Citation Impact
Citing Papers
1,25-Dihydroxyvitamin D3 is a negative endocrine regulator of the renin-angiotensin system
2002 Standout
Posterior pattern formation in C. elegans involves position-specific expression of a gene containing a homeobox
1988 StandoutNobel
Testosterone Therapy in Men with Androgen Deficiency Syndromes: An Endocrine Society Clinical Practice Guideline
2010 Standout
Bowel Disorders
2016 Standout
Recalled menarche in relation to infertility and adult weight and height
1995
Insulin-Like Growth Factors I and II. Peptide, Messenger Ribonucleic Acid and Gene Structures, Serum, and Tissue Concentrations*
1989 Standout
Calcium's Role in Mechanotransduction during Muscle Development
2014 Standout
Effects of stunting, diarrhoeal disease, and parasitic infection during infancy on cognition in late childhood: a follow-up study
2002 Standout
Gender differences in the experience of headache
1990
Effects of Cryptosporidium parvum Infection in Peruvian Children: Growth Faltering and Subsequent Catch-up Growth
1998
Recognition and repair of the cyclobutane thymine dimer, a major cause of skin cancers, by the human excision nuclease
2003 StandoutNobel
Production of a severe cystic fibrosis mutation in mice by gene targeting
1993 StandoutNobel
Are oestrogens involved in falling sperm counts and disorders of the male reproductive tract?
1993 Standout
Carriers for type II 3β‐hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test
2003
Mutation of HOXA13 in hand-foot-genital syndrome
1997
Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
2013 Standout
The Characterization of Feces and Urine: A Review of the Literature to Inform Advanced Treatment Technology
2015 Standout
First confirmed detection of SARS-CoV-2 in untreated wastewater in Australia: A proof of concept for the wastewater surveillance of COVID-19 in the community
2020 Standout
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Sox9 is required for cartilage formation
1999 Standout
Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
1993 Standout
Maternal and child undernutrition: global and regional exposures and health consequences
2008 Standout
Duplication of the Hoxd11 Gene Causes Alterations in the Axial and Appendicular Skeleton of the Mouse
2002 StandoutNobel
Roadmap to embryo implantation: clues from mouse models
2006 Standout
Congenital adrenal hyperplasia
2005
Adenovirus-mediated transfer of human lipase complementary DNA to the gallbladder
1994
Timing of Pubertal Maturation in Girls: An Integrated Life History Approach.
2004 Standout
Cockayne syndrome: Review of 140 cases
1992
A Multigene Family Encoding a Diverse Array of Putative Pheromone Receptors in Mammals
1997 StandoutNobel
Three Novel <i>CYP11B1</i> Mutations in Congenital Adrenal Hyperplasia due to Steroid 11Beta-Hydroxylase Deficiency in a Moroccan Population
2010
Hoxc13 mutant mice lack external hair
1998 StandoutNobel
Review: Management of Postprandial Diarrhea Syndrome
2012
Cystic Fibrosis Transmembrane Conductance Regulator Mediates the Cyclic Adenosine Monophosphate–Induced Fluid Secretion But Not the Inhibition of Resorption in Mouse Gallbladder Epithelium
1997 StandoutNobel
Oral Contraceptives and the Management of Hyperandrogenism–Polycystic Ovary Syndrome in Adolescents
2005
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
1994
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
2015 Standout
The diagnosis of polycystic ovary syndrome in adolescents
2010
The Persistent Mullerian Duct Syndrome: A Molecular Approach*
1989
Age at menarche in athletes and their mothers and sisters
1994
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
HoxGroup 3 Paralogs Regulate the Development and Migration of the Thymus, Thyroid, and Parathyroid Glands
1998 StandoutNobel
Oxidants, antioxidants, and the degenerative diseases of aging.
1993 Standout
Newly Proposed Hormonal Criteria via Genotypic Proof for Type II 3β-Hydroxysteroid Dehydrogenase Deficiency
2002
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
1992
Involutional Osteoporosis
1986 Standout
TGF-β SIGNAL TRANSDUCTION
1998 Standout
Familial Incomplete Male Pseudohermaphroditism, Type 2
1974 StandoutNobel
Mechanisms of Insulin Action and Insulin Resistance
2018 Standout
Familial Incomplete Male Pseudohermaphroditism, Type 1
1974 StandoutNobel
Impaired growth hormone secretion in the adult population: relation to age and adiposity.
