Citation Impact
Citing Papers
The Somatomedin Hypothesis: 2001
2001
Deep Brain Stimulation for Treatment-Resistant Depression
2005 Standout
Chromosome Abnormalities and Genetic Counseling
2011
Structure of the PAPP-ABP5 complex reveals mechanism of substrate recognition
2022 StandoutNobel
Glutamate Receptor Ion Channels: Structure, Regulation, and Function
2010 Standout
Effects of leuprolide in the treatment of central precocious puberty
1989
To err (meiotically) is human: the genesis of human aneuploidy
2001 Standout
Testosterone Therapy in Men with Androgen Deficiency Syndromes: An Endocrine Society Clinical Practice Guideline
2010 Standout
Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome
2007 StandoutNobel
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
2001
Differential Inhibition of 17α-Hydroxylase and 17,20-Lyase Activities by Three Novel Missense CYP17 Mutations Identified in Patients with P450c17 Deficiency
2002
Mit1/Lb9andCopg2, new members of mouse imprinted genes closely linked toPeg1/Mest
2000
The Human Obesity Gene Map: The 2005 Update
2006
Childhood obesity: public-health crisis, common sense cure
2002 Standout
Molecular Mechanisms of Human Hypertension
2001 Standout
Cushing's syndrome
2015 Standout
Two PrevalentCYP17Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency
2004
Computerized posturography balance assessment of patients with bilateral ventralis intermedius nuclei deep brain stimulation
2006
Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents
2017 Standout
Five Years of GWAS Discovery
2012 Standout
The genetics of the polycystic ovary syndrome
2007
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline
2016 Standout
Gsα Mutations and Imprinting Defects in Human Disease
2002
Insulin-Like Growth Factor 1 Physiology
2012
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
1997
Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496) → Cys, Gln(461) → Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency
1992
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
1999
The regulation of 17,20 lyase activity
1997
1,026 Experimental treatments in acute stroke
2006 Standout
Williams–Beuren Syndrome
2010 Standout
2-COP, a Novel Imprinted Gene on Chromosome 7q32, Defines a New Imprinting Cluster in the Human Genome
1999
Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens
2001
Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism
2009
Gynecomastia
1993
Polycystic Ovary Syndrome
2005 Standout
Non-coding RNAs in human disease
2011 Standout
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
1998
Subnormal Cortisol Response to Adrenocorticotropin in Isolated Partial 17,20-Lyase Deficiency
1997
Three Novel <i>CYP11B1</i> Mutations in Congenital Adrenal Hyperplasia due to Steroid 11Beta-Hydroxylase Deficiency in a Moroccan Population
2010
Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
1998
Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses
1997
The duration of puberty in girls is related to the timing of its onset
1997
The serum protein α2–Heremans-Schmid glycoprotein/fetuin-A is a systemically acting inhibitor of ectopic calcification
2003 Standout
The Human Obesity Gene Map: The 2001 Update
2002
Pitfalls in Characterizing P450c17 Mutations Associated with Isolated 17,20-Lyase Deficiency
2001
The Human Obesity Gene Map: The 2003 Update
2004
The role of growth hormone/insulin-like growth factors in adipocyte differentiation
1995
17α-Hydroxylase/17,20-Lyase Deficiency: From Clinical Investigation to Molecular Definition*
1991
Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region
1995
Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study
2013 Standout
SURGERY FOR MOVEMENT DISORDERS
2008
Insulin-Like Growth Factors
1997
Clinical and genetic characterization of families with triple A (Allgrove) syndrome
2002
Recurrent miscarriage
2006 Standout
Dynamics of insulin secretion and the clinical implications for obesity and diabetes
2011
Health Supervision for Children With Down Syndrome
2011 Standout
Polycystic ovary syndrome
2016 Standout
Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures
2009
Obesity in children and young people: a crisis in public health
2004 Standout
Genomic imprinting: parental influence on the genome
2001 Standout
Growth effects of uniparental disomies and the conflict theory of genomic imprinting
1997
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
2013 Standout
The Human Obesity Gene Map: The 2004 Update
2005
DNA methylation and human disease
2005 Standout
THE GENETICS, PATHOPHYSIOLOGX, AND MANAGEMENT OF HUMAN DEFICIENCIES OF P450c17
2001
A catalogue of imprinted genes and parent-of-origin effects in humans and animals
1998
Structural Characterization of Normal and Mutant Human Steroid 17α- Hydroxylase Genes: Molecular Basis of One Example of Combined 17α- Hydroxylase/17,20 Lyase Deficiency
1988
Impaired formation of beta-adrenergic receptor-nucleotide regulatory protein complexes in pseudohypoparathyroidism.
1984 StandoutNobel
Oxidants, antioxidants, and the degenerative diseases of aging.
