Kenneth McElreavey Selected Research

46,XY Gonadal Dysgenesis (Swyer Syndrome)

1/2022	A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
1/2022	DHX37 and 46,XY DSD: A New Ribosomopathy?
1/2021	Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

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Kenneth McElreavey Research Topics

Disease

3	46,XY Gonadal Dysgenesis (Swyer Syndrome) 01/2022 - 01/2021
2	Anorchia 01/2022 - 01/2021
1	Microphthalmos 06/2021
1	Cryptorchidism (Undescended Testes) 06/2021
1	Chromosome Breakage 01/2019
1	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 01/2018
1	Sensorineural Hearing Loss 01/2018
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2017
1	Dwarfism 12/2014
1	Disorders of Sex Development (Intersexuality) 01/2014
1	Androgen-Insensitivity Syndrome (Testicular Feminization) 01/2013

Drug/Important Bio-Agent (IBA)

2	RNA Helicases (RNA Helicase)IBA 01/2022 - 01/2021
1	AcyltransferasesIBA 01/2022
1	Hormones (Hormone)IBA 06/2021
1	Insulin (Novolin)FDA Link 06/2021
1	Mitomycin (Mitomycin-C)FDA LinkGeneric 01/2019
1	dirhodium tetraacetate (DRTA)IBA 01/2018
1	Vesicle-Associated Membrane Protein 1IBA 01/2017
1	Phosphotransferases (Kinase)IBA 12/2014
1	Proteins (Proteins, Gene)FDA Link 01/2014
1	Androgen Receptors (Androgen Receptor)IBA 01/2013
1	AndrogensIBA 01/2013