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

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

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

1991 • 897 citations

Contact and adhesive specificities in the associations, migrations, and targeting of cells and axons

1992 • 895 citations

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

1991 • 850 citations

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

1992 • 692 citations

[16] Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project

1990 • 689 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

Segmental origin and migration of neural crest cells in the hindbrain region of the chick embryo

1991 • 635 citations

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1983 • 627 citations

The human PAX6 gene is mutated in two patients with aniridia

1992 • 565 citations

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

1992 • 470 citations

Vital dye analysis of cranial neural crest cell migration in the mouse embryo

1992 • 470 citations

Pax: A murine multigene family of paired box-containing genes

1991 • 427 citations

Pax in development

1992 • 402 citations

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1986 • 249 citations

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

1992 • 223 citations

Small eye (Sey): a mouse model for the genetic analysis of craniofacial abnormalities

1988 • 182 citations

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.

1988 • 143 citations

A Mouse Model of the Aniridia-Wilms Tumor Deletion Syndrome

1990 • 136 citations

Analysis of cranial neural crest cell migration and early fates in postimplantation rat chimaeras

1986 • 132 citations

Migration of cranial neural crest cells to the pharyngeal arches and heart in rat embryos

1992 • 120 citations

Molecular Mechanism of Growth Hormone (GH) Deficiency in the Spontaneous Dwarf Rat: Detection of Abnormal Splicing of GH Messenger Ribonucleic Acid by the Polymerase Chain Reaction*

1990 • 104 citations

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

1985 • 84 citations

Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.

1983 • 80 citations

N-CAM alterations in splotch neural tube defect mouse embryos

1991 • 79 citations

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.

1990 • 72 citations

A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing

1987 • 71 citations

Genetic cause of a Juvenile Form of Sandhoff Disease

1989 • 63 citations

Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins.

1992 • 56 citations

Spatial and temporal expression pattern of retinoic acid receptor genes during mouse bone development

1989 • 41 citations

Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.

1990 • 30 citations

Distribution of F-actin during mouse facial morphogenesis and its perturbation with cytochalasin D using whole embryo culture.

1992 • 10 citations