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I A Hughes Selected Research

Androgen-Insensitivity Syndrome (Testicular Feminization)

11/2016The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
11/2016Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.
1/2013Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.
1/2012A cell model for conditional profiling of androgen-receptor-interacting proteins.
10/2008A novel mutation in the human androgen receptor suggests a regulatory role for the hinge region in amino-terminal and carboxy-terminal interactions.
4/2006Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.
3/2006Testicular development in the complete androgen insensitivity syndrome.
7/2005Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.
2/2000Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

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I A Hughes Research Topics

Disease

9Androgen-Insensitivity Syndrome (Testicular Feminization)
11/2016 - 02/2000
3Cryptorchidism (Undescended Testes)
01/2020 - 11/2009
3Hypospadias
11/2016 - 09/2002
2Weight Gain
01/2021 - 08/2002
2Neoplasms (Cancer)
10/2017 - 03/2006
2Insulin Resistance
02/2010 - 06/2003
2Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
08/2003 - 05/2003
2Body Weight (Weight, Body)
06/2003 - 08/2002
1Obesity
01/2021
1Gestational Diabetes (Gestational Diabetes Mellitus)
09/2017
146,XY Disorder of Sex Development (Male Pseudohermaphroditism)
12/2012
1Precocious Puberty
12/2008
1Penis agenesis
07/2005
1Congenital Abnormalities (Deformity)
08/2003
1Birth Weight (Birth Weights)
09/2002
1Virilism (Virilization)
08/2002
1WAGR Syndrome (Syndrome, WAGR)
12/2001
1Persistent Mullerian duct syndrome
09/2001
146,XY Gonadal Dysgenesis (Swyer Syndrome)
12/2000
1Denys-Drash Syndrome
01/2000

Drug/Important Bio-Agent (IBA)

7Androgen Receptors (Androgen Receptor)IBA
11/2016 - 02/2000
7AndrogensIBA
12/2012 - 12/2001
2Biomarkers (Surrogate Marker)IBA
01/2021 - 06/2003
2Testosterone (Sustanon)FDA Link
11/2016 - 01/2000
2Hormones (Hormone)IBA
12/2008 - 09/2001
2Dexamethasone (Maxidex)FDA LinkGeneric
08/2003 - 08/2002
1LipidsIBA
01/2021
1stearoyl-coenzyme A (stearoyl-CoA)IBA
01/2021
1Fatty Acid DesaturasesIBA
01/2021
1Apolipoproteins E (ApoE)IBA
01/2021
1Cholesterol Esters (Cholesteryl Esters)IBA
01/2021
1bisphenol AIBA
01/2020
1Phenol (Carbolic Acid)FDA Link
01/2020
1ParabensIBA
01/2020
1phthalic acid (phthalate)IBA
01/2020
1Dihydrotachysterol (AT 10)IBA
01/2020
1Glucose (Dextrose)FDA LinkGeneric
09/2017
1Acetaminophen (Paracetamol)FDA LinkGeneric
11/2016
1Gonadotropin-Releasing Hormone (GnRH)FDA Link
12/2008
16-chloro-2-(1-piperazinyl)pyrazine (CPP)IBA
12/2008
1LigandsIBA
04/2006
1GlucocorticoidsIBA
06/2003
1SteroidsIBA
06/2003
1LeptinIBA
06/2003
1prednylidene (Pred)IBA
08/2002
1Phosphotransferases (Kinase)IBA
09/2001
1NucleotidesIBA
12/2000
1Oxidoreductases (Dehydrogenase)IBA
01/2000

Therapy/Procedure

1Castration
10/2017
1Operative Surgical Procedures
11/2016