Is there evidence for anticipation in autosomal-dominant polycystic kidney disease?

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 citations

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

1992 • 2,719 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

1993 • 1,596 citations

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

1991 • 1,482 citations

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

1992 • 1,437 citations

Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n

1991 • 903 citations

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1992 • 721 citations

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1985 • 715 citations

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

1991 • 637 citations

New conceptions in the pathogenesis of sciatic pain

1927 • 577 citations

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

1992 • 497 citations

Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease

1992 • 487 citations

Triplet repeat mutations in human disease

1992 • 417 citations

Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families.

1957 • 411 citations

Epidemiology of Adult Polycystic Kidney Disease, Olmsted County, Minnesota: 1935–1980

1983 • 375 citations

Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

1992 • 373 citations

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

1992 • 350 citations

Cyst formation and growth in autosomal dominant polycystic kidney disease

1987 • 327 citations

Dynamic mutations: A new class of mutations causing human disease

1992 • 315 citations

Anticipation in myotonic dystrophy: new light on an old problem.

1992 • 267 citations

Autosomal Dominant Polycystic Kidney Disease—More Than a Renal Disease

1990 • 259 citations

ANTICIPATION IN MYOTONIC DYSTROPHY: FACT OR FICTION?

1989 • 234 citations

Linkage Heterogeneity of Autosomal Dominant Polycystic Kidney Disease

1988 • 227 citations

Fragile-X syndrome: unique genetics of the heritable unstable element.

1992 • 201 citations

Unstable DNA sequence in myotonic dystrophy

1992 • 199 citations

Polycystic Kidney Disease: Prospective Analysis of Nonazotemic Patients and Family Members

1984 • 188 citations

Evidence of founder chromosomes in fragile X syndrome

1992 • 187 citations

Characteristics of very early onset autosomal dominant polycystic kidney disease.

1993 • 175 citations

Anticipation in Huntington's disease is inherited through the male line but may originate in the female.

1988 • 171 citations

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

1993 • 170 citations

Bilateral Polycystic Disease of the Kidneys: A Follow-Up of Two Hundred and Eighty-Four Patients and Their Families.

1958 • 147 citations

EARLY-ONSET DYSTROPHIA MYOTONICA EVIDENCE SUPPORTING A MATERNAL ENVIRONMENTAL FACTOR

1972 • 140 citations

Prognosis of adult onset polycystic kidney disease re-evaluated

1984 • 140 citations

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 • 131 citations

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

1992 • 125 citations

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

1992 • 118 citations

Autosomal Dominant Polycystic Kidney Disease: Presentation, Complications, and Prognosis

1985 • 115 citations

Autosomal dominant polycystic kidney disease: symptoms and clinical findings.

1984 • 95 citations

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

1991 • 93 citations

Reverse Mutation in Myotonic Dystrophy

1993 • 85 citations

Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker

1993 • 79 citations

Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.

1989 • 78 citations

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.

1989 • 77 citations

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

1992 • 74 citations

Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.

1987 • 70 citations

Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.

1987 • 64 citations

Congenital appearance of adult-type (autosomal dominant) polycystic kidney disease

1974 • 63 citations

Intrafamilial Phenotypic Expression of Autosomal Dominant Polycystic Kidney Disease

1992 • 62 citations

Triplet Repeat Mutations in Human Disease

1992 • 62 citations

Infantile presentation of adult-type polycystic kidney disease in a large kindred

1975 • 59 citations

Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting.

1991 • 50 citations

Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?

1985 • 47 citations

The enigma of the fragile X chromosome

1985 • 40 citations

Heredity in Polycystic Disease of the Kidneys

1925 • 34 citations

Screening for polycystic kidney disease: importance of clinical presentation in the newborn.

1987 • 32 citations

High prevalence of the Fra(X) syndrome cannot be explained by a high mutation rate

1992 • 15 citations

Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene.

1992 • 14 citations

Erbbiologie und Erbpathologie des Harnapparates

1940 • 4 citations