1993 Standout
Pathophysiology of Human Visceral Obesity: An Update
2013 Standout
The Somatomedin Hypothesis: 2001
2001
Defect of Receptor–Cyclase Coupling Protein in Pseudohypoparathyroidism
1980
Partial Deletion of Pten in the Hypothalamus Leads to Growth Defects that Cannot be Rescued by Exogenous Growth Hormone
2008 StandoutNobel
P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients
2006
Multiple Abnormalities of Anterior Pituitary Hormone Secretion in Association with Pseudohypoparathyroidism*
1980
Obesity and Cardiovascular Disease: Pathophysiology, Evaluation, and Effect of Weight Loss
2005 Standout
Fibroblast Defect in Pseudohypoparathyroidism, Type I: Reduced Activity of Receptor-Cyclase Coupling Protein*
1981
Resistance to multiple hormones in patients with pseudohypoparathyroidism
1983
Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism
2009
Expression of Bovine 17α-Hydroxylase Cytochrome P-450 cDNA in Nonsteroidogenic (COS 1) Cells
1986 Science
Guanine nucleotide-binding regulatory proteins and dual control of adenylate cyclase.
1984 StandoutNobel
Systemic Complications of Acromegaly: Epidemiology, Pathogenesis, and Management
2004 Standout
Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?
1998
Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism
1980
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
Adrenocorticotropin Insensitivity Syndromes
1998
Deficient Prolactin Response to Parathyroid Hormone in Hypocalcemic and Normocalcemic Pseudohypoparathyroidism
1981
Understanding Adipocyte Differentiation
1998 Standout
Imprinting disorders: non-Mendelian mechanisms affecting growth.
2002
Countercurrent Distribution of Two Distinct SNARE Complexes Mediating Transport within the Golgi Stack
2004 StandoutNobel
Pathophysiology of Type 2 Diabetes Mellitus
2020 Standout
The impact of obesity, fat distribution, and energy restriction on insulin-like growth factor-1 (IGF-1), IGF-binding protein-3, insulin, and growth hormone
1994
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Pharmacokinetics, Efficacy, and Safety of a Permeation-Enhanced Testosterone Transdermal System in Comparison with Bi-Weekly Injections of Testosterone Enanthate for the Treatment of Hypogonadal Men*
1999 Standout
Toward Wisdom From Failure
2002
Subcutaneous and Visceral Adipose Tissue: Their Relation to the Metabolic Syndrome
2000 Standout
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
1999
Controls of Hair Follicle Cycling
2001 Standout
Mechanisms of Membrane-Receptor Regulation
1984 StandoutNobel
Site of Action of Low Dose Ketoconazole on Androgen Biosynthesis in Men*
1983
The Timing of Normal Puberty and the Age Limits of Sexual Precocity: Variations around the World, Secular Trends, and Changes after Migration
2003 Standout
Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in theCYP17A1Gene
2009
Insulin Resistance and the Polycystic Ovary Syndrome Revisited: An Update on Mechanisms and Implications
2012 Standout
The Oxytocin Receptor System: Structure, Function, and Regulation
2001 Standout
Genetic analysis of candidate genes for the polycystic ovary syndrome
2002
Stimulation of Spermatogenesis by Gonadotropins in Men with Hypogonadotropic Hypogonadism
1985
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
2000 StandoutScience
Testicular cancer in cryptorchids
1982
Interventions for preventing falls in older people living in the community
2012 Standout
Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects: Opinion
2001 Standout
Endogenous hormones as a major factor in human cancer.
1982
Breast Cancer in Men
2002 Standout
Maternal-Fetal Calcium and Bone Metabolism During Pregnancy, Puerperium, and Lactation*
1997
Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment
1999
Works of E A Werder being referenced
Gonadal function in young adults after surgical treatment of cryptorchidism.
1976
Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation
1995
Psychological Evaluation of Young Women after Medical Treatment for Central Precocious Puberty
2001
Mutations of the androgen receptor gene in patients with complete androgen insensitivity
1997
Recombinant human insulin-like growth factor I (rhIGF I) reduces hyperglycaemia in patients with extreme insulin resistance
1991
A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17β-oestradiol
1990
No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation
2000
Treatment of Precocious Puberty with Cyproterone Acetate
1974
Excessive Thyrotropin Response to Thyrotropin-releasing Hormone in Pseudohypoparathyroidism
1975
Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome.
1993
17α-Hydroxylase/17,20-Lyase Deficiency as a Model to Study Enzymatic Activity Regulation: Role of Phosphorylation*
2000
Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection
1995
Excessive Thyrotropin Response to Thyrotropin-releasing Hormone in Pseudohypoparathyroidism
1975
Treatment of pubertal gynaecomastia with testolactone
1986
The incidence of congenital adrenal hyperplasia in Switzerland--a survey of patients born in 1960 to 1974.
1980
An Inherited Mutation Associated with Functional Deficiency of the α-Subunit of the Guanine Nucleotide-Binding Protein Gs in Pseudo- and Pseudopseudohypoparathyroidism1
1998
Two Types of Male Pseudohermaphroditism due to 17,20-Desmolase Deficiency*
1982
Pseudohypoparathyroidism
1979
Effective long-term treatment of pseudohypoparathyroidism with oral 1α-hydroxy- and 1,25-dihydroxycholecalciferol
1976
Pseudohypoparathyroidism and Idiopathic Hypoparathyroidism: Relationship between Serum Calcium and Parathyroid Hormone Levels and Urinary Cyclic Adenosine-3′,5′- Monophosphate Response to Parathyroid Extract*
1978
The Pattern of Shortening of the Bones of the Hand in PHP and PPHP—A Comparison with Brachydactyly E, Turner Syndrome, and Acrodysostosis
1977