Search Results - "Macedo, Delanie"

DLK1, Notch Signaling and the Timing of Puberty by Macedo, Delanie B, Kaiser, Ursula B

“…The factors that trigger human puberty are among the central mysteries of reproductive biology. Several approaches, including mutational analysis of candidate…”
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The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty by Brito, Vinicius N, Canton, Ana P M, Seraphim, Carlos Eduardo, Abreu, Ana Paula, Macedo, Delanie B, Mendonca, Berenice B, Kaiser, Ursula B, Argente, Jesús, Latronico, Ana Claudia

“…Abstract The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including congenital and acquired causes that can be associated with…”
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A new pathway in the control of the initiation of puberty: the MKRN3 gene by Abreu, Ana Paula, Macedo, Delanie B, Brito, Vinicius N, Kaiser, Ursula B, Latronico, Ana Claudia

“…Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The role of MKRN3, an imprinted…”
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Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3 by Abreu, Ana Paula, Dauber, Andrew, Macedo, Delanie B, Noel, Sekoni D, Brito, Vinicius N, Gill, John C, Cukier, Priscilla, Thompson, Iain R, Navarro, Victor M, Gagliardi, Priscila C, Rodrigues, Tânia, Kochi, Cristiane, Longui, Carlos Alberto, Beckers, Dominique, de Zegher, Francis, Montenegro, Luciana R, Mendonca, Berenice B, Carroll, Rona S, Hirschhorn, Joel N, Latronico, Ana Claudia, Kaiser, Ursula B

“…Little is known about genetic control of the timing of puberty. This study implicates an imprinted gene, MKRN3, in familial central precocious puberty. The…”
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Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty by Dauber, 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., Labilloy, Guillaume, Bessa, Danielle S., Carroll, Rona S., Jacobs, Dakota C., Chappell, Patrick E., Mendonca, Berenice B., Haig, David, Kaiser, Ursula B., Latronico, Ana Claudia

“…Abstract Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic–pituitary–gonadal axis. Few genetic causes of CPP have…”
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DLK1 Is a Novel Link Between Reproduction and Metabolism by Gomes, Larissa G, Cunha-Silva, Marina, Crespo, Raiane P, Ramos, Carolina O, Montenegro, Luciana R, Canton, Ana, Lees, Melissa, Spoudeas, Helen, Dauber, Andrew, Macedo, Delanie B, Bessa, Danielle S, Maciel, Gustavo A, Baracat, Edmund C, Jorge, Alexander A L, Mendonca, Berenice B, Brito, Vinicius N, Latronico, Ana Claudia

“…Delta-like homolog 1 (DLK1), also called preadipocyte factor 1, prevents adipocyte differentiation and has been considered a molecular gatekeeper of…”
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High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic by Bessa, Danielle S, Macedo, Delanie B, Brito, Vinicius N, França, Monica M, Montenegro, Luciana R, Cunha-Silva, Marina, Silveira, Leticia G, Hummel, Tiago, Bergadá, Ignacio, Braslavsky, Debora, Abreu, Ana Paula, Dauber, Andrew, Mendonca, Berenice B, Kaiser, Ursula B, Latronico, Ana Claudia

“…Recently, loss-of-function mutations in the MKRN3 gene have been implicated in the etiology of familial central precocious puberty (CPP) in both sexes. We…”
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Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations by Seraphim, Carlos Eduardo, Canton, Ana Pinheiro Machado, Montenegro, Luciana, Piovesan, Maiara Ribeiro, Macedo, Delanie B, Cunha, Marina, Guimaraes, Aline, Ramos, Carolina Oliveira, Benedetti, Anna Flavia Figueiredo, de Castro Leal, Andrea, Gagliardi, Priscila C, Antonini, Sonir R, Gryngarten, Mirta, Arcari, Andrea J, Abreu, Ana Paula, Kaiser, Ursula B, Soriano-Guillén, Leandro, Escribano-Muñoz, Arancha, Corripio, Raquel, Labarta, José I, Travieso-Suárez, Lourdes, Ortiz-Cabrera, Nelmar Valentina, Argente, Jesús, Mendonca, Berenice B, Brito, Vinicius N, Latronico, Ana Claudia

“…Abstract Context Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty…”
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Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region by Macedo, Delanie B, França, Monica M, Montenegro, Luciana R, Cunha-Silva, Marina, Best, Danielle S, Abreu, Ana Paula, Kaiser, Ursula B, Mendonca, Berenice B, Jorge, Alexander A L, Brito, Vinicius N, Latronico, Ana Claudia

“…Loss-of-function mutations in the coding region of MKRN3, a maternally imprinted gene at chromosome 15q11.2, are a common cause of familial central precocious…”
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New causes of central precocious puberty: the role of genetic factors by Bulcao Macedo, Delanie, Nahime Brito, Vinicius, Latronico, Ana Claudia

