Published in Am J Hum Genet on May 01, 1994
Genomic imprinting: implications for human disease. Am J Pathol (1999) 2.26
Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet (1999) 1.93
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet (1997) 1.81
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci U S A (1996) 1.76
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet (2001) 1.71
The evolution of genomic imprinting. Genetics (1996) 1.59
New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet (1994) 1.55
Prader-Willi syndrome. J Med Genet (1997) 1.52
Dynamic methylation adjustment and counting as part of imprinting mechanisms. Proc Natl Acad Sci U S A (1996) 1.35
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res (1997) 1.34
Mechanisms of genomic imprinting. Am J Hum Genet (2000) 1.34
The imprinting mechanism of the Prader-Willi/Angelman regional control center. EMBO J (2002) 1.22
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet (1999) 1.21
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res (1998) 1.17
A candidate model for Angelman syndrome in the mouse. Mamm Genome (1997) 1.12
Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus. Genetics (1995) 1.11
Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee. Am J Hum Genet (1996) 1.10
Ubiquitin ligase components Cullin4 and DDB1 are essential for DNA methylation in Neurospora crassa. J Biol Chem (2009) 1.06
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet (1995) 1.05
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am J Hum Genet (1997) 0.97
Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila. Proc Natl Acad Sci U S A (1998) 0.93
The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet (1995) 0.93
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Hum Genet (1997) 0.92
Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene? Am J Hum Genet (1996) 0.91
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. J Med Genet (1998) 0.91
Mouse chromosome engineering for modeling human disease. Annu Rev Genomics Hum Genet (2006) 0.90
Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion. Hum Mol Genet (2013) 0.90
Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy. Am J Hum Genet (1996) 0.88
Imprinted genes as potential genetic and epigenetic toxicologic targets. Environ Health Perspect (2000) 0.88
Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs. Hum Mol Genet (2014) 0.87
Prader-Willi Syndrome: Clinical and Genetic Findings. Endocrinologist (2000) 0.87
Prader-Willi syndrome: A primer for clinicians. Int J Pediatr Endocrinol (2011) 0.87
RNAs of the human chromosome 15q11-q13 imprinted region. Wiley Interdiscip Rev RNA (2012) 0.83
Neuroepigenomics: Resources, Obstacles, and Opportunities. Neuroepigenetics (2015) 0.81
The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction. Am J Hum Genet (1996) 0.81
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. J Med Genet (1995) 0.79
Neocortical development as an evolutionary platform for intragenomic conflict. Front Neuroanat (2013) 0.78
Epigenetics in critical illness: a new frontier. Nurs Res Pract (2013) 0.77
Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families. J Med Genet (1997) 0.75
Benefits and limitations of prenatal screening for Prader-Willi syndrome. Prenat Diagn (2016) 0.75
Parental imprinting of the mouse H19 gene. Nature (1991) 5.13
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature (1989) 4.72
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med (1981) 4.25
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet (1989) 3.22
Parental-origin-specific epigenetic modification of the mouse H19 gene. Nature (1993) 3.11
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet (1992) 2.41
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35
Uniparental paternal disomy in Angelman's syndrome. Lancet (1991) 2.26
Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation. Genetics (1987) 2.17
Allele-specific replication timing of imprinted gene regions. Nature (1993) 2.08
Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet (1987) 2.03
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet (1989) 2.00
Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet (1993) 1.84
Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet (1983) 1.82
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics (1992) 1.82
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet (1992) 1.57
DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet (1991) 1.49
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet (1993) 1.49
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Lancet (1992) 1.37
Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet (1993) 1.33
Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet (1992) 1.26
Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nat Genet (1992) 1.25
FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet (1993) 1.22
Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet (1992) 1.12
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet (1992) 1.11
Linkage analysis in familial Angelman syndrome. Am J Hum Genet (1993) 1.07
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum Mol Genet (1993) 1.05
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. Am J Med Genet (1992) 0.99
Genetic analysis of genomic imprinting: an Imprintor-1 gene controls inactivation of the paternal copy of the mouse Tme locus. Cell (1992) 0.95
Exclusion of the GABAA-receptor beta 3 subunit gene as the Angelman's syndrome gene. Lancet (1993) 0.93
An NciI RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13. Hum Mol Genet (1993) 0.87
