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Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

Data up to Jan 2025

Published1997
Citations101
References46

Total Citations Per Year

Abstract

References (46)

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Molecular cloning: A laboratory manual

1990 • 85,659 citations

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

1989 • 3,458 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

Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

1995 • 606 citations

Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1989 • 575 citations

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

1994 • 430 citations

Allele-specific replication timing of imprinted gene regions

1993 • 385 citations

Angelman syndrome: Consensus for diagnostic criteria

1995 • 368 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 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

Identification of a novel paternally expressed gene in the Prader - Willi syndrome region

1994 • 243 citations

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

1996 • 234 citations

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

1994 • 227 citations

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

1994 • 219 citations

A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

1992 • 212 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

Comparison of the 15q deletions in Prader‐Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1990 • 199 citations

Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region

1994 • 195 citations

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

1996 • 176 citations

Angelman syndrome.

1992 • 167 citations

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndrome

1989 • 164 citations

Maternal imprinting of human SNRPN, a gene deleted in Prader–Willi syndrome

1994 • 163 citations

Functional imprinting and epigenetic modification of the human SNRPN gene

1993 • 158 citations

Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients

1993 • 142 citations

Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)

1994 • 123 citations

Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

1994 • 122 citations

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

1995 • 107 citations

Molecular and clinical study of 61 Angelman syndrome patients

1994 • 104 citations

Maternal but not paternal transmission of 15q11–13–linked nondeletion Angelman syndrome leads to phenotypic expression

1992 • 100 citations

Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region

1993 • 89 citations

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

1993 • 85 citations

Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome

1992 • 69 citations

Domain organization of allele–specific replication within the GABRB3 gene cluster requires a biparental 15q11–13 contribution

1995 • 61 citations

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

1992 • 51 citations

Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications

1994 • 49 citations

Cytogenetic and molecular analysis in Angelman syndrome

1993 • 40 citations

Familial Prader‐Willi syndrome with apparently normal chromosomes

1987 • 38 citations

DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region

1996 • 25 citations

Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

1996 • 25 citations

Prader‐Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13

1992 • 24 citations

Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb

1994 • 20 citations

Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region

1995 • 12 citations

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Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients… (1997) – American Journal of Medical Genetics | Metascience Observatory Explorer