The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Improved tools for biological sequence comparison.

1988 • 11,455 citations

The scanning model for translation: an update.

1989 • 3,525 citations

Patterns of Amino Acids near Signal‐Sequence Cleavage Sites

1983 • 2,290 citations

IDENTIFYING NONPOLAR TRANSBILAYER HELICES IN AMINO ACID SEQUENCES OF MEMBRANE PROTEINS

1986 • 1,495 citations

Selection of Successive Tumour Lines for Metastasis

1973 • 1,360 citations

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1986 • 1,033 citations

The Coat Colors of Mice

1979 • 646 citations

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

1989 • 575 citations

Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2

1986 • 535 citations

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

1991 • 271 citations

The Prader-Willi syndrome: a study of 40 patients and a review of the literature.

1983 • 248 citations

The Prader-Willi Syndrome

1983 • 237 citations

Comparison of the 15q deletions in Prader‐Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1990 • 199 citations

Construction and identification of cDNA clones for mouse ribosomal proteins: Application for the study of r-protein gene expression

1980 • 187 citations

THE EFFECTS OF GENOTYPE AND CELL ENVIRONMENT ON MELANOBLAST DIFFERENTIATION IN THE HOUSE MOUSE

1956 • 173 citations

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndrome

1989 • 164 citations

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

1986 • 157 citations

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

1990 • 149 citations

Direct Molecular Identification of the Mouse Pink-Eyed Unstable Mutation by Genome Scanning

1991 • 121 citations

Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting

1990 • 120 citations

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.

1989 • 106 citations

The fine structure of melanogenesis in coat color mutants of the mouse

1973 • 93 citations

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.

1992 • 91 citations

Diagnosis of Angelman syndrome in infants

1991 • 87 citations

A QUANTITATIVE HISTOLOGICAL STUDY OF THE PIGMENT FOUND IN THE COAT-COLOR MUTANTS OF THE HOUSE MOUSE. IV. THE NATURE OF THE EFFECTS OF GENIC SUBSTITUTION IN FIVE MAJOR ALLELIC SERIES

1949 • 80 citations

Abnormalities of the Central Visual Pathways in Prader–Willi Syndrome Associated with Hypopigmentation

1986 • 80 citations

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader‐Willi syndrome

1989 • 78 citations

Molecular study of the Prader‐Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

1991 • 74 citations

Molecular basis of mouse developmental mutants.

1991 • 68 citations

Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse

1971 • 63 citations

Hypopigmentation in the Prader-Willi syndrome.

1987 • 62 citations

The GABAA receptor β3 subunit gene: Characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

1991 • 61 citations

Oculocutaneous Albinoidism as a Manifestation of Reduced Neural Crest Derivatives in the Prader-Willi Syndrome

1982 • 58 citations

Spontaneous somatic reversion in mice effects of parental genotype on stability at the π-locus

1971 • 43 citations

The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito

1992 • 37 citations

The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7

1991 • 34 citations

ENDOCRINOLOGICAL FINDINGS IN STERILE PINK-EYED MICE

1975 • 26 citations

Visual evoked potentials in Prader-Willi syndrome

1989 • 23 citations

Thep locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region

1991 • 20 citations

Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

1989 • 17 citations

Pigmented cell lines of mouse albino melanocytes containing a tyrosinase cDNA with an inducible promoter

1990 • 15 citations

The effects of mutantp-alleles on the reproductive system in mice

1974 • 9 citations

Gene expression at the pink-eyed dilution (p) locus in the mouse is confirmed to be pigment cell autonomous using recombinant embryonic skin grafts

1985 • 4 citations