Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
Data up to Jan 2025
Total Citations Per Year
Abstract
References (28)
Introduction to Statistical Analysis.
1970 • 1,442 citations
Prader-Willi Syndrome: Consensus Diagnostic Criteria
1993 • 1,279 citations
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
1989 • 887 citations
High Resolution of Human Chromosomes
1976 • 786 citations
Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome
1981 • 615 citations
Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15
1995 • 606 citations
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
1993 • 411 citations
Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome
1986 • 319 citations
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
1991 • 271 citations
The Frequency of Uniparental Disomy in Prader-Willi Syndrome
1992 • 260 citations
The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes
1992 • 231 citations
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.
1994 • 219 citations
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
1992 • 203 citations
Prader-Willi syndrome
1984 • 200 citations
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy
1993 • 174 citations
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.
1992 • 171 citations
Genomic imprinting and uniparental disomy in Angelman and Prader‐Willi syndromes: A review
1993 • 159 citations
Every pediatrician a geneticist (1983): (With an evolutionary view of disease)
1984 • 150 citations
Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
1994 • 122 citations
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome
1995 • 120 citations
Nondisjunction of chromosome 15: origin and recombination.
1993 • 109 citations
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.
1995 • 107 citations
Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.
1989 • 106 citations
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences
1996 • 73 citations
Hypopigmentation in the Prader-Willi syndrome.
1987 • 62 citations
Domain organization of allele–specific replication within the GABRB3 gene cluster requires a biparental 15q11–13 contribution
1995 • 61 citations
Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader‐Willi syndrome and angelman syndrome
1994 • 53 citations
Uniparental disomy and genomic imprinting as causes of human genetic disease
1995 • 27 citations