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Items: 1 to 20 of 104

1.

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB.

N Engl J Med. 2013 Jun 27;368(26):2467-75. doi: 10.1056/NEJMoa1302160. Epub 2013 Jun 5.

2.

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC.

J Clin Endocrinol Metab. 2014 Jun;99(6):E1097-103. doi: 10.1210/jc.2013-3126. Epub 2014 Mar 14.

3.

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

Simon D, Ba I, Mekhail N, Ecosse E, Paulsen A, Zenaty D, Houang M, Jesuran Perelroizen M, de Filippo GP, Salerno M, Simonin G, Reynaud R, Carel JC, Léger J, de Roux N.

Eur J Endocrinol. 2016 Jan;174(1):1-8. doi: 10.1530/EJE-15-0488. Epub 2015 Oct 1.

4.

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.

Känsäkoski J, Raivio T, Juul A, Tommiska J.

Pediatr Res. 2015 Dec;78(6):709-11. doi: 10.1038/pr.2015.159. Epub 2015 Sep 2.

PMID:
26331766
5.

A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene.

Grandone A, Cantelmi G, Cirillo G, Marzuillo P, Luongo C, Miraglia del Giudice E, Perrone L.

BMC Endocr Disord. 2015 Oct 23;15:60. doi: 10.1186/s12902-015-0056-8.

6.

A new pathway in the control of the initiation of puberty: the MKRN3 gene.

Abreu AP, Macedo DB, Brito VN, Kaiser UB, Latronico AC.

J Mol Endocrinol. 2015 Jun;54(3):R131-9. doi: 10.1530/JME-14-0315. Review.

7.

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.

Neocleous V, Shammas C, Phelan MM, Nicolaou S, Phylactou LA, Skordis N.

Clin Endocrinol (Oxf). 2016 Jan;84(1):80-4. doi: 10.1111/cen.12854. Epub 2015 Aug 6.

PMID:
26173472
8.

A novel MKRN3 missense mutation causing familial precocious puberty.

de Vries L, Gat-Yablonski G, Dror N, Singer A, Phillip M.

Hum Reprod. 2014 Dec;29(12):2838-43. doi: 10.1093/humrep/deu256. Epub 2014 Oct 14.

PMID:
25316453
9.

Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.

Settas N, Dacou-Voutetakis C, Karantza M, Kanaka-Gantenbein C, Chrousos GP, Voutetakis A.

J Clin Endocrinol Metab. 2014 Apr;99(4):E647-51. doi: 10.1210/jc.2013-4084. Epub 2014 Jan 17.

PMID:
24438377
10.

New causes of central precocious puberty: the role of genetic factors.

Bulcao Macedo D, Nahime Brito V, Latronico AC.

Neuroendocrinology. 2014;100(1):1-8. doi: 10.1159/000366282. Epub 2014 Aug 9. Review.

11.

An update on the genetic causes of central precocious puberty.

Shin YL.

Ann Pediatr Endocrinol Metab. 2016 Jun;21(2):66-9. doi: 10.6065/apem.2016.21.2.66. Epub 2016 Jun 30. Review.

12.

MKRN3 mutations in familial central precocious puberty.

Schreiner F, Gohlke B, Hamm M, Korsch E, Woelfle J.

Horm Res Paediatr. 2014;82(2):122-6. doi: 10.1159/000362815. Epub 2014 Jul 5.

PMID:
25011910
13.

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Dimitrova-Mladenova MS, Stefanova EM, Glushkova M, Todorova AP, Todorov T, Konstantinova MM, Kazakova K, Tincheva RS.

J Pediatr. 2016 Dec;179:263-265. doi: 10.1016/j.jpeds.2016.08.065. Epub 2016 Sep 15.

PMID:
27640350
14.

Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls.

Lee HS, Jin HS, Shim YS, Jeong HR, Kwon E, Choi V, Kim MC, Chung IS, Jeong SY, Hwang JS.

Horm Metab Res. 2016 Feb;48(2):118-22. doi: 10.1055/s-0035-1548938. Epub 2015 May 4.

PMID:
25938887
15.

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.

Dauber A, Cunha-Silva M, Macedo DB, Brito VN, Abreu AP, Roberts SA, Montenegro LR, Andrew M, Kirby A, Weirauch MT, Labilloy G, Bessa DS, Carroll RS, Jacobs DC, Chappell PE, Mendonca BB, Haig D, Kaiser UB, Latronico AC.

J Clin Endocrinol Metab. 2017 May 1;102(5):1557-1567. doi: 10.1210/jc.2016-3677.

PMID:
28324015
16.

Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.

Macedo DB, Silveira LF, Bessa DS, Brito VN, Latronico AC.

Endocr Dev. 2016;29:50-71. doi: 10.1159/000438874. Epub 2015 Dec 17. Review.

PMID:
26680572
17.

Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case.

Stecchini MF, Macedo DB, Reis AC, Abreu AP, Moreira AC, Castro M, Kaiser UB, Latronico AC, Antonini SR.

Horm Res Paediatr. 2016;86(2):126-130. Epub 2016 Jul 16.

18.

Circulating MKRN3 levels decline prior to pubertal onset and through puberty: a longitudinal study of healthy girls.

Hagen CP, Sørensen K, Mieritz MG, Johannsen TH, Almstrup K, Juul A.

J Clin Endocrinol Metab. 2015 May;100(5):1920-6. doi: 10.1210/jc.2014-4462. Epub 2015 Feb 19.

PMID:
25695892
19.

The first Japanese case of central precocious puberty with a novel MKRN3 mutation.

Nishioka J, Shima H, Fukami M, Yatsuga S, Matsumoto T, Ushijima K, Kitamura M, Koga Y.

Hum Genome Var. 2017 May 18;4:17017. doi: 10.1038/hgv.2017.17. eCollection 2017.

20.

Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty.

Simsek E, Demiral M, Ceylaner S, Kırel B.

Horm Res Paediatr. 2017;87(6):405-411. doi: 10.1159/000450923. Epub 2016 Nov 1.

PMID:
27798941

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