1981
Skeletal muscle mass and distribution in 468 men and women aged 18–88 yr
2000 Standout
Hypothalamic Regulatory Hormones
1973 StandoutScienceNobel
Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal
2009
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*
2000
Variations in the Pattern of Pubertal Changes in Boys
1970 Standout
Gluten, major histocompatibility complex, and the small intestine
1992 Standout
Gonadal dysgenesis induced by prenatal exposure to ethinyl estradiol in mice
1985
Yeast Nucleotide Excision Repair Proteins Rad2 and Rad4 Interact with RNA Polymerase II Basal Transcription Factor b (TFIIH)
1994 StandoutNobel
Loss ofEph-receptorexpression correlates with loss of cell adhesion and chondrogenic capacity inHoxa13mutant limbs
2001 StandoutNobel
SPECIFICITY OF THE HUMAN INTESTINAL DISACCHARIDASES AND IMPLICATIONS FOR HEREDITARY DISACCHARIDE INTOLERANCE*
1962
Growth and Growth Hormone
1968
Relationship of somatomedin-C concentrations to pubertal changes
1983 Standout
Method for assay of intestinal disaccharidases
1964 Standout
Putative pheromone receptors related to the Ca 2+ -sensing receptor in Fugu
1998 StandoutNobel
Yeast nucleotide excision repair proteins Rad2 and Rad4 interact with RNA polymerase II basal transcription factor b (TFIIH).
1994 StandoutNobel
ERCC4 (XPF) Encodes a Human Nucleotide Excision Repair Protein with Eukaryotic Recombination Homologs
1996 StandoutNobel
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Paralogous mouse Hox genes, Hoxa9, Hoxb9, and Hoxd9, function together to control development of the mammary gland in response to pregnancy
1999 StandoutNobel
The Disorder in Childhood
1974
Clinical and molecular genetics of Stickler syndrome
1999
Prevalence of Migraine Headache in the United States
1992 Standout
Hoxb13is required for normal differentiation and secretory function of the ventral prostate
2003 StandoutNobel
Assessment and management of polycystic ovary syndrome: summary of an evidence‐based guideline
2011
Stimulation of Spermatogenesis by Gonadotropins in Men with Hypogonadotropic Hypogonadism
1985
Quantitative assessment of exocrine pancreatic function in infants and children
1968
Transforming Growth Factor-β: Biological Function and Chemical Structure
1986 StandoutScience
Homoeobox gene Hox-1.5 expression in mouse embryos: earliest detection by in situ hybridization is during gastrulation
1987
Genetic and environmental factors affecting menarcheal age in Spanish women
1997
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes
1985
Targeted ablation of the 25-hydroxyvitamin D 1α-hydroxylase enzyme: Evidence for skeletal, reproductive, and immune dysfunction
2001
Endogenous hormones as a major factor in human cancer.
1982
Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts
1997
The Antimüllerian Hormone
1977
Cockayne syndrome group B protein enhances elongation by RNA polymerase II
1997 StandoutNobel
Works of A Prader being referenced
Oto-spondylo-megaepiphyseal dysplasia (OSMED).
1982
Gonadal function in young adults after surgical treatment of cryptorchidism.
1976
Pathophysiology of puberty
1980
Familial Occurrence of Persistent Müllerian Structures in Otherwise Normal Males
1973
MRI in Cockayne syndrome type I
1989
Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: Detection by ultrasonography
1991
The Effect of Human Growth Hormone in Hypopituitary Dwarfism
1964
Sucrose-Isomaltose Malabsorption in an Adult Woman
1964
Hand-foot-uterus- (HFU) syndrome with hypospadias: The hand-foot-genital- (HFG) syndrome
1976
Study of Δ5, 3β-Hydroxysteroid Dehydrogenase in Normal, Hyperplastic and Neoplastic Adrenal Cortical Tissue
1964
[An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets].
1961
[Diarrhea due to hereditary deficiency of intestinal saccharase activity (saccharose intolerance)].
1961
Correlation between testicular tissue and H‐Y phenotype in intersex patients
1983
Symptoms related to menstruation in adolescent Swiss girls: a longitudinal study
1985
Menstrual patterns in adolescent Swiss girls: a longitudinal study
1984
The incidence of congenital adrenal hyperplasia in Switzerland--a survey of patients born in 1960 to 1974.
1980
FECAL FAT AND NITROGEN IN HEALTHY CHILDREN AND IN CHILDREN WITH MALABSORPTION OR MALDIGESTION
1970
Quantitative assessment of exocrine pancreatic function in infants and children.
1967
Dedicated to Dr. Guido Fanconi on the occasion of his 80th birthday Catch-up Growth in Malnutrition, Studied in Celiac Disease After Institution of Gluten-free Diet
1972
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia.
1984