; GIANNELLA, M. L.; FREIRE, D. S.; CAMACHO, C. P.; LOURENCO JR., D. M.; ROCHA, M. S.; BACCHELLA, T.; JUREIDINI, R.; MACHADO, M. C. C.; ALMEIDA, M. Q.; PEREIRA, M. A. A. (ELSEVIER SCIENCE BV, AMSTERDAM, NETHERLANDS, 2018)
    Background/objectives: Insulinoma is a rare pancreatic tumor and, usually, a benign disease but can be a malignant one and, sometimes, a highly aggressive disease. The aim of this study was to determine differences between ...
  • BATISTA, Rafael Loch; COSTA, Elaine M. Frade; RODRIGUES, Andresa de Santi; GOMES, Nathalia Lisboa; FARIA JR., Jose Antonio; NISHI, Mirian Y.; ARNHOLD, Ivo Jorge Prado; DOMENICE, Sorahia; MENDONCA, Berenice Bilharinho de (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2018)
    Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46, XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, ...
  • CUNHA-SILVA, M.; BRITO, V. N.; MACEDO, D. B.; BESSA, D. S.; RAMOS, C. O.; LIMA, L. G.; BARROSO, P. S.; ARNHOLD, I. J. P.; SEGALOFF, D. L.; MENDONCA, B. B.; LATRONICO, A. C. (OXFORD UNIV PRESS, OXFORD, ENGLAND, 2018)
    Testotoxicosis is a rare cause of peripheral precocious puberty in boys caused by constitutively activating mutations of the LHCG receptor. Affected males usually have normal gonadotropin profiles and fertility in their ...
  • MARTINS FILHO, Sebastiao N.; ALMEIDA, Madson Q.; SOARES, Ibere C.; WAKAMATSU, Alda; ALVES, Venancio; FRAGOSO, Maria C.; ZERBINI, Maria (NATURE PUBLISHING GROUP, NEW YORK, USA, 2018)
  • MARTINS FILHO, Sebastiao N.; ALMEIDA, Madson Q.; WAKAMATSU, Alda; ALVES, Venancio; FRAGOSO, Maria C.; ZERBINI, Maria (NATURE PUBLISHING GROUP, NEW YORK, USA, 2018)
  • ESTEPHAN, E.; SILVA, A.; MENDONCA, R.; CALDAS, V.; ZAMBON, A.; MARCHIORI, P.; HEISE, C.; REED, U.; ZANOTELI, E. (PERGAMON-ELSEVIER SCIENCE LTD, OXFORD, ENGLAND, 2017)

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