Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 (2014)
- Authors:
- 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.
- Guerra Junior, Gil
- Guaragna Filho, Guilherme
- Gucev, Zoran
- Arnhold, Ivo J. P.
- Castro, Margaret de
- Moreira, Ayrton C.
- Martinelli Jr., Carlos Eduardo
- Hirschhorn, Joel N.
- Mendonca, Berenice B.
- Brito, Vinicius N.
- Antonini, Sonir R.
- Kaiser, Ursula B.
- Latronico, Ana Claudia
- USP affiliated authors: MONTENEGRO, LUCIANA RIBEIRO - FM ; CASTRO, MARGARET DE - FMRP ; MOREIRA, AYRTON CUSTODIO - FMRP ; MENDONÇA, BERENICE BILHARINHO DE - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM ; ANTONINI, SONIR ROBERTO RAUBER - FMRP
- Unidades: FM; FMRP
- DOI: 10.1210/jc.2013-3126
- Subjects: CRIANÇAS; TÉCNICAS GENÉTICAS; PUBERDADE PRECOCE; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Publisher place: Springfield
- Date published: 2014
- Source:
- Título: Journal of Clinical Endocrinology and Metabolism
- ISSN: 0021-972X
- Volume/Número/Paginação/Ano: v. 99, n. 6, p. E1097-E1103, 2014
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
MACEDO, Delanie B. et al. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3. Journal of Clinical Endocrinology and Metabolism, v. 99, n. 6, p. E1097-E1103, 2014Tradução . . Disponível em: https://doi.org/10.1210/jc.2013-3126. Acesso em: 12 fev. 2026. -
APA
Macedo, D. B., Abreu, A. P., Reis, A. C. S., Montenegro, L. R., Dauber, A., Beneduzzi, D., et al. (2014). Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3. Journal of Clinical Endocrinology and Metabolism, 99( 6), E1097-E1103. doi:10.1210/jc.2013-3126 -
NLM
Macedo DB, Abreu AP, Reis ACS, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LFG, Teles MG, Carroll RS, Guerra Junior G, Guaragna Filho G, Gucev Z, Arnhold IJP, Castro M de, Moreira AC, Martinelli Jr. CE, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 [Internet]. Journal of Clinical Endocrinology and Metabolism. 2014 ; 99( 6): E1097-E1103.[citado 2026 fev. 12 ] Available from: https://doi.org/10.1210/jc.2013-3126 -
Vancouver
Macedo DB, Abreu AP, Reis ACS, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LFG, Teles MG, Carroll RS, Guerra Junior G, Guaragna Filho G, Gucev Z, Arnhold IJP, Castro M de, Moreira AC, Martinelli Jr. CE, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 [Internet]. Journal of Clinical Endocrinology and Metabolism. 2014 ; 99( 6): E1097-E1103.[citado 2026 fev. 12 ] Available from: https://doi.org/10.1210/jc.2013-3126 - Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome
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- Loss-of-function mutations in a gene cause central precocius puberty
- Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty
- Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region
- Congenital isolated hypogonadotropic hypogonadism: a detailed clinical and molecular characterization of a Brazilian patient cohort
- Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty
- Commom polymorphisms in GHRd3, IGFBP3 and IGF1 genes do not explain GH-IGF-I dissociation in treated acromegalic patients
- Time course of central precocious puberty development caused by an MKRN3 gene mutation: a prismatic care
- Mechanisms in endocrinology: a sense of time of the glucocorticoid circadian clock: from the ontogeny to the diagnosis of Cushing’s syndrome
Informações sobre o DOI: 10.1210/jc.2013-3126 (Fonte: oaDOI API)
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