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

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Issue DateTitleAuthor(s)
2023p.Gln207Arg GH1 allelic variant associated to GH deficiency and specific intronic region may be a modulator of GH secretionSASSON, Tessa; DAUBER, Andrew; JORGE, Alexander; PANDEY, Amit; ARNHOLD, Ivo; CARVALHO, Luciani
2014p27 variant and corticotropinoma susceptibility: a genetic and in vitro studySEKIYA, Tomoko; BRONSTEIN, Marcello D.; BENFINI, Katiuscia; LONGUINI, Viviane C.; JALLAD, Raquel S.; MACHADO, Marcio C.; GONCALVES, Tatiana D.; OSAKI, Luciana H.; HIGASHI, Leonardo; VIANA- JR., Jose, et al
2013ParatireoidesMARTIN, Regina Matsunaga; REIS, Mariana Tenorio Antunes; BERTONCELLO, Silvia; CORRêA, Pedro Henrique Silveira
2018Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptorBATISTA, Rafael Loch; RODRIGUES, Andresa De Santi; MACHADO, Aline Zamboni; NISHI, Mirian Yumie; CUNHA, Flavia Siqueira; SILVA, Rosana Barbosa; COSTA, Elaine M. F.; MENDONCA, Berenice B.; DOMENICE, Sorahia
2017PARTIAL RECOVERY OF PITUITARY FUNCTION AFTER LINEAR GROWTH IN PATIENTS WITH CONGENITAL COMBINED PITUITARY HORMONE DEFICIENCY (CPHD)MADEIRA, Joao L. O.; BISCOTTO, Isabela P.; CORREA, Fernanda A.; OTTO, Aline P.; COSTALONGA, Everlayny F.; FRANCA, Marcela M.; JORGE, Alexander; ARNHOLD, Ivo J.; MENDONCA, Berenice B.; CARVALHO, Luciani R.
2017PATERNALLY INHERITED DLK1 DELETION AS A NOVEL CAUSE OF FAMILIAL CENTRAL PRECOCIOUS PUBERTYDAUBER, Andrew; CUNHA-SILVA, Marina; MACEDO, Delanie; BRITO, Vinicius; ABREU, Ana Paula; ROBERTS, Stephanie; MONTENEGRO, Luciana; ANDREW, Melissa; KRIBY, Andrew; WEIRAUCH, Matthew, et al
2017Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious PubertyDAUBER, Andrew; CUNHA-SILVA, Marina; MACEDO, Delanie B.; BRITO, Vinicius N.; ABREU, Ana Paula; ROBERTS, Stephanie A.; MONTENEGRO, Luciana R.; ANDREW, Melissa; KIRBY, Andrew; WEIRAUCH, Matthew T., et al
2022Pathogenesis of Primary Aldosteronism: Impact on Clinical OutcomeSANTANA, Lucas S.; GUIMARAES, Augusto G.; ALMEIDA, Madson Q.
2016Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown EtiologyCANTON, Ana; HOMMA, Thais; FURUYA, Tatiane; ROELA, Rosimeire; ARNHOLD, Ivo; JORGE, Alexander
2018Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypesCORREA, Fernanda A.; JORGE, Alexander A. L.; NAKAGUMA, Marilena; CANTON, Ana P. M.; COSTA, Silvia S.; FUNARI, Mariana F.; LERARIO, Antonio M.; FRANCA, Marcela M.; CARVALHO, Luciani R.; KREPISCHI, Ana C. V., et al
2014Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyBEAR, Kelly A.; SOLOMON, Benjamin D.; ANTONINI, Sonir; ARNHOLD, Ivo J. P.; FRANCA, Marcela M.; GERKES, Erica H.; GRANGE, Dorothy K.; HADLEY, Donald W.; JAASKELAINEN, Jarmo; PAULO, Sabrina S., et al
2020Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHDGRANADILLO, Jorge Luis; STEGMANN, Alexander P.A.; GUO, Hui; XIA, Kun; ANGLE, Brad; BONTEMPO, Kelly; RANELLS, Judith D.; NEWKIRK, Patricia; COSTIN, Carrie; VIRONT, Joleen, et al
2020Pediatric adrenocortical tumor - review and management updateBRONDANI, Vania B.; V, Maria Candida B. Fragoso
2021Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex developmentMONTENEGRO, Luciana R.; LERARIO, Antonio M.; NISHI, Miriam Y.; JORGE, Alexander A. L.; MENDONCA, Berenice B.
2022Perioperative Management of Pheochromocytomas and Sympathetic ParagangliomasFAGUNDES, Gustavo F. C.; ALMEIDA, Madson Q.
2023PERIPHERAL PRECOCIOUS PUBERTY DUE TO A HCG-SECRETING TERATOMA IN PINEAL GLAND SITE: CHALLENGES IN THE DIAGNOSIS AND THERAPEUTIC MANAGEMENTBRITO, V; SANDERS, F. H.; SOUZA, V. C. M.; BOGER, B. S.; CRISTOFANI, L. M.; AZAMBUJA, A. P.; CANTON, A. P. M.; MENDONCA, B. B.; LATRONICO, A. C.
2015Peripheral Precocious Puberty in Girls with Mccune-Albright Syndrome: Treatment and OutcomesBARROSO, P.; RAMOS, C.; SILVA, M.; LIMA, L.; BESSA, D.; ARNHOLD, I; MENDONCA, B.; LATRONICO, A.; BRITO, V
2017Persistent Mullerian duct syndrome due to a mutation in the anti-Mullerian hormone receptor gene (AMHR2)OROS-MILLAN, M. Eugenia; MUNOZ-CALVO, M. Teresa; NISHI, Mirian Y.; MENDONCA, Berenice Bilharinho; ARGENTE, Jesus
2019Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level NormalizationROCHA, Thais; CRESPO, Raiane P.; YANCE, Viviane V. R.; HAYASHIDA, Sylvia A.; BARACAT, Edmund C.; CARVALHO, Filomena; DOMENICE, Sorahia; MENDONCA, Berenice B.; GOMES, Larissa G.
2021Persistent symptoms and decreased health-related quality of life after symptomatic pediatric COVID-19: A prospective study in a Latin American tertiary hospitalFINK, Thais T.; MARQUES, Heloisa H. S.; GUALANO, Bruno; LINDOSO, Livia; BAIN, Vera; ASTLEY, Camilla; MARTINS, Fernanda; MATHEUS, Denise; MATSUO, Olivia M.; SUGUITA, Priscila, et al