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

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

1989 • 887 citations

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

1991 • 432 citations

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1995 • 410 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 citations

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

1995 • 299 citations

Maternal uniparental disomy for chromosome 14.

1991 • 200 citations

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

1992 • 151 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

Integration of the Cytogenetic, Genetic, and Physical Maps of the Human Genome by FISH Mapping of CEPH YAC Clones

1996 • 105 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

Chromosomal mapping of genes for transforming growth factors beta 2 and beta 3 in man and mouse: dispersion of TGF-beta gene family.

1988 • 93 citations

Distinct phenotype in maternal uniparental disomy of chromosome 14

1994 • 70 citations

Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter)

1977 • 70 citations

Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype

1991 • 60 citations

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

1996 • 55 citations

The KUP gene, located on human chromosome 14, encodes a protein with two distant zinc fingers

1991 • 44 citations

Absence of predictable phenotypic expression in proximal 15q duplications

1991 • 33 citations

Proximal 15q variant with normal phenotype in three unrelated individuals

1987 • 32 citations

Uniparental disomy and genomic imprinting as causes of human genetic disease

1995 • 27 citations

Duplication of the distal segment of 14q

1983 • 24 citations

Distal trisomy 14q.

1987 • 17 citations

Tandem duplication of chromosome 14 (q24+q32) in male newborn with congenital malformations

1983 • 15 citations

Familial pericentric inversion (14)(p11;q24) with a rec dup(q) in one offspring

1984 • 15 citations

Distal duplication 14q: Report of three cases and further delineation of the syndrome

1984 • 14 citations

Balanced and unbalanced pericentric inversion of a chromosome 14

1978 • 13 citations

Distal trisomy 14q

1990 • 12 citations

Distal trisomy 14q due to tandem duplication (q24 leads to q32).

1983 • 12 citations

[Distal trisomy 14q associated with agenesis of the corpus callosus and truncus arteriosus due to the maternal translocation t(5;14)(q13;q23q32) (author's transl)].

1981 • 12 citations

Familial translocation 5;14 resulting in an unbalanced offspring

1991 • 6 citations