Citation Impact
Citing Papers
Isolated 17,20-Lyase Deficiency due to the Cytochrome b5 Mutation W27X
2010
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
2003 Standout
Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
2008
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
1995
Gonadotrophin releasing hormone agonist treatment with or without recombinant human GH in adopted children with early puberty
2001
Growth Hormone Treatment of Non–Growth Hormone-Deficient Growth Disorders
2007
To err (meiotically) is human: the genesis of human aneuploidy
2001 Standout
Transgender people: health at the margins of society
2016 Standout
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
2010
Discovery of a regioselectivity switch in nitrating P450s guided by molecular dynamics simulations and Markov models
2016 StandoutNobel
Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome
2007 StandoutNobel
Mit1/Lb9andCopg2, new members of mouse imprinted genes closely linked toPeg1/Mest
2000
Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents
2017 Standout
Psychological profile of children with Noonan syndrome
2005
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2004
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline
2016 Standout
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
2006 Standout
Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
2013 Standout
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
1997
Androgen synthesis in adrenarche
2008
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
1999
A Homozygous Mutation in the Luteinizing Hormone Receptor Causes Partial Leydig Cell Hypoplasia: Correlation between Receptor Activity and Phenotype
1998
Growth Hormone Treatment and Left Ventricular Dimensions in Turner Syndrome
2007
Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group
2006
G Protein-coupled Receptors
1998 StandoutNobel
Polycystic ovary syndrome and its developmental origins
2007
Williams–Beuren Syndrome
2010 Standout
2-COP, a Novel Imprinted Gene on Chromosome 7q32, Defines a New Imprinting Cluster in the Human Genome
1999
The Ectodomain of the Luteinizing Hormone Receptor Interacts with Exoloop 2 to Constrain the Transmembrane Region
2002 StandoutNobel
Androgen excess fetal programming of female reproduction: a developmental aetiology for polycystic ovary syndrome?
2005
Differential effects of NaCl concentration on the constitutive activity of the thyrotropin and the luteinizing hormone/chorionic gonadotropin receptors
1996
The Third Intracellular Loop and the Carboxyl Terminus of β2-Adrenergic Receptor Confer Spontaneous Activity of the Receptor
2003 StandoutNobel
The biology of human psychosexual differentiation
2006
Congenital adrenal hyperplasia
2005
Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system
2008
A Membrane-proximal Basic Domain and Cysteine Cluster in the C-terminal Tail of CCR5 Constitute a Bipartite Motif Critical for Cell Surface Expression
2001 StandoutNobel
Practical Management of the Intersex Infant
2005
Non-coding RNAs in human disease
2011 Standout
Conformational complexity of G-protein-coupled receptors
2007 StandoutNobel
Ongoing expression of Nkx2.1 in the postnatal mouse forebrain: Potential for understanding NKX2.1 haploinsufficiency in humans?
2009
Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
1998
PROTAC targeted protein degraders: the past is prologue
2022 Standout
Unique features of long non-coding RNA biogenesis and function
2015 Standout
Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses
1997
Activation of the Luteinizing Hormone Receptor Following Substitution of Ser-277 with Selective Hydrophobic Residues in the Ectodomain Hinge Region
2000 StandoutNobel
Consensus Statement on Management of Intersex Disorders
2006 Standout
Complete Androgen Insensitivity Syndrome: Long-Term Medical, Surgical, and Psychosexual Outcome1
2000
Molecular Genetics of 21- Hydroxylase Deficiency
2010
The Role of Asp578 in Maintaining the Inactive Conformation of the Human Lutropin/Choriogonadotropin Receptor