“…A pivotal event in the onset of puberty in humans is the reemergence of the pulsatile release of the gonadotropin-releasing hormone (GnRH) from hypothalamic…”
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Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 by Macedo, Delanie B, Abreu, Ana Paula, Reis, Ana Claudia S, Montenegro, Luciana R, Dauber, Andrew, Beneduzzi, Daiane, Cukier, Priscilla, Silveira, Leticia F. G, Teles, Milena G, Carroll, Rona S, Junior, Gil Guerra, Filho, Guilherme Guaragna, Gucev, Zoran, Arnhold, Ivo J. P, de Castro, Margaret, Moreira, Ayrton C, Martinelli, Carlos Eduardo, Hirschhorn, Joel N, Mendonca, Berenice B, Brito, Vinicius N, Antonini, Sonir R, Kaiser, Ursula B, Latronico, Ana Claudia

“…Context: Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene located on the long arm of chromosome 15, have been recognized recently…”
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Premature Pubarche due to Exogenous Testosterone Gel or Intense Diaper Rash Prevention Cream Use: A Case Series by Ramos, Carolina de Oliveira, Macedo, Delanie Bulcão, Bachega, Tania Aparecida Sartori Sanchez, Nascimento, Marilza Leal, Madureira, Guiomar, Latronico, Ana Claudia, Brito, Vinicius Nahime, de Mendonca, Berenice Bilharinho

“…Premature pubarche is associated with conditions such as virilizing congenital adrenal hyperplasia, androgen-secreting tumors, and exogenous exposure to…”
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Methylome profiling of healthy and central precocious puberty girls by Bessa, Danielle S, Maschietto, Mariana, Aylwin, Carlos Francisco, Canton, Ana P M, Brito, Vinicius N, Macedo, Delanie B, Cunha-Silva, Marina, Palhares, Heloísa M C, de Resende, Elisabete A M R, Borges, Maria de Fátima, Mendonca, Berenice B, Netchine, Irene, Krepischi, Ana C V, Lomniczi, Alejandro, Ojeda, Sergio R, Latronico, Ana Claudia

“…Recent studies demonstrated that changes in DNA methylation (DNAm) and inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty…”
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Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case by Stecchini, Monica F, Macedo, Delanie B, Reis, Ana Claudia S, Abreu, Ana Paula, Moreira, Ayrton C, Castro, Margaret, Kaiser, Ursula B, Latronico, Ana Claudia, Antonini, Sonir R

“…Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). We…”
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Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation by Macedo, Delanie Bulcão, Silveira, Letícia Ferreira Gontijo, Bessa, Danielle Souza, Brito, Vinicius Nahime, Latronico, Ana Claudia

“…Precocious puberty has been classically defined as the onset of sexual secondary characteristics in girls younger than 8 years and in boys younger than 9…”
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A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy by Ludwig, 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

“…Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic…”
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Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study by Menk, Tais A S, Inácio, Marlene, Macedo, Delanie B, Bessa, Danielle S, Latronico, Ana C, Mendonca, Berenice B, Brito, Vinicius Nahime

“…The objective of the study was to determine the stress levels of girls with central precocious puberty (CPP) before and during treatment with a long-acting…”
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Gradenigo’s Syndrome: Beyond the Classical Triad of Diplopia, Facial Pain and Otorrhea by Pedroso, JoséLuiz, Aquino, Camila Catherine Henriques de, Abrahão, Agessandro, de Oliveira, Ricardo Araújo, Pinto, Lauro Figueira, Bezerra, Márcio Luis Escórcio, Beuttenmuller Gonçalves Silva, Antonio, Bulcão de Macedo, Francisca Delanie, Mendes, Ana Valéria de Melo, Barsottini, Orlando Graziani Povoas

“…We report a case of a non-Hodgkin’s lymphoma in a young woman presenting with an abdominal mass and an unusual instance of cranial nerve palsies mimicking…”
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Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination by Magnotto, John C, Mancini, Alessandra, Bird, Keisha, Montenegro, Luciana, Tütüncüler, Filiz, Pereira, Sidney A, Simas, Vitoria, Garcia, Leonardo, Roberts, Stephanie A, Macedo, Delanie, Magnuson, Melissa, Gagliardi, Priscila, Mauras, Nelly, Witchel, Selma F, Carroll, Rona S, Latronico, Ana Claudia, Kaiser, Ursula B, Abreu, Ana Paula

“…Abstract Context Loss-of-function mutations in the maternally imprinted genes, MKRN3 and DLK1, are associated with central precocious puberty (CPP). Mutations…”
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Advances in the etiology, diagnosis and treatment of central precocious puberty by Macedo, Delanie B, Cukier, Priscilla, Mendonca, Berenice B, Latronico, Ana Claudia, Brito, Vinicius Nahime

“…The onset of puberty is first detected as an increase in the amplitude and frequency of pulses of gonadotropin-releasing hormone (GnRH) after a quiescent…”
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