Stephanie Seminara
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Explore the profile of Stephanie Seminara including associated specialties, affiliations and a list of published articles.
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11
Citations
367
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Recent Articles
1.
Plummer L, Balasubramanian R, Stamou M, Campbell M, Dewan P, Bryant N, et al.
J Neuroendocrinol
. 2024 Sep;
36(10):e13445.
PMID: 39256164
Pubertal timing is a highly heritable trait in the general population. Recently, a large-scale exome-wide association study has implicated rare variants in six genes (KDM4C, MC3R, MKRN3, PDE10A, TACR3, and...
2.
Stamou M, Brand H, Wang M, Wong I, Lippincott M, Plummer L, et al.
J Clin Endocrinol Metab
. 2022 May;
107(8):2228-2242.
PMID: 35574646
Context: The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined. Objective: To determine the role of copy number variants (CNVs) in IHH pathogenicity and define their...
3.
Laisk T, Soares A, Ferreira T, Painter J, Censin J, Laber S, et al.
Nat Commun
. 2020 Nov;
11(1):5980.
PMID: 33239672
Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for...
4.
Laisk T, Kukuskina V, Palmer D, Laber S, Chen C, Ferreira T, et al.
Hum Mol Genet
. 2018 Sep;
27(24):4323-4332.
PMID: 30202859
The normal menstrual cycle requires a delicate interplay between the hypothalamus, pituitary and ovary. Therefore, its length is an important indicator of female reproductive health. Menstrual cycle length has been...
5.
Lehman M, Coolen L, Steiner R, Neal-Perry G, Wang L, Moenter S, et al.
J Neuroendocrinol
. 2018 Apr;
:e12600.
PMID: 29656508
The 3 World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond" was held March 30-31 at the Rosen Centre Hotel in Orlando, Florida, providing an international forum for multidisciplinary scientists...
6.
Shahab M, Lippincott M, Chan Y, Davies A, Merino P, Plummer L, et al.
J Clin Endocrinol Metab
. 2018 Feb;
103(4):1273-1276.
PMID: 29452377
Context: Hypothalamic kisspeptin signaling plays a critical role in the initiation and maintenance of reproductive function. Biallelic mutations in the coding sequence of KISS1R (GPR54) have been identified in patients...
7.
Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, et al.
Hum Reprod
. 2010 Feb;
25(4):1076-80.
PMID: 20139426
Fibroblast growth factor receptor 1 (FGFR1) is one of the causative genes for Kallmann syndrome (KS), which is characterized by isolated hypogonadotropic hypogonadism with anosmia/hyposmia. The third immunoglobulin-like domain (D3)...
8.
Crowley Jr W, Pitteloud N, Seminara S
Trans Am Clin Climatol Assoc
. 2008 Jul;
119:29-37.
PMID: 18596868
The neuroendocrine control of reproduction in all mammals is governed by a hypothalamic neural network of approximately 1,500 gonadotropin releasing hormone (GnRH) secreting neurons that control activity of the reproductive...
9.
Gianetti E, Seminara S
Reproduction
. 2008 Jun;
136(3):295-301.
PMID: 18515314
In 2003, three groups around the world simultaneously discovered that KISS1R (GPR54) is a key gatekeeper of sexual maturation in both mice and men. Developmental changes in the expression of...
10.
Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, et al.
J Clin Invest
. 2007 Jan;
117(2):457-63.
PMID: 17235395
Idiopathic hypogonadotropic hypogonadism (IHH) due to defects of gonadotropin-releasing hormone (GnRH) secretion and/or action is a developmental disorder of sexual maturation. To date, several single-gene defects have been implicated in...