StyI polymorphism at the D15S11 locus. Nucleic Acids Res (1990) 0.84
Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. Am J Med Genet (1992) 0.83
Differentiated recurrence risk estimations in the Prader-Willi syndrome. Clin Genet (1992) 0.81
Three allele TaqI RFLP for probe 3-21 [D15S10] on chromosome 15q. Nucleic Acids Res (1989) 0.78
A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet (1984) 7.73
Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification. Nature (1989) 7.14
UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet (1997) 5.97
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature (1989) 4.72
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci U S A (2000) 4.54
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature (1992) 4.44
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet (1996) 4.36
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet (1995) 3.79
Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci U S A (1986) 3.54
Validation of experimental charge densities: refinement of the macrolide antibiotic roxithromycin. Acta Crystallogr B (2010) 3.52
Prognostic implications of monosomy 3 in uveal melanoma. Lancet (1996) 3.26
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature (1993) 3.24
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet (1989) 3.22
Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet (1984) 3.17
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum Mol Genet (2001) 3.07
Association of a human G-protein beta3 subunit variant with hypertension. Nat Genet (1998) 2.98
Imprinting in Prader-Willi and Angelman syndromes. Trends Genet (1998) 2.85
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet (1989) 2.80
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet (1997) 2.77
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet (1999) 2.57
Homologous association of oppositely imprinted chromosomal domains. Science (1996) 2.54
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet (1992) 2.41
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nat Genet (2000) 2.30
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet (1995) 2.29
RAB22 and RAB163/mouse BRCA2: proteins that specifically interact with the RAD51 protein. Proc Natl Acad Sci U S A (1997) 2.23
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet (2000) 2.23
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature (1990) 2.20
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet (1998) 2.16
Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum Mol Genet (1999) 2.02
A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). J Med Genet (2000) 2.00
Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev (2001) 1.99
Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nat Genet (2001) 1.97
Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet (1999) 1.93
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet (1997) 1.90
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet (1997) 1.88
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Am J Hum Genet (2003) 1.86
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet (2000) 1.85
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet (1990) 1.83
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals. J Am Soc Nephrol (1999) 1.76
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci U S A (1996) 1.76
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. Eur J Hum Genet (1999) 1.74
Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by Epstein-Barr virus complementary RNA/DNA and viral DNA/DNA hybridization. Cancer Res (1981) 1.72
Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families. Nature (1987) 1.68
A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis. Lancet (1985) 1.64
Inhibition of the G1-S transition of the cell cycle by inhibitors of deoxyhypusine hydroxylation. Biochim Biophys Acta (1994) 1.62
A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals. Clin Genet (1985) 1.62
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet (2000) 1.61
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma. Am J Med Genet (1991) 1.59
Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization. Cancer Res (1994) 1.57
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet (1992) 1.57
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. Hum Mol Genet (1997) 1.55
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet (1993) 1.55
Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. Cancer Genet Cytogenet (1997) 1.55
Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet (1994) 1.53
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum Genet (1999) 1.51
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet (1994) 1.49
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. J Med Genet (2005) 1.49
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet (1993) 1.49
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis. Hum Genet (1992) 1.49
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet (2000) 1.48
Molecular detection and differentiation of deletions in band 13q14 in human retinoblastoma. Cancer Genet Cytogenet (1986) 1.47
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet (2001) 1.44
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet (1996) 1.43
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet (2007) 1.41
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40
A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet (1990) 1.39
Mutation screening in Rett syndrome patients. J Med Genet (2000) 1.38
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics (1993) 1.38