1996
Genotype differences in cognitive functioning in Noonan syndrome
2008
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
2001
Reduced Cell Surface Expression of CCR5 in CCR5Δ32 Heterozygotes Is Mediated by Gene Dosage, Rather Than by Receptor Sequestration
2002 StandoutNobel
Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region
1995
Spontaneous Activation of β2- but Not β1-Adrenoceptors Expressed in Cardiac Myocytes from β1β2Double Knockout Mice
2000 StandoutNobel
Morphological adrenarche in rhesus macaques: development of the zona reticularis is concurrent with fetal zone regression in the early neonatal period
2008
Bone Mineral Density and Body Composition in Short Children Born SGA during Growth Hormone and Gonadotropin Releasing Hormone Analog Treatment
2012
Hormonal Therapies for Individuals with Intersex Conditions
2005
Derivation of Functional Antagonists Using N-Terminal Extracellular Domain of Gonadotropin and Thyrotropin Receptors
1997 StandoutNobel
Predisposing Factors for Adrenal Insufficiency
2009
G protein-coupled receptor structure and function: The impact of disease-causing mutations
1995
CYP17 Mutation E305G Causes Isolated 17,20-Lyase Deficiency by Selectively Altering Substrate Binding
2003
Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures
2009
Prader-Willi syndrome
2012
Pendred's Syndrome and Genetic Defects in Thyroid Hormone Synthesis
2000
Genomic imprinting: parental influence on the genome
2001 Standout
Co-expression of Defective Luteinizing Hormone Receptor Fragments Partially Reconstitutes Ligand-induced Signal Generation
1997 StandoutNobel
Structural features and dynamic investigations of the membrane-bound cytochrome P450 17A1
2015
Growth effects of uniparental disomies and the conflict theory of genomic imprinting
1997
The effects of long-term growth hormone treatment on cardiac left ventricular dimensions and blood pressure in girls with Turner’s syndrome
1999
DNA methylation and human disease
2005 Standout
A Resource of Cre Driver Lines for Genetic Targeting of GABAergic Neurons in Cerebral Cortex
2011 Standout
Transmembrane Regions V and VI of the Human Luteinizing Hormone Receptor Are Required for Constitutive Activation by a Mutation in the Third Intracellular Loop
1996 StandoutNobel
A catalogue of imprinted genes and parent-of-origin effects in humans and animals
1998
Gender Dysphoria and Gender Change in Chromosomal Females with Congenital Adrenal Hyperplasia
2005
Practice Parameters for the Respiratory Indications for Polysomnography in Children
2011
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients
2006
Hydrocortisone Dosing during Puberty in Patients with Classical Congenital Adrenal Hyperplasia: An Evidence-Based Recommendation
2009
Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors
1999
Apparent Manifesting Heterozygosity in P450 Oxidoreductase Deficiency and Its Effect on Coexisting 21-Hydroxylase Deficiency
2007
Endocrine-Disrupting Chemicals: An Endocrine Society Scientific Statement
2009 Standout
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.
1995
The hypothalamus and reproduction
1972 StandoutNobel
THE LUTEINIZING HORMONE RECEPTOR
1998
A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.
1996
Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?
1998
Diagnosis and Management of Childhood Obstructive Sleep Apnea Syndrome
2012 Standout
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society
2002
Physiological and Molecular Basis of Thyroid Hormone Action
2001 Standout
Imprinting disorders: non-Mendelian mechanisms affecting growth.
2002
Growth Hormone Treatment and Aortic Dimensions in Turner Syndrome
2006
Countercurrent Distribution of Two Distinct SNARE Complexes Mediating Transport within the Golgi Stack
2004 StandoutNobel
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
2018
Minireview: Mutations and Diseases of G Protein Coupled Receptors
1995
Somatic and germline mutations of the TSH receptor gene in thyroid diseases.
1995
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.
