Hemizygosity of δ-Catenin (CTNND2) Is Associated with Severe Mental Retardation in Cri-du-Chat Syndrome

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1997 • 71,835 citations

A catalogue of splice junction sequences

1982 • 3,861 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

A protein related to extracellular matrix proteins deleted in the mouse mutant reeler

1995 • 1,720 citations

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

1993 • 1,067 citations

doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

1998 • 1,019 citations

Targeted disruption of the cyclin-dependent kinase 5 gene results in abnormal corticogenesis, neuronal pathology and perinatal death.

1996 • 901 citations

Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia

1998 • 858 citations

Mechanism and regulation of mRNA polyadenylation

1997 • 762 citations

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

1998 • 740 citations

Mice Lacking p35, a Neuronal Specific Activator of Cdk5, Display Cortical Lamination Defects, Seizures, and Adult Lethality

1997 • 727 citations

Scrambler and yotari disrupt the disabled gene and produce a reeler -like phenotype in mice

1997 • 637 citations

The cri du chat syndrome

1978 • 307 citations

Presenilin 1 interaction in the brain with a novel member of the Armadillo family

1997 • 299 citations

δ-catenin, an Adhesive Junction–associated Protein Which Promotes Cell Scattering

1999 • 172 citations

Molecular Cloning of the Human p120ctnCatenin Gene (CTNND1): Expression of Multiple Alternatively Spliced Isoforms

1998 • 168 citations

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

1994 • 167 citations

Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns

1990 • 103 citations

Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

1995 • 101 citations

Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

1995 • 95 citations

Genomic Organization of the Human β-Catenin Gene (CTNNB1)

1996 • 93 citations

?-catenin is a nervous system-specific adherens junction protein which undergoes dynamic relocalization during development

2000 • 73 citations

Five novel genes from the cri-du-chat critical region isolated by direct selection

1995 • 56 citations

Molecular Cloning and Mapping of Human Semaphorin F from the Cri-du-chat Candidate Interval

1998 • 53 citations

Isolation of human delta-catenin and its binding specificity with presenilin 1

1999 • 49 citations

A High-Resolution Physical and Transcript Map of the Cri du Chat Region of Human Chromosome 5p

1997 • 46 citations

A fine structure physical map of the short arm of chromosome 5.

1986 • 30 citations

A Yeast Artificial Chromosome Contig of the Critical Region for Cri-du-Chat Syndrome

1994 • 29 citations

FISH analysis of terminal deletions in patients diagnosed with cri‐du‐chat syndrome

1999 • 28 citations

No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome

1999 • 24 citations

[Brain morphometry using MRI in Cri-du-Chat Syndrome. Report of seven cases with review of the literature].

1993 • 22 citations

Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome.

1993 • 18 citations

Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library.

1997 • 17 citations

Physical Mapping of Genetic Markers on the Short Arm of Chromosome 5

1994 • 13 citations