Citation Impact
Citing Papers
Vascular Klotho Deficiency Potentiates the Development of Human Artery Calcification and Mediates Resistance to Fibroblast Growth Factor 23
2012 Standout
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
2001
Syndromes of disordered chromatin remodeling
2003
Advances in Molecular Analysis of Fragile X Syndrome
1994
Cancer Invasion and the Microenvironment: Plasticity and Reciprocity
2011 Standout
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
2003
Disease-Specific Induced Pluripotent Stem Cells
2008 Standout
Multiple phases of chondrocyte enlargement underlie differences in skeletal proportions
2013 StandoutNature
Tandem repeats finder: a program to analyze DNA sequences
1999 Standout
Epigenetics in human disease and prospects for epigenetic therapy
2004 StandoutNature
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Fibroblast Growth Factor 23 and Mortality among Patients Undergoing Hemodialysis
2008 Standout
Huntington's disease
2007 Standout
The GRK4 Subfamily of G Protein-coupled Receptor Kinases
1999 StandoutNobel
Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid β-peptide
2007 Standout
The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy
2000
Glycopeptide-preferring Polypeptide GalNAc Transferase 10 (ppGalNAc T10), Involved in Mucin-type O-Glycosylation, Has a Unique GalNAc-O-Ser/Thr-binding Site in Its Catalytic Domain Not Found in ppGalNAc T1 or T2
2009 StandoutNobel
Molecular biology of temporomandibular joint disorders: Proposed mechanisms of disease
1995
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
Function and Regulation of CREB Family Transcription Factors in the Nervous System
2002 Standout
High-Resolution Mapping of Crossovers in Human Sperm Defines a Minisatellite-Associated Recombination Hotspot
1998
Vitamin D Deficiency
2007 Standout
The muscular dystrophies
2002 Standout
Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism
1994
Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF-23-producing tumour of the distal ulna
2004
High-Resolution Patterns of Meiotic Recombination across the Human Major Histocompatibility Complex
2002
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
2006 StandoutNobel
DNA sequence variation in a non-coding region of low recombination on the human X chromosome
1999 StandoutNobel
Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene
2000
Skeletal remodeling in health and disease
2007 Standout
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Why do human diversity levels vary at a megabase scale?
2005 StandoutNobel
Fibroblast growth factor signalling: from development to cancer
2010 Standout
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
1997 Standout
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
2006
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
1995
Flexible Structures of SIBLING Proteins, Bone Sialoprotein, and Osteopontin
2001
Characterization of the G Protein-coupled Receptor Kinase GRK4
1996 StandoutNobel
A Novel Multiple PDZ Domain-containing Molecule Interacting withN-Methyl-d-aspartateReceptors and Neuronal Cell Adhesion Proteins
1998 StandoutNobel
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
1995 Standout
Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism
2004 Standout
Circulating FGF-23 Is Regulated by 1α,25-Dihydroxyvitamin D3 and Phosphorus in Vivo
2004
Adaptations of masticatory muscles to a hyperpropulsive appliance in the rat
1996
Fine-scale recombination patterns differ between chimpanzees and humans
2005 StandoutNobel
PHEX gene and hypophosphatemia
2000
Klotho converts canonical FGF receptor into a specific receptor for FGF23
2006 StandoutNature
Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus
1995
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis
2012
Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy
1993
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
1993 Standout
Minisatellite diversity supports a recent African origin for modern humans
1996 StandoutNobel
Mechanism of longitudinal bone growth and its regulation by growth plate chondrocytes
1994
Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy
2005
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
1996 Nature
Small integrin-binding ligand N-linked glycoproteins (SIBLINGs): multifunctional proteins in cancer
2008
Ionic-Liquid-Mediated Extraction and Separation Processes for Bioactive Compounds: Past, Present, and Future Trends
2017 Standout
Excess of Rare Amino Acid Polymorphisms in the Toll-like Receptor 4 in Humans
2001 StandoutNobel
DNA Variability and Recombination Rates at X-Linked Loci in Humans
1998
The evolving technology of DNA fingerprinting and its application to fisheries and aquaculture
1995
Phosphorylated Proteins and Control over Apatite Nucleation, Crystal Growth, and Inhibition
2008
Regulation of C-Terminal and Intact FGF-23 by Dietary Phosphate in Men and Women
2006
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism
2004 Standout
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
Extensive Nuclear DNA Sequence Diversity Among Chimpanzees
1999 StandoutScienceNobel
Haplotype studies in Wilson disease.
1994
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
Fiber Types in Mammalian Skeletal Muscles
2011 Standout
Comparative sequence analysis of the human and pufferfish Huntington's disease genes
1995 StandoutNobel
Classification of Intrinsically Disordered Regions and Proteins
2014 Standout
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Neural Science
2000 StandoutNobel
Mammalian Meiotic Recombination Hot Spots
2007
Polydopamine and Its Derivative Materials: Synthesis and Promising Applications in Energy, Environmental, and Biomedical Fields
2014 Standout
Contrasting Evolutionary Histories of Two Introns of the Duchenne Muscular Dystrophy Gene, Dmd, in Humans
2000
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
2000
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
1994
Temporomandibular Disorders
2008 Standout
Delineation of the dystonia-parkinsonism syndrome locus in Xq13.
1992
Neuroscience: Breaking Down Scientific Barriers to the Study of Brain and Mind
2000 StandoutScienceNobel
Oxidative Stress, Glutamate, and Neurodegenerative Disorders
1993 StandoutScience
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Evolutionary Comparison of the Mechanism of DNA Cleavage with Respect to Immune Diversity and Genomic Instability
2012 StandoutNobel
CREB: A Stimulus-Induced Transcription Factor Activated by A Diverse Array of Extracellular Signals
1999 Standout
Tumors Associated With Oncogenic Osteomalacia Express Genes Important in Bone and Mineral Metabolism
2002
Works of C Oudet being referenced
[Effect of devices for mandibular propulsion and retropulsion on the number of serial sarcomeres of the external pterygoid muscle and on the growth of condylar cartilage in young rats].
1973
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
1992
MEPE, a New Gene Expressed in Bone Marrow and Tumors Causing Osteomalacia
2000
Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets
1997
Striking Founder Effect for the Fragile X Syndrome in Finland
1993
Construction of a High-Resolution Linkage Map for Xp22.1-p22.2 and Refinement of the Genetic Localization of the Coffin-Lowry Syndrome Gene
1994
Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues
1999
An experimental orthopedic treatment of the rat mandible using a functional appliance alters the fibre and myosin types in masticatory muscles
1988
A PHEX Gene Mutation Is Responsible for Adult-Onset Vitamin D-Resistant Hypophosphatemic Osteomalacia: Evidence That the Disorder Is Not a Distinct Entity from X-Linked Hypophosphatemic Rickets1
1998
Nyctohemeral and seasonal variations in the number of tritiated thymidine labelled cells in the epiphyseal cartilage of the tibia in the growing rat. Effect of lighting duration and temperature.
1981
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2
1992
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.
1991
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.
1993