Virginia A Hughes
Overview
Explore the profile of Virginia A Hughes including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
1471
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0
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Recent Articles
1.
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, et al.
Endocr Rev
. 2017 Feb;
30(7):934.
PMID: 28199515
No abstract available.
2.
Miraoui H, Dwyer A, Sykiotis G, Plummer L, Chung W, Feng B, et al.
Am J Hum Genet
. 2013 May;
92(5):725-43.
PMID: 23643382
Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically heterogeneous. Among the >15 genes implicated in these conditions, mutations in FGF8 and FGFR1 account for ~12%...
3.
Lewkowitz-Shpuntoff H, Hughes V, Plummer L, Au M, Doty R, Seminara S, et al.
J Clin Endocrinol Metab
. 2011 Nov;
97(1):E136-44.
PMID: 22072740
Context: The olfactory phenotype in patients with idiopathic hypogonadotropic hypogonadism (IHH) ranges from complete anosmia (Kallmann syndrome) to normosmia (normosmic IHH). However, the true prevalence of intermediary olfactory phenotypes (hyposmia)...
4.
Caronia L, Martin C, Welt C, Sykiotis G, Quinton R, Thambundit A, et al.
N Engl J Med
. 2011 Jan;
364(3):215-25.
PMID: 21247312
Background: Functional hypothalamic amenorrhea is a reversible form of gonadotropin-releasing hormone (GnRH) deficiency commonly triggered by stressors such as excessive exercise, nutritional deficits, or psychological distress. Women vary in their...
5.
Shaw N, Seminara S, Welt C, Au M, Plummer L, Hughes V, et al.
J Clin Endocrinol Metab
. 2011 Jan;
96(3):E566-76.
PMID: 21209029
Context: GnRH deficiency is a rare genetic disorder of absent or partial pubertal development. The clinical and genetic characteristics of GnRH-deficient women have not been well-described. Objective: To determine the...
6.
Sykiotis G, Plummer L, Hughes V, Au M, Durrani S, Nayak-Young S, et al.
Proc Natl Acad Sci U S A
. 2010 Aug;
107(34):15140-4.
PMID: 20696889
Between the genetic extremes of rare monogenic and common polygenic diseases lie diverse oligogenic disorders involving mutations in more than one locus in each affected individual. Elucidating the principles of...
7.
Gianetti E, Tusset C, Noel S, Au M, Dwyer A, Hughes V, et al.
J Clin Endocrinol Metab
. 2010 Mar;
95(6):2857-67.
PMID: 20332248
Context: Mutations in TAC3 and TACR3 (encoding neurokinin B and its receptor) have been identified in Turkish patients with idiopathic hypogonadotropic hypogonadism (IHH), but broader populations have not yet been...
8.
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, et al.
J Clin Endocrinol Metab
. 2009 Oct;
94(11):4380-90.
PMID: 19820032
Context: FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. Recently cases of idiopathic hypogonadotropic hypogonadism (IHH) with a normal sense of smell (nIHH) have been...
9.
Cole L, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, et al.
J Clin Endocrinol Metab
. 2008 Jun;
93(9):3551-9.
PMID: 18559922
Context: Mice deficient in prokineticin 2(PROK2) and prokineticin receptor2 (PROKR2) exhibit variable olfactory bulb dysgenesis and GnRH neuronal migration defects reminiscent of human GnRH deficiency. Objectives: We aimed to screen...
10.
Frontera W, Reid K, Phillips E, Krivickas L, Hughes V, Roubenoff R, et al.
J Appl Physiol (1985)
. 2008 Jun;
105(2):637-42.
PMID: 18556434
Cross-sectional studies are likely to underestimate age-related changes in skeletal muscle strength and mass. The purpose of this longitudinal study was to assess whole muscle and single muscle fiber alterations...