Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Recognizable Patterns of Human Malformation

1985 • 922 citations

Mendelian Inheritance in Man

1998 • 760 citations

Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter.

1956 • 625 citations

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

1981 • 615 citations

A strategy to reveal high-frequency RFLPs along the human X chromosome.

1984 • 361 citations

MOUSE tau HAPLOTYPES

1985 • 333 citations

Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome

1986 • 319 citations

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

1973 • 247 citations

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

1982 • 238 citations

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

1987 • 238 citations

Forty four probands with an additional ?marker? chromosome

1985 • 235 citations

Genetic analysis of the proximal portion of the mouse t complex: Evidence for a second inversion within t haplotypes

1986 • 193 citations

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance

1987 • 171 citations

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.

1986 • 168 citations

Gene mapping within the T/t complex of the mouse. II. Anomalous position of the H-2 complex in t haplotypes

1982 • 160 citations

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.

1986 • 157 citations

A sex chromosome rearrangement in a human XX male caused by Alu—Alu recombination

1987 • 154 citations

Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15

1977 • 114 citations

Cytogenetic and clinical studies in five cases of inv dup(15)

1979 • 112 citations

Unusual sequences in the murine immunoglobulin μ–δ heavy-chain region

1983 • 108 citations

Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus

1984 • 106 citations

Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis

1984 • 98 citations

Prader-Willi syndrome and chromosome 15

1983 • 88 citations

Isolation and Sequence Analysis of the Human Apolipoprotein CIII Gene and the Intergenic Region between the Apo AI and Apo CIII Genes

1984 • 84 citations

Inversion in the H–2 complex of t-haplotypes in mice

1983 • 77 citations

Prader‐Willi syndrome and a bisatellited derivative of chromosome 15

1980 • 65 citations

Acrocephalopolysyndactyly type II—Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes

1987 • 65 citations

Analysis of an inversion within the human beta globin gene cluster

1985 • 62 citations

NONHOMOLOGOUS PAIRING IN MICE HETEROZYGOUS FOR A t HAPLOTYPE CAN PRODUCE RECOMBINANT CHROMOSOMES WITH DUPLICATIONS AND DELETIONS

1986 • 57 citations

[A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)].

1979 • 56 citations

Deletions of proximal 15q and non‐classical Prader‐Willi syndrome phenotypes

1985 • 53 citations

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment

1983 • 50 citations

Recurrence risk in the Angelman (“happy puppet”) syndrome

1987 • 48 citations

The Angelman (Happy Puppet) syndrome: is it autosomal recessive?

1987 • 43 citations

A girl with the Prader-Willi Syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

1980 • 43 citations

Duplication of proximal 15q as a cause of Prader‐Willi syndrome

1987 • 41 citations

Familial Prader‐Willi syndrome with apparently normal chromosomes

1987 • 38 citations

Prenatal detection of an accessory chromosome identified as an inversion duplication (15)

1981 • 38 citations

Identification of inverted duplicated #15 chromosomes using bivariate flow cytometric analysis

1985 • 35 citations

Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center

1983 • 32 citations

Proximal 15q variant with normal phenotype in three unrelated individuals

1987 • 32 citations

Deletions of proximal 15q without Prader‐Willi syndrome

1987 • 32 citations

Duplication in chromosome 15q in a boy with the Prader‐Willi syndrome; further cytogenetic confusion

1984 • 29 citations

Duplication or insertion in 15q11–13 associated with mental retardation ‐short stature and obesity ‐ Prader‐Willi or Cohen syndrome?

1984 • 28 citations

Familial Prader-Willi Syndrome

1987 • 23 citations

Proximal duplications of chromosome 15: clinical dilemmas

1986 • 14 citations

Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family

1976 • 12 citations

Single-Copy Inverted Repeats Associated with Regional Genetic Duplications in γ Fibrinogen and Immunoglobulin Genes

1984 • 10 citations