Citation Impact
Citing Papers
Disturbed Homeostasis in Sodium-Restricted Mice Heterozygous and Homozygous for Aldosterone Synthase Gene Disruption
2006 StandoutNobel
Normal gut microbiota modulates brain development and behavior
2011 Standout
Gene conversion in steroid 21-hydroxylase genes.
1990
Coordinated but physically separable interaction with H3K27-demethylase and H3K4-methyltransferase activities are required for T-box protein-mediated activation of developmental gene expression
2008
Morphometrics of the Avian Small Intestine Compared with That of Nonflying Mammals: A Phylogenetic Approach
2008
Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
1991
The cholinergic hypothesis of Alzheimer's disease: a review of progress
1999 Standout
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
2010
Review article: the role of butyrate on colonic function
2007 Standout
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation
2005
T-box genes in human disorders
2003
Autoinflammatory Disease Reloaded: A Clinical Perspective
2010 Standout
The multiple murine 3β-hydroxysteroid dehydrogenase isoforms: Structure, function, and tissue- and developmentally specific expression
1997
Structure of Two in Tandem Human 17β-Hydroxysteroid Dehydrogenase Genes
1990
Studies of 3 beta-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased adrenocorticotropin-stimulated delta 5-steroid levels.
1996
17β-Hydroxysteroid Dehydrogenase 3 Deficiency in Women1
1999
The human fetal adrenal cortex and the window of sexual differentiation
2006
The Physiology and Pharmacology of Melatonin in Humans
1998
Adipocyte dysfunctions linking obesity to insulin resistance and type 2 diabetes
2008 Standout
Early assessment of ambiguous genitalia
2004
Cushing's syndrome
2015 Standout
Histone methylation: a dynamic mark in health, disease and inheritance
2012 Standout
The Lifelong Effects of Early Childhood Adversity and Toxic Stress
2011 Standout
Fibrosis and Adipose Tissue Dysfunction
2013 Standout
Jmjd3 and UTX Play a Demethylase-Independent Role in Chromatin Remodeling to Regulate T-Box Family Member-Dependent Gene Expression
2010
Deletion Hybrid Genes, due to Unequal Crossing Over betweenCYP11B1(11β-Hydroxylase) andCYP11B2(Aldosterone Synthase) Cause Steroid 11β-Hydroxylase Deficiency and Congenital Adrenal Hyperplasia1
2001
Effects of stress throughout the lifespan on the brain, behaviour and cognition
2009 Standout
Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents
2017 Standout
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2004
The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol
2011
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline
2016 Standout
Obesity and Nonalcoholic Fatty Liver Disease: Biochemical, Metabolic, and Clinical Implications
2009 Standout
Normal Female Infants Born of Mothers with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency1
1999
Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
2013 Standout
Glucocorticoids, developmental ‘programming’ and the risk of affective dysfunction
2007
Adrenal disease in pregnancy
2011
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Hepatic fuel selection
1995
Current concepts in hypospadiology
2004
Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.
1991
Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population
1999
In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development
2006
Glucocorticoid Programming
2004
Genetic analysis of adrenal absence: agenesis and aplasia
2005
PPARγ is a key target of butyrate-induced caspase-3 activation in the colorectal cancer cell line Caco-2
2006
Tenascin–X deficiency is associated with Ehlers–Danlos syndrome
1997
The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report
2008 Standout
Congenital adrenal hyperplasia
2005
Stress and the brain: from adaptation to disease
2005 Standout
CD8+ effector T cells contribute to macrophage recruitment and adipose tissue inflammation in obesity
2009 Standout
Effect of Exogenous Melatonin on Mood and Sleep Efficiency in Emergency Medicine Residents Working Night Shifts
2000
Practical Management of the Intersex Infant
2005
Glucocorticoid “Programming” and PTSD Risk
2006
Disordered Lipid Metabolism and the Pathogenesis of Insulin Resistance
2007
