Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene

1993 • 715 citations

Identification of the gene responsible for Best macular dystrophy

1998 • 667 citations

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

1940 • 341 citations

The human gene mutation database

1997 • 267 citations

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

1964 • 204 citations

Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination

1999 • 171 citations

DWARFISM IN THE AMISH.

1964 • 140 citations

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

1996 • 120 citations

Molecular Genetics of Early Human Development

1997 • 76 citations

Regulation of AUF1 Expression via Conserved Alternatively Spliced Elements in the 3′ Untranslated Region

1999 • 62 citations

Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus

1997 • 52 citations

Ellis-van Creveld Syndrome

2008 • 34 citations

CHOP/GADD153 and Methionyl-tRNA Synthetase (MetRS) Genes Overlap in a Conserved Region That Controls mRNA Stability

1999 • 30 citations

Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?

1995 • 19 citations

Two cases of Ellis-van Creveld syndrome in a small island population.

1977 • 13 citations

Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish

1996 • 12 citations

Isolation and Characterization of 21 Novel Expressed DNA Sequences from the Distal Region of Human Chromosome 4p

1994 • 9 citations