Ken McElreavey
Overview
Explore the profile of Ken McElreavey including associated specialties, affiliations and a list of published articles.
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Articles
102
Citations
2538
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Recent Articles
1.
Wankanit S, Zidoune H, Bignon-Topalovic J, Schlick L, Houzelstein D, Fusee L, et al.
Sci Rep
. 2024 Aug;
14(1):17869.
PMID: 39090159
NR2F2 encodes COUP-TFII, an orphan nuclear receptor required for the development of the steroidogenic lineages of the murine fetal testes and ovaries. Pathogenic variants in human NR2F2 are associated with...
2.
Houzelstein D, Eozenou C, Lagos C, Elzaiat M, Bignon-Topalovic J, Gonzalez I, et al.
Nat Commun
. 2024 Mar;
15(1):2796.
PMID: 38555298
The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required...
3.
Cools M, Cheng E, Hall J, Alderson J, Amies Oelschlager A, Balen A, et al.
Horm Res Paediatr
. 2024 Feb;
PMID: 38310850
Background: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments...
4.
Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K
PLoS One
. 2023 Dec;
18(12):e0292664.
PMID: 38096238
Pituitary stalk interruption syndrome (PSIS) is a rare disorder characterized by an absent or ectopic posterior pituitary, absent or interrupted pituitary stalk and anterior pituitary hypoplasia on magnetic resonance imaging...
5.
Montenegro L, Seraphim C, Tinano F, Piovesan M, Canton A, McElreavey K, et al.
Eur J Endocrinol
. 2023 Sep;
189(3):422-428.
PMID: 37703313
Background: Several rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP). Objective: We investigated genetic abnormalities of...
6.
Duckett K, Williamson A, Kincaid J, Rainbow K, Corbin L, Martin H, et al.
J Clin Endocrinol Metab
. 2023 Jun;
108(12):e1580-e1587.
PMID: 37339320
Context: The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of pubertal timing, linear growth, and the acquisition of lean mass in humans and mice. In population-based...
7.
8.
Zidoune H, Ladjouze A, Chellat-Rezgoune D, Boukri A, Dib S, Nouri N, et al.
Front Genet
. 2022 Sep;
13:900574.
PMID: 36110220
In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic...
9.
Elzaiat M, McElreavey K, Bashamboo A
Best Pract Res Clin Endocrinol Metab
. 2022 Mar;
36(1):101633.
PMID: 35249806
In 46,XY men, testis is determined by a genetic network(s) that both promotes testis formation and represses ovarian development. Disruption of this process results in a lack of testis-determination and...
10.
Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K
Front Pediatr
. 2021 May;
9:641397.
PMID: 34055685
Peripheral precocious puberty of ovarian origin is a very rare condition compared to central form. It may be associated with an isolated ovarian cyst (OC). The causes of OC in...