Uniparental disomy and genomic imprinting as causes of human genetic disease

Parental imprinting of the mouse insulin-like growth factor II gene

1991 • 1,773 citations

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

1989 • 887 citations

Differential activity of maternally and paternally derived chromosome regions in mice

1985 • 708 citations

The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression

1993 • 692 citations

Genomic imprinting: review and relevance to human diseases.

1990 • 621 citations

Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

1981 • 615 citations

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

1989 • 575 citations

A new genetic concept: Uniparental disomy and its potential effect, isodisomy

1980 • 529 citations

Parental legacy determines methylation and expression of an autosomal transgene: A molecular mechanism for parental imprinting

1987 • 478 citations

Uniparental disomy as a mechanism for human genetic disease.

1988 • 477 citations

Parental genomic imprinting of the human IGF2 gene

1993 • 422 citations

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1993 • 411 citations

Degree of methylation of transgenes is dependent on gamete of origin

1987 • 407 citations

Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole

1982 • 371 citations

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

1991 • 271 citations

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

1992 • 265 citations

The Frequency of Uniparental Disomy in Prader-Willi Syndrome

1992 • 260 citations

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome region

1992 • 243 citations

Is angelman syndrome an alternate result of del(15)(qllql3)?

1987 • 238 citations

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

1992 • 212 citations

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

1989 • 210 citations

Prader-Willi syndrome

1984 • 200 citations

Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism

1991 • 199 citations

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

1994 • 195 citations

The hereditary pancreatitis gene maps to long arm of chromosome 7

1996 • 194 citations

A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression

1992 • 176 citations

Parental origin effects in mice

1986 • 175 citations

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.

1992 • 171 citations

Angelman syndrome.

1992 • 167 citations

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis

1992 • 160 citations

Functional imprinting and epigenetic modification of the human SNRPN gene

1993 • 158 citations

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

1992 • 151 citations

Every pediatrician a geneticist (1983): (With an evolutionary view of disease)

1984 • 150 citations

Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.

1992 • 123 citations

Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection

1991 • 121 citations

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus.

1992 • 109 citations

Chromosome imprinting and the mammalian X chromosome

1975 • 105 citations

Etiology of nondisjunction in humans

1995 • 104 citations

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

1993 • 97 citations

Imprinting by DNA methylation: from transgenes to endogenous gene sequences

1990 • 87 citations

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

1990 • 68 citations

Bloom syndrome and maternal uniparental disomy for chromosome 15.

1994 • 68 citations

Influence of germline modifications of homologous chromosomes on mouse development

1986 • 60 citations

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

1994 • 47 citations

Uniparental disomy: a novel mechanism for thalassemia major [letter]

1992 • 35 citations

Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q.

1989 • 26 citations

Genomic Imprinting in Humans

1994 • 23 citations

Uniparental disomy: a novel mechanism for thalassemia major [letter]

1992 • 21 citations

The search for imprinted genes

1994 • 21 citations

Conference report: First international scientific workshop on Prader‐Willi Syndrome and Other Chromosome 15q Deletion Disorders

1992 • 10 citations

Genomic Imprinting in the Regulation of Mammalian Development

1993 • 5 citations

Molecular genetic medicine

1995 • 2 citations