17β-Hydroxysteroid dehydrogenase 3 deficiency
1996
Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: Results of a pilot study
1995
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
1991
Risk of Cardiovascular Disease in Patients with Nonalcoholic Fatty Liver Disease
2010 Standout
The Role of Actigraphy in the Study of Sleep and Circadian Rhythms
2003 Standout
Consensus Statement on Management of Intersex Disorders
2006 Standout
Mutations in Steroid 21-Hydroxylase (CYP21)
1994
Apparent mineralocorticoid excess
2001
GROWTH HORMONE NEUROREGULATION AND ITS ALTERATIONS IN DISEASE STATES
1988
Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies
1999
Molecular Genetics of 21- Hydroxylase Deficiency
2010
SIZE-CORRECTION AND PRINCIPAL COMPONENTS FOR INTERSPECIFIC COMPARATIVE STUDIES
2009 Standout
Melatonin is released in the third ventricle in humans. A study in movement disorders
2009
AKT/PKB Signaling: Navigating the Network
2017 Standout
17α-Hydroxylase/17,20-Lyase Deficiency: From Clinical Investigation to Molecular Definition*
1991
Structure-function relationships of 3β-hydroxysteroid dehydrogenase: Contribution made by the molecular genetics of 3β-hydroxysteroid dehydrogenase deficiency
1997
Hormonal Therapies for Individuals with Intersex Conditions
2005
Kidney function in mice lacking aldosterone
2005 StandoutNobel
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
1992
A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal Hyperplasia
2005
Melatonin and pregnancy in the human
2008
22q11.2 deletion syndrome
2015 Standout
GENDER AND SEXUALITY IN CLASSIC CONGENITAL ADRENAL HYPERPLASIA
2001
Effect of In Utero and Early-Life Conditions on Adult Health and Disease
2008 Standout
Dietary factors and fluctuating levels of melatonin
2012
Involvement of different nuclear hormone receptors in butyrate-mediated inhibition of inducible NFκB signalling
2007
How Should We Be Treating Children with Congenital Hypothyroidism?
2007
Gender Change in 46,XY Persons with 5α-Reductase-2 Deficiency and 17β-Hydroxysteroid Dehydrogenase-3 Deficiency
2005
Beyond aerobic glycolysis: Transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis
2007 Standout
Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.
1992
Surgical Remission of Pituitary Adenomas Confined to the Neurohypophysis in Cushing’s Disease
2006
Pathophysiology of the Neuroregulation of Growth Hormone Secretion in Experimental Animals and the Human*
1998 Standout
Molecular Biology of the 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase Gene Family
2005
Genetic and hormonal control of male sexual differentiation
1975 StandoutNobel
Mechanism and Consequences of the Duplication of the Human C4/P450c21/Gene X Locus
1992
Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess
1999
Familial Incomplete Male Pseudohermaphroditism, Type 2
1974 StandoutNobel
Characteristics of a Highly Labile Human Type 5 17β-Hydroxysteroid Dehydrogenase1
1999
Increased Expression of Genes Converting Adrenal Androgens to Testosterone in Androgen-Independent Prostate Cancer
2006 Standout
STEROID 17, 20‐DESMOLASE DEFICIENCY: A NEW CAUSE OF MALE PSEUDOHERMAPHRODITISM
1972
Magnesium in Man: Implications for Health and Disease
2014 Standout
Influence of different genotypes on 17‐hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21‐hydroxylase deficiency
2000
Familial Incomplete Male Pseudohermaphroditism, Type 1
1974 StandoutNobel
Homeostatic Responses in the Adrenal Cortex to the Absence of Aldosterone in Mice
2005 StandoutNobel
New Insight into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzymes1
1999
The Enzymes, Regulation, and Genetics of Bile Acid Synthesis
2003 Standout
Endocrine and Paracrine Regulation of Birth at Term and Preterm*
2000 Standout
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
1996
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*
2000
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
1994
Practice parameter: Management of dementia (an evidence-based review) [RETIRED]
2001 Standout
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.
1991
Molecular Endocrinology of Hydroxysteroid Dehydrogenases*
1997
Congenital Adrenal Hyperplasia
1987
Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society
2002
Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.
