Kenneth Mcelreavey

Paris, France

Last Updated: 09/26/2026

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Found 38 publications

Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population.

Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 25, 2024

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Journal: European journal of endocrinology

Published: June 14, 2024

Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.

Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 11, 2023

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Journal: Nature communications

Published: June 15, 2023

Predictors of surgical complications in boys with hypospadias: data from an internationa registry.

Predictors of surgical complications in boys with hypospadias: data from an internationa registry.

Journal: World journal of pediatric surgery

Published: March 24, 2023

In vitro cellular reprogramming to model gonad development and its disorders.

In vitro cellular reprogramming to model gonad development and its disorders.

Journal: Science advances

Published: January 04, 2023

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

Journal: Journal of clinical research in pediatric endocrinology

Published: August 19, 2022

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Journal: Nature communications

Published: April 03, 2022

Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.

Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 01, 2021

DHX37 and 46,XY DSD: A New Ribosomopathy?

DHX37 and 46,XY DSD: A New Ribosomopathy?

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

Published: October 28, 2021

Monogenic Forms of DSD: An Update.

Monogenic Forms of DSD: An Update.

Journal: Hormone research in paediatrics

Published: September 02, 2021

The evolving role of whole-exome sequencing in the management of disorders of sex development.

The evolving role of whole-exome sequencing in the management of disorders of sex development.

Journal: Endocrine connections

Published: May 09, 2021

Showing 1-12 of 38

Last Updated: 09/26/2026