Ken McElreavey
Overview
Explore the profile of Ken McElreavey including associated specialties, affiliations and a list of published articles.
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102
Citations
2538
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Recent Articles
11.
Akbari A, Padidar K, Salehi N, Mashayekhi M, Almadani N, Sadighi Gilani M, et al.
Hum Reprod
. 2021 Jan;
36(4):1134-1145.
PMID: 33448284
Study Question: Can whole-exome sequencing (WES) reveal a shared pathogenic variant responsible for primary gonadal failure in both male and female patients from a consanguineous family? Summary Answer: Patients with...
12.
Lambert S, Peycelon M, Samara-Boustani D, Hyon C, Dumeige L, Peuchmaur M, et al.
Clin Endocrinol (Oxf)
. 2020 Dec;
94(4):667-676.
PMID: 33296530
Objective: SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome....
13.
Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K
PLoS One
. 2020 Dec;
15(12):e0242358.
PMID: 33270637
Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, interrupted pituitary stalk and anterior pituitary hypoplasia, as well as in some cases, a...
14.
Eozenou C, Gonen N, Touzon M, Jorgensen A, Yatsenko S, Fusee L, et al.
Proc Natl Acad Sci U S A
. 2020 Jun;
117(24):13680-13688.
PMID: 32493750
Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with...
15.
Hiort O, Cools M, Springer A, McElreavey K, Greenfield A, Wudy S, et al.
Nat Rev Endocrinol
. 2019 Aug;
15(10):615-622.
PMID: 31406344
Differences of sex development are conditions with discrepancies between chromosomal, gonadal and phenotypic sex. In congenital hypogonadotropic hypogonadism, a lack of gonadotropin activity results primarily in the absence of pubertal...
16.
McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan D, et al.
Genet Med
. 2019 Jul;
22(1):150-159.
PMID: 31337883
Purpose: XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology...
17.
Askari M, Karamzadeh R, Ansari-Pour N, Karimi-Jafari M, Almadani N, Sadighi Gilani M, et al.
J Hum Genet
. 2019 Jul;
64(10):1023-1032.
PMID: 31320686
Obstructive azoospermia (OA), defined as an obstruction in any region of the male genital tract, accounts for 40% of all azoospermia cases. Of all OA cases, ~30% are thought to...
18.
Eozenou C, Bashamboo A, Bignon-Topalovic J, Merel T, Zwermann O, Lourenco D, et al.
Hum Mutat
. 2019 May;
40(8):1071-1076.
PMID: 31058389
Human sex-determination is a poorly understood genetic process, where gonad development depends on a cell fate decision that occurs in a somatic cell to commit to Sertoli (male) or granulosa...
19.
Sreenivasan R, Ludbrook L, Fisher B, Declosmenil F, Knower K, Croft B, et al.
Hum Mutat
. 2018 Aug;
39(12):1861-1874.
PMID: 30067310
Nuclear receptor subfamily 5 group A member 1/Steroidogenic factor 1 (NR5A1; SF-1; Ad4BP) mutations cause 46,XY disorders of sex development (DSD), with phenotypes ranging from developmentally mild (e.g., hypospadias) to...
20.
Bashamboo A, McElreavey K
Expert Rev Endocrinol Metab
. 2018 Jul;
11(5):433-443.
PMID: 30058910
Next Generation Sequencing is revolutionising our understanding of variation in the human genome and as costs reduce the sequencing of patient's genomes is become more routine. Areas covered: Here, we...