Citation Impact
Citing Papers
Accelerated telomere shortening in response to life stress
2004 StandoutNobel
A Sulfilimine Bond Identified in Collagen IV
2009 StandoutScienceNobel
Rapid Identification of a Disease Allele in Mouse Through Whole Genome Sequencing and Bulk Segregation Analysis
2010 StandoutNobel
The rate of leukocyte telomere shortening predicts mortality from cardiovascular disease in elderly men: a novel demonstration
2008 StandoutNobel
Alport Syndrome and Thin Glomerular Basement Membrane Nephropathy: A Practical Approach to Diagnosis
2009
Population frequencies of inherited neuromuscular diseases—A world survey
1991 Standout
Inclusion body myositis and myopathies
1995 Standout
Long-term effects of cyclosporine A in Alport's syndrome
1999
Non-Transgenic Mouse Models of Kidney Disease
2016 Standout
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome
1998 Standout
The Molecular Basis of Goodpasture and Alport Syndromes
2004
Anti-glomerular basement membrane disease
2003
Analyses and comparisons of telomerase activity and telomere length in human T and B cells: Insights for epidemiology of telomere maintenance
2009 StandoutNobel
The muscular dystrophies
2002 Standout
Molecular mechanisms of resistance and toxicity associated with platinating agents
2006 Standout
Alport Syndrome: An Inherited Disorder of Renal, Ocular, and Cochlear Basement Membranes
1999
Unravelling the genetics of vesicoureteric reflux: a common familial disorder
1996
Extracellular Proteins Needed for C. elegans Mechanosensation
1996 StandoutNobel
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Dissecting muscle and neuronal disorders in a Drosophila model of muscular dystrophy
2007 StandoutNobel
The Characterization of Feces and Urine: A Review of the Literature to Inform Advanced Treatment Technology
2015 Standout
Human Gm, Km, and Am Allotypes and Their Molecular Characterization: A Remarkable Demonstration of Polymorphism
2012
Coordinate Gene Expression of the α3, α4, and α5 Chains of Collagen Type IV
1996
Pathologic Classification of Diabetic Nephropathy
2010 Standout
On the involvement of calpains in the degradation of the tumor suppressor protein p53
1997 StandoutNobel
Distribution of the α1 and α2 chains of collagen IV and of collagens V and VI in Alport syndrome
1992
Urinary Tract Infection: Clinical Practice Guideline for the Diagnosis and Management of the Initial UTI in Febrile Infants and Children 2 to 24 Months
2011 Standout
The Collagen Family
2010 Standout
Dynamics of telomerase activity in response to acute psychological stress
2009 StandoutNobel
The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands
1996
The CEPH Consortium Linkage Map of Human Chromosome 13
1993
M-Type Phospholipase A 2 Receptor as Target Antigen in Idiopathic Membranous Nephropathy
2009 Standout
Three Novel <i>CYP11B1</i> Mutations in Congenital Adrenal Hyperplasia due to Steroid 11Beta-Hydroxylase Deficiency in a Moroccan Population
2010
Calpain-3 mutations in Turkey
2006
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
2005
The limb-girdle muscular dystrophies
2001
Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome
1994
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy
2000
Molecular basis of muscular dystrophies
2000
Mammalian collagen IV
2008
IgG Subclasses and Allotypes: From Structure to Effector Functions
2014 Standout
The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons
1996
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue
2019 Standout
The mouse and human genes encoding the recognition component of the N-end rule pathway
1998 StandoutNobel
Molecular Biology of the 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase Gene Family
2005
Human evolution
1999 StandoutNobel
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Increased Expression of Genes Converting Adrenal Androgens to Testosterone in Androgen-Independent Prostate Cancer
2006 Standout
The role of the Y chromosome in human evolutionary studies
1996
Current Perspectives on Arterial Stiffness and Pulse Pressure in Hypertension and Cardiovascular Diseases
2003 Standout
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
1996
Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.
2009
Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV.
1994
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.
1992
The Calpain System
2003 Standout
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren.
1989
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
Identification of the Goodpasture antigen as the alpha 3(IV) chain of collagen IV.
1988
Genetic instability in human ovarian cancer cell lines.
1994
Telomere Length Inversely Correlates With Pulse Pressure and Is Highly Familial
2000
Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs.
1995 StandoutNobel
Human evolution
1999 StandoutNobel
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
1995
A hungarian study on Werdnig-Hoffmann disease.
1989
Palaeoproteomic evidence identifies archaic hominins associated with the Châtelperronian at the Grotte du Renne
2016 StandoutNobel
Aging, Carotid Artery Distensibility, and the Ser422Gly Elastin Gene Polymorphism in Humans
2001
Works of E Bois being referenced
Gm and Inv Allotypes in French Guiana Indians
1975
Alport's syndrome: experience at Hôpital Necker.
1982
Cluster of acute infantile spinal muscular atrophy (Werdnig‐Hoffmann disease) in a limited area of Reunion Island
1984
Congenital urinary tract malformations: epidemiologic and genetic aspects*
1975
Human genetic diversity (immunoglobulin GM allotypes), linguistic data, and migrations of Amerindian tribes.
1995
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.
1991
[Evidences for genetic transmission of pulse arterial pressure].
1994
Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome).
1972
Cluster of cystic fibrosis cases in a limited area of Brittany (France)
1978
[Congenital adrenal hyperplasia (21-OH) in France. Population genetics].
1985
Genetic heterogeneity of Alport syndrome
1985