Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

Mutation of human short tandem repeats

1993 • 1,584 citations

Faster sequential genetic linkage computations.

1993 • 1,378 citations

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1989 • 517 citations

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

1995 • 507 citations

Priests and Programmers: Technologies of Power in the Engineered Landscape of Bali.

1992 • 496 citations

Trembler mouse carries a point mutation in a myelin gene

1992 • 418 citations

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1997 • 385 citations

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

1996 • 319 citations

Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13

1995 • 291 citations

Priests and Programmers

2007 • 270 citations

Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

1996 • 265 citations

Analysis of the vestigial tail mutation demonstrates that Wnt-3a gene dosage regulates mouse axial development.

1996 • 248 citations

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

1995 • 222 citations

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 • 217 citations

Molecular cloning and functional expression of cDNA encoding a second class of inward rectifier potassium channels in the mouse brain.

1994 • 117 citations

The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse

1956 • 116 citations

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

1995 • 112 citations

The anomalies oe the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse

1954 • 100 citations

Identification of the gene-richest bands in human chromosomes

1996 • 91 citations

Mapping of Unconventional Myosins in Mouse and Human

1996 • 78 citations

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.

1995 • 69 citations

An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids

1992 • 61 citations

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

1995 • 50 citations

Genomic Structure, Evolution, and Expression of HumanFLII,a Gelsolin and Leucine-Rich-Repeat Family Member: Overlap withLLGL

1997 • 48 citations

Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome

1993 • 43 citations

cDNA Cloning, Tissue Distribution, and Chromosomal Localization of Ocp2, a Gene Encoding a Putative Transcription-Associated Factor Predominantly Expressed in the Auditory Organs

1995 • 42 citations

Three Members of the Nitric Oxide Synthase II Gene Family (NOS2A, NOS2B, and NOS2C) Colocalize to Human Chromosome 17

1995 • 39 citations

Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.

1995 • 37 citations

Molecular Characterization of a Genetically Unstable Region Containing the SMS Critical Area and a Breakpoint Cluster for Human PNETs

1997 • 30 citations

The Human Inward Rectifying K+Channel Kir 2.2 (KCNJ12) Gene: Gene Structure, Assignment to Chromosome 17p11.1, and Identification of a Simple Tandem Repeat Polymorphism

1997 • 24 citations

Chronic strychnine administration into the cochlea potentiates permanent threshold shift following noise exposure

1997 • 24 citations

Genetic Mapping of 21 Genes on Mouse Chromosome 11 Reveals Disruptions in Linkage Conservation with Human Chromosome 5

1997 • 23 citations

Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2–p12 by FISH and PCR screening of somatic cell hybrids

1995 • 20 citations

Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17

1990 • 20 citations

L'irradiation des testicules et l'heredite chez la Souris

1928 • 18 citations

Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12.

1990 • 18 citations

Untersuchungen Zur Genetik und Pathologie der Entwicklung von 8 Labyrinthmutanten (Deaf-Waltzer-Shaker-Mutanten) der Maus (Mus Musculus)

1960 • 17 citations

THE LOCATION OF ‘TREMBLER’ IN LINKAGE GROUP VII

1953 • 13 citations

Genetical studies with ‘Vestigial Tail’ mice II. The position of vestigial in the seventh linkage group

1955 • 10 citations

Genetic and Physical Delineation of the Region of the Mouse Deafness Mutationshaker-2

1997 • 10 citations

Human inner ear OCP2 cDNA maps to 5q22-5q35.2 with related sequences on chromosomes 4p16.2-4p14, 5p13-5q22, 7pter-q22, 10 and 12p13-12qter

1997 • 9 citations

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: Analysis of cell-cycle distribution and radiation sensitivity

1998 • 9 citations

[Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus)].

1960 • 2 citations