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Walter L Miller Selected Research

Antley-Bixler Syndrome Phenotype

10/2012P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.
12/2009Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.
3/2009Genetic variation in human P450 oxidoreductase.
1/2008Genetic and clinical features of p450 oxidoreductase deficiency.
1/2008P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.
6/2007Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
8/2006P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.
5/2005Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
11/2004P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes.
3/2004Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

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Walter L Miller Research Topics

Disease

18Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
12/2022 - 10/2003
11Hyperplasia
01/2017 - 08/2004
10Antley-Bixler Syndrome Phenotype
10/2012 - 03/2004
7Inborn Genetic Diseases (Disease, Hereditary)
09/2018 - 08/2002
6Virilism (Virilization)
10/2012 - 08/2002
5Adrenal Insufficiency (Adrenal Gland Hypofunction)
01/2019 - 08/2006
5Polycystic Ovary Syndrome (Syndrome, Stein-Leventhal)
06/2015 - 01/2003
4Hypertension (High Blood Pressure)
09/2018 - 08/2009
4Disorders of Sex Development (Intersexuality)
10/2012 - 05/2005
4Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
01/2009 - 06/2007
3Rickets (Rachitis)
01/2017 - 06/2002
3Neoplasms (Cancer)
06/2015 - 01/2003
3Insulin Resistance
05/2008 - 04/2004
3Craniosynostoses (Craniosynostosis)
01/2008 - 12/2005
2Isolated 17,20-Lyase Deficiency
09/2018 - 09/2008
2Hypercalcemia (Milk Alkali Syndrome)
01/2017 - 02/2015
2Hypocalcemia
01/2017 - 08/2007
2Hyperglycemia
06/2015 - 05/2013
2Birth Weight (Birth Weights)
06/2015 - 05/2013
246,XY Disorder of Sex Development (Male Pseudohermaphroditism)
08/2011 - 03/2008
2Nephrogenic Diabetes Insipidus
01/2010 - 09/2009
2Polyuria
01/2010 - 09/2009
2Penis agenesis
12/2009 - 06/2004
2Amenorrhea
12/2009 - 03/2004
2Hyponatremia
05/2005 - 02/2005
1Fibrosis (Cirrhosis)
01/2021
1Heart Failure
01/2021
1Arthralgia (Joint Pain)
01/2018
1Joint Instability (Joint Laxity)
01/2018
1Joint Dislocations
01/2018
1Hernia (Hernias)
01/2018
1Secondary Hyperparathyroidism
01/2017
1Hypoxia (Hypoxemia)
02/2015
1Nephrolithiasis
02/2015
1Deficiency Diseases (Deficiency Disease)
10/2013
1Wolman Disease (Wolman's Disease)
12/2011
1type 1 familial Hypocalciuric hypercalcemia
10/2010
1Hyperparathyroidism
10/2010
1Cushing Syndrome
09/2010
1Polydipsia
01/2010
1Infertility (Sterility)
12/2009
1Neurogenic Diabetes Insipidus (Central Diabetes Insipidus)
09/2009
1Sexual Infantilism
08/2009

Drug/Important Bio-Agent (IBA)

12AndrogensIBA
01/2019 - 08/2002
11Oxidoreductases (Dehydrogenase)IBA
02/2015 - 03/2004
10Steroid 21-Hydroxylase (21 Hydroxylase)IBA
01/2019 - 08/2006
9SteroidsIBA
09/2018 - 01/2003
8EnzymesIBA
10/2013 - 08/2002
7SaltsIBA
01/2021 - 08/2004
7Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA
09/2018 - 06/2004
6Hydrocortisone (Cortisol)FDA LinkGeneric
12/2022 - 09/2002
6Mixed Function Oxygenases (Monooxygenases)IBA
09/2018 - 06/2004
5Proteins (Proteins, Gene)FDA Link
09/2018 - 06/2002
4Adrenocorticotropic Hormone (ACTH)FDA Link
09/2018 - 06/2004
4CholesterolIBA
11/2017 - 06/2004
4Vitamin DFDA LinkGeneric
01/2017 - 06/2002
4steroidogenic acute regulatory proteinIBA
02/2015 - 12/2006
4Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA
01/2008 - 05/2005
3MineralocorticoidsIBA
09/2018 - 09/2002
3Dexamethasone (Maxidex)FDA LinkGeneric
06/2015 - 10/2003
3Pharmaceutical PreparationsIBA
10/2012 - 11/2004
3GlucocorticoidsIBA
10/2012 - 12/2006
3Cholesterol Esters (Cholesteryl Esters)IBA
12/2011 - 01/2003
3Cytochrome P-450 Enzyme System (Cytochrome P450)IBA
06/2007 - 03/2004
2AldosteroneIBA
01/2021 - 12/2006
2Vitamin D3 24-HydroxylaseIBA
01/2017 - 02/2015
2DNA (Deoxyribonucleic Acid)IBA
01/2017 - 09/2008
2Cholesterol Side-Chain Cleavage Enzyme (CYP11A1)IBA
03/2011 - 03/2008
2Vasopressin Receptors (Arginine Vasopressin Receptor)IBA
01/2010 - 09/2009
2Vasopressins (Vasopressin)IBA
09/2009 - 05/2005
2Hormones (Hormone)IBA
08/2004 - 01/2003
1CorticosteroneIBA
01/2021
1Angiotensin IIIBA
01/2021
121-deoxycortisolIBA
01/2019
1tenascin XIBA
01/2018
1Biological ProductsIBA
11/2017
1hydroxide ionIBA
01/2017
1Calcitriol (Calcijex)FDA LinkGeneric
01/2017
1LipidsIBA
01/2017
125-Hydroxyvitamin D3 1-alpha-Hydroxylase (25 Hydroxyvitamin D3 1 alpha Hydroxylase)IBA
01/2017
1Sterol Esterase (Hormone-Sensitive Lipase)IBA
12/2011
1Messenger RNA (mRNA)IBA
02/2011
1Sulfates (Sulfates, Inorganic)IBA
02/2011
1Dehydroepiandrosterone (DHEA)IBA
02/2011
1Calcium-Sensing ReceptorsIBA
10/2010
1ElectrolytesIBA
01/2010
1Deamino Arginine Vasopressin (Desmopressin)FDA LinkGeneric
09/2009
1Cytochrome P-450 CYP3AIBA
01/2009
1Cytochrome P-450 CYP2C19IBA
01/2009
1GonadotropinsIBA
05/2008
1Serine (L-Serine)FDA Link
05/2008
1Mitogen-Activated Protein Kinase Kinases (MEKs)IBA
05/2008
1ProgesteroneFDA LinkGeneric
01/2008
1Estriol (Epiestriol)IBA
01/2008
1Dihydrotestosterone (Androstanolone)IBA
01/2008
1Testosterone (Sustanon)FDA Link
01/2008
1Androstenedione (4 Androstene 3,17 dione)IBA
01/2008
11,25-dihydroxyvitamin DIBA
08/2007
125-hydroxyvitamin DIBA
08/2007

Therapy/Procedure

3Therapeutics
01/2017 - 10/2003