PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

PCR protocols — A guide to methods and applications

1990 • 12,897 citations

Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells.

1982 • 8,069 citations

Pax-6, a murine paired box gene, is expressed in the developing CNS

1991 • 1,226 citations

Mouse Small eye results from mutations in a paired-like homeobox-containing gene

1991 • 1,124 citations

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

1992 • 1,089 citations

The CpG dinucleotide and human genetic disease

1988 • 946 citations

Deletion analysis of GAL4 defines two transcriptional activating segments

1987 • 898 citations

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

1991 • 850 citations

The proline-rich transcriptional activator of CTF/NF-I is distinct from the replication and DNA binding domain

1989 • 781 citations

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1992 • 692 citations

Transcription activation by the adenovirus E1a protein

1989 • 667 citations

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1991 • 664 citations

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

1992 • 643 citations

Roles of Pax-genes in developing and adult brain as suggested by expression patterns

1994 • 582 citations

The human PAX6 gene is mutated in two patients with aniridia

1992 • 565 citations

SAMPLE PREPARATION FROM PARAFFIN-EMBEDDED TISSUES

1990 • 565 citations

Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis.

1992 • 536 citations

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

1992 • 470 citations

Aniridia. A review

1984 • 406 citations

DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site.

1993 • 391 citations

Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes.

1994 • 364 citations

Small eyes (Sey) : a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse

1986 • 344 citations

Evolution and role of Pax genes

1993 • 337 citations

Binding affinities and cooperative interactions with bHLH activators delimit threshold responses to the dorsal gradient morphogen

1993 • 322 citations

A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells

1993 • 309 citations

Defects of neuronal migration and the pathogenesis of cortical malformations

1988 • 307 citations

Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters.

1992 • 298 citations

The molecular basis of the undulated/Pax-1 mutation

1991 • 273 citations

Dissection of functional domains of the pituitary-specific transcription factor GHF-1

1989 • 252 citations

The Generation of Neuronal Diversity in the Central Nervous System

1991 • 237 citations

Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus

1993 • 200 citations

Pax: Gene regulators in the developing nervous system

1993 • 195 citations

PAX6 mutations in aniridia

1993 • 173 citations

A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae

1993 • 170 citations

Kidney and Retinal Defects (Krd), a Transgene-Induced Mutation with a Deletion of Mouse Chromosome 19 That Includes the Pax2 Locus

1994 • 156 citations

Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties.

1993 • 150 citations

The paired box gene pox neuro: A determiant of poly-innervated sense organs in Drosophila

1992 • 138 citations

Evolution of distinct developmental functions of three Drosophila genes by acquisition of different cis-regulatory regions

1994 • 128 citations

Zebrafish pax[b] is involved in the formation of the midbrain–hindbrain boundary

1992 • 127 citations

Characterization of Quail Pax-6 (Pax-QNR) Proteins Expressed in the Neuroretina

1993 • 105 citations

Corneal Changes in Aniridia

1979 • 98 citations

Congenital Aniridia: A Histopathologic study of the Anterior Segment in Children

1983 • 95 citations

Quail Pax-6 (Pax-QNR) encodes a transcription factor able to bind and trans-activate its own promoter.

1993 • 92 citations

Variable Expressivity in Autosomal Dominant Aniridia by Clinical, Electrophysiologic, and Angiographic Criteria

1980 • 66 citations

Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene

1992 • 66 citations

Horizontal compartmentation in the germinal matrices and intermediate zone of the embryonic rat cerebral cortex

1990 • 65 citations

Characterization of quail Pax-6 (Pax-QNR) proteins expressed in the neuroretina.

1993 • 59 citations

Murine Pax-2 Protein Is a Sequence-SpecificTrans-Activator with Expression in the Genital System

1993 • 58 citations

A probable case of the homozygous condition of the aniridia gene.

1980 • 47 citations