1995
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Early origins of polycystic ovary syndrome
2005
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
1999
Sox3 Is Required for Gonadal Function, but Not Sex Determination, in Males and Females
2003
Ambiguous Genitalia With Perineoscrotal Hypospadias in 46,XY Individuals: Long-Term Medical, Surgical, and Psychosexual Outcome
2002
Human Cytochrome b5 Requires Residues E48 and E49 to Stimulate the 17,20-Lyase Activity of Cytochrome P450c17
2005
Psychological profile of children with Noonan syndrome
2007
Cellular and disease functions of the Prader–Willi Syndrome geneMAGEL2
2017
Molecular Genetics of Hearing Loss
2001
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline
2019
The Timing of Normal Puberty and the Age Limits of Sexual Precocity: Variations around the World, Secular Trends, and Changes after Migration
2003 Standout
Silencing of the Constitutive Activity of the Dopamine D1B Receptor
1996
Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in theCYP17A1Gene
2009
Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society* Clinical Practice Guideline
2017 Standout
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
Spontaneous Activation of β2- but Not β1-Adrenoceptors Expressed in Cardiac Myocytes from β1β2 Double Knockout Mice
2000 StandoutNobel
Protein Glycoengineering Enabled by the Versatile Synthesis of Aminooxy Glycans and the Genetically Encoded Aldehyde Tag
2011 StandoutNobel
Molecular Dynamic Investigations of the Mutational Effects on Structural Characteristics and Tunnel Geometry in CYP17A1
2013
A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.
1995
Regulation of the human menstrual cycle
1971
Central and peripheral isosexual precocious puberty
2001
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
2000 StandoutScience
Mutations of Gonadotropins and Gonadotropin Receptors: Elucidating the Physiology and Pathophysiology of Pituitary-Gonadal Function
2000
A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases.
1994
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Diagnosis and Management of Childhood Obstructive Sleep Apnea Syndrome
2012 Standout
Genetics of Sensory Mechanotransduction
2002 StandoutNobel
A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.
1995
TEMPORAL PATTERN FORMATION BY HETEROCHRONIC GENES
1997 StandoutNobel
Works of Barto J. Otten being referenced
High Prevalence of Central Adrenal Insufficiency in Patients with Prader-Willi Syndrome
2008
Final Height in Girls with Turner Syndrome after Long-Term Growth Hormone Treatment in Three Dosages and Low Dose Estrogens
2003
Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings
1996
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2007
Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation
1995
Quantitative calcaneal ultrasound parameters and bone mineral density at final height in girls treated with depot gonadotrophin-releasing hormone agonist for central precocious puberty or idiopathic short stature
2003
The long term outcome of feminizing genital surgery for congenital adrenal hyperplasia: anatomical, functional and cosmetic outcomes, psychosexual development, and satisfaction in adult female patients
2003
Differential Inhibition of 17α-Hydroxylase and 17,20-Lyase Activities by Three Novel Missense CYP17 Mutations Identified in Patients with P450c17 Deficiency
2002
Normalization of Height in Girls with Turner Syndrome after Long-Term Growth Hormone Treatment: Results of a Randomized Dose-Response Trial1
1999
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred’s syndrome
1998
Growth Inhibition by Glucocorticoid Treatment in Salt Wasting 21-Hydroxylase Deficiency: In Early Infancy and (Pre)Puberty
2003
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
1993
Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression
1999
Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features
2003
Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage
2007
Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene
2004
High Prevalence of Testicular Adrenal Rest Tumors, Impaired Spermatogenesis, and Leydig Cell Failure in Adolescent and Adult Males with Congenital Adrenal Hyperplasia
2001
Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population
2012
Psychomotor Development in Infants with Prader-Willi Syndrome and Associations with Sleep-Related Breathing Disorders
2007
Fertility in Women With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
2003
Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader–Willi syndrome
2008
Objective evaluation of muscle strength in infants with hypotonia and muscle weakness
2013
17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations1
1999
Normal Bone Mineral Density and Lean Body Mass, but Increased Fat Mass, in Young Adult Patients with Congenital Adrenal Hyperplasia
2003
Cutoff Levels of 17-α-Hydroxyprogesterone in Neonatal Screening for Congenital Adrenal Hyperplasia Should Be Based on Gestational Age Rather Than on Birth Weight
2005
Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome
1998
Salivary morning androstenedione and 17α-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia
2014
Testicular Adrenal Rest Tumors in Adult Males with Congenital Adrenal Hyperplasia: Evaluation of Pituitary-Gonadal Function before and after Successful Testis-Sparing Surgery in Eight Patients
2006
Randomized Controlled Trial to Investigate the Effects of Growth Hormone Treatment on Scoliosis in Children with Prader-Willi Syndrome
2009
CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations
2003
Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands
2001