Ken Mcelreavey - Publications

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a SEMA3E Loss-of-Function Variant.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: April 27, 2025

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Journal: Reproductive biology and endocrinology : RB&E

Published: July 14, 2022

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

Journal: Nature communications

Published: July 10, 2022

Identification of a missense variant in CLDN2 in obstructive azoospermia.

Journal: Journal of human genetics

Published: April 06, 2019

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: May 08, 2018

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 06, 2015

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.

Journal: Fertility and sterility

Published: August 31, 2015

Human sex-determination and disorders of sex-development (DSD).

Journal: Seminars in cell & developmental biology

Published: August 20, 2015

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.

Journal: Fertility and sterility

Published: August 08, 2014