1995
Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience
2006
A Rice Brassinosteroid-Deficient Mutant, ebisu dwarf (d2), Is Caused by a Loss of Function of a New Member of Cytochrome P450
2003 Standout
Sexual and Gender Minority Health: What We Know and What Needs to Be Done
2008 Standout
Isolated Aldosterone Synthase Deficiency Caused by Simultaneous E198D and V386A Mutations in the CYP11B2 Gene1
1998
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
2018
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Phenotype-Genotype Correlation in 56 Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
2001
Sampling and energy evaluation challenges in ligand binding protein design
2017 StandoutNobel
Missense mutation serine106—-proline causes 17 alpha-hydroxylase deficiency
1991
Hormones and Endocrine-Disrupting Chemicals: Low-Dose Effects and Nonmonotonic Dose Responses
2012 Standout
Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
1990 StandoutScience
A Noncanonical, GSK3-Independent Pathway Controls Postprandial Hepatic Glycogen Deposition
2013
Deleterious Missense Mutations and Silent Polymorphism in the Human 17β-Hydroxysteroid Dehydrogenase 3 Gene (HSD17B3)1
1998
Expression of Human 21-Hydroxylase (P450c21) in Bacterial and Mammalian Cells: A System to Characterize Normal and Mutant Enzymes
1990
Effect of inducing nocturnal serum melatoninconcentrations in daytime on sleep, mood, body temperature, andperformance.
1994
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline
2019
Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus.
1989
Extrapineal melatonin: sources, regulation, and potential functions
2014 Standout
Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society* Clinical Practice Guideline
2017 Standout
Impaired FGF signaling contributes to cleft lip and palate
2007
The Role of Androgens in Male Gender Role Behavior
1999
13C NMR of Intermediary Metabolism: Implications for Systemic Physiology
2001
17β-Hydroxysteroid Dehydrogenases: Physiological Roles in Health and Disease
1998
The Natural History of Salt-Wasting Disorders of Adrenal and Renal Origin*
1984
THE MOLECULAR GENETICS OF 21-HYDROXYLASE DEFICIENCY
1989
Differentiation of Effector CD4 T Cell Populations
2010 Standout
Structure and function of the hepatic form of 11 beta-hydroxysteroid dehydrogenase in the squirrel monkey, an animal model of glucocorticoid resistance.
1993
Leydig-Cell Agenesis
1976
TEMPORAL PATTERN FORMATION BY HETEROCHRONIC GENES
1997 StandoutNobel
Works of M David being referenced
Prenatal Treatment in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Up-Date 88 of the French Multicentric Study
1989
Clinical and biological assessments of the undervirilized male
2004
Human and mouseTPITgene mutations cause early onset pituitary ACTH deficiency
2003
Aetiological diagnosis of male sex ambiguity: a collaborative study
2001
Prenatal Treatment of Congenital Adrenal Hyperplasia
1998
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)
2006
Gene Conversions and Rearrangements Cause Discordance Between Inheritance of Forms of 21-Hydroxylase Deficiency and HLA Types*
1989
Urinary melatonin, LH, oestradiol, progesterone excretion during the menstrual cycle or in women taking oral contraceptives
1987
Late prenatal dexamethasone and phenotype variations in 46,XX CAH: Concerns about current protocols and benefits for surgical procedures
2014
Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.
1989
Prenatal diagnosis and treatment of 21-hydroxylase deficiency
1993
Simultaneous synthesis and degradation of rat liver glycogen. An in vivo nuclear magnetic resonance spectroscopic study.
1990
Functional characterization of the novel L108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia
1994
Le régime cétogène à visée anti-épileptique : son utilisation chez 29 enfants épileptiques
2003
A thyroxine dosage of 8 μg/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism
1997
Melatonin and jet lag: Confirmatory result using a simplified protocol
1992
Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency
1984
Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier
2010
Effect of Acute Intravenous Growth Hormone-Releasing Factor on Plasma Prolactin in Short Children and Patients with Growth Hormone Deficiency
1985
Prenatal Treatment of Congenital Adrenal Hyperplasia Resulting from 21-Hydroxylase Deficiency
1985
Nutritional regulation of gastrointestinal growth
1999
New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011)
2014
Familial Male Pseudohermaphroditism with Gynecomastia Due to a Testicular 17-Ketosteroid Reductase Defect. I. Studiesin Vivo
1971
Effect of Sodium Restriction and Angiotensin II Infusion in Bartter's Syndrome
1976
[Familial Mediterranean fever and electroencephalographic changes. A clinical case].
1992
Gonadal Dysgenesis Without Adrenal Insufficiency in a 46, XY Patient Heterozygous for the Nonsense C16X Mutation: A Case of SF1 Haploinsufficiency
2004
Adrenarche does not occur in treated patients with congenital adrenal hyperplasia resulting from 21‐hydroxylase deficiency
1995
[Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
1994
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency by steroid analysis in the amniotic fluid of mid‐pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH
1981
Endocrine Screening in 32 Consecutive Patients with Hypospadias
2002