Growth effects of uniparental disomies and the conflict theory of genomic imprinting

Parent-Offspring Conflict

1974 • 4,102 citations

A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting

1990 • 1,650 citations

UBE3A/E6-AP mutations cause Angelman syndrome

1997 • 1,270 citations

Genetic Conflicts in Human Pregnancy

1993 • 1,234 citations

Genomic imprinting in mammalian development: a parental tug-of-war

1991 • 1,178 citations

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1997 • 847 citations

Disruption of imprinting caused by deletion of the H19 gene region in mice

1995 • 765 citations

Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

1997 • 753 citations

Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality.

1994 • 593 citations

Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.

1997 • 496 citations

Genomic imprinting and the strange case of the insulin-like growth factor II receptor

1991 • 494 citations

Uniparental disomy as a mechanism for human genetic disease.

1988 • 477 citations

Genomic imprinting of Mash2, a mouse gene required for trophoblast development

1995 • 366 citations

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

1995 • 299 citations

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

1996 • 223 citations

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

1989 • 210 citations

Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.

1997 • 205 citations

Maternal uniparental disomy for chromosome 14.

1991 • 200 citations

Uniparental disomy for chromosome 16 in humans.

1993 • 190 citations

Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia

1994 • 179 citations

Human PEG1/MEST, an Imprinted Gene on Chromosome 7

1997 • 158 citations

Maternal uniparental disomy 7 in Silver-Russell syndrome.

1997 • 153 citations

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

1992 • 151 citations

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

1996 • 145 citations

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

1991 • 143 citations

A somatic origin of homologous Robertsonian translocations and isochromosomes.

1994 • 127 citations

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

1992 • 109 citations

Paternal uniparental disomy for chromosome 14: A case report and review

1997 • 104 citations

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

1993 • 102 citations

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

1994 • 99 citations

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

1997 • 96 citations

An audit of trisomy 16 in man

1995 • 93 citations

Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.

1994 • 89 citations

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

1995 • 86 citations

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

1994 • 86 citations

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

1980 • 82 citations

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter

1980 • 79 citations

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

1997 • 72 citations

Distinct phenotype in maternal uniparental disomy of chromosome 14

1994 • 70 citations

Endosperm development in Zea mays; implication of gametic imprinting and paternal excess in regulation of transfer layer development

1995 • 69 citations

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

1990 • 68 citations

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

1995 • 67 citations

MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 2 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 AND SEVERE INTRAUTERINE GROWTH RETARDATION

1996 • 67 citations

MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION, HYPOSPADIAS, AND OLIGOHYDRAMNIOS

1997 • 67 citations

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

1993 • 63 citations

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

1990 • 60 citations

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

1996 • 58 citations

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

1987 • 58 citations

Human maternal uniparental disomy for chromosome 16 and fetal development

1994 • 58 citations

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)

1996 • 57 citations

Glomerular-Specific Imprinting of the Mouse Gsα Gene: How Does This Relate to Hormone Resistance in Albright Hereditary Osteodystrophy?

1996 • 55 citations

Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty

1996 • 55 citations

Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.

1994 • 53 citations

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

1996 • 53 citations

Genomic imprinting related to prenatal diagnosis

1994 • 49 citations

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.

1997 • 49 citations

Transient Neonatal Diabetes Mellitus in Sibs

1970 • 49 citations

Uniparental Disomy in Cartilage-Hair Hypoplasia

1997 • 49 citations

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

1994 • 47 citations

Uniparental maternal disomy 6 in a renal transplant patient

1996 • 44 citations

A clinical and molecular study of mosaicism for trisomy 17

1996 • 41 citations

Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.

1996 • 39 citations

Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q)

1995 • 39 citations

A case of paternal uniparental disomy for chromosome 11

1995 • 39 citations

Maternal Uniparental Disomy for Chromosome 14

1996 • 37 citations

A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line.

1992 • 35 citations

Exclusively paternal X chromosomes in a girl with short stature

1993 • 34 citations

Early embryonic failure associated with uniparental disomy for human chromosome 21

1994 • 32 citations

Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16

1996 • 32 citations

The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies

1997 • 32 citations

MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22

1997 • 31 citations

Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

1993 • 31 citations

A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9

1996 • 30 citations

Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

1996 • 29 citations

Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism

1995 • 29 citations

Uniparental isodisomy for chromosome 16 in a growth‐retarded infant with congenital heart disease

1995 • 28 citations

CASE REPORT: UNIPARENTAL DISOMY 16 IN ASSOCIATION WITH CONGENITAL HEART DISEASE

1996 • 24 citations

Fortuitous detection of uniparental isodisomy of chromosome 6.

1997 • 23 citations

Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus

1997 • 18 citations

Duplication 14(q24.3q31) in a father and daughter: Delineation of a possible imprinted region

1997 • 16 citations