Genetic screening of the makorin ring finger 3 gene in girls with idiopathic central precocious puberty
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F. Tsai | C. Wang | Wei‑De Lin | Wei-De Lin
[1] M. Phillip,et al. A novel MKRN3 missense mutation causing familial precocious puberty. , 2014, Human reproduction.
[2] A. Latronico,et al. New Causes of Central Precocious Puberty: The Role of Genetic Factors , 2014, Neuroendocrinology.
[3] F. Schreiner,et al. MKRN3 Mutations in Familial Central Precocious Puberty , 2014, Hormone Research in Paediatrics.
[4] Jana Marie Schwarz,et al. MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.
[5] J. Hirschhorn,et al. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. , 2014, The Journal of clinical endocrinology and metabolism.
[6] G. Chrousos,et al. Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene. , 2014, The Journal of clinical endocrinology and metabolism.
[7] J. Hirschhorn,et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. , 2013, The New England journal of medicine.
[8] I. Hughes. Releasing the brake on puberty. , 2013, The New England journal of medicine.
[9] F. Tsai,et al. Personalized medicine: A paradigm shift in healthcare , 2013 .
[10] J. Fuqua. Treatment and outcomes of precocious puberty: an update. , 2013, The Journal of clinical endocrinology and metabolism.
[11] T. Raivio,et al. LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty , 2011, BMC Research Notes.
[12] W. Kuohung,et al. Mutations of the KISS1 gene in disorders of puberty. , 2010, The Journal of clinical endocrinology and metabolism.
[13] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[14] R. Hochstenbach,et al. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome , 2009, European Journal of Human Genetics.
[15] S. Seminara,et al. A GPR54-activating mutation in a patient with central precocious puberty. , 2008, The New England journal of medicine.
[16] K. Bradshaw,et al. Disorders of Pubertal Development: Precocious Puberty , 2003, Seminars in reproductive medicine.
[17] E. Terasawa,et al. Neurobiological mechanisms of the onset of puberty in primates. , 2001, Endocrine reviews.
[18] R. Nicholls,et al. The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system. , 2000, Genomics.
[19] D. J. Driscoll,et al. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. , 1999, Human molecular genetics.
[20] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[21] B. Horsthemke,et al. Genomic imprinting and imprinting defects in humans. , 2008, Advances in genetics.
[22] J. Carel,et al. Precocious Puberty , 2021, Oxford Textbook of Endocrinology and Diabetes 3e.
[23] W. Reik,et al. Genomic imprinting: parental influence on the genome , 2001, Nature Reviews Genetics.