Inventaire - your friends and communities are your best library

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

Published in: Nature Genetics

Date of publication: February 1996

Language: English

Main subject: pathogenesis, collaboration, Treacher Collins syndrome

Bibliographic databases:

Cites articles 35

Date

Title

Authors

August 1, 1964

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS
April 1, 1967

Mandibulo-facial dysostosis. (Treacher-Collins syndrome)
January 1975

Older paternal age and fresh gene mutation: data on additional disorders,Older paternal age and fresh gene mutation: Data on additional disorders
July 1, 1975

The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).
December 1977

DNA sequencing with chain-terminating inhibitors

, ,
1981

Organization and expression of eucaryotic split genes coding for proteins
February 1, 1981

The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome).
January 1, 1983

Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest cells
January 1, 1983

Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B
July 1, 1983

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

,
June 1, 1987

Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis
October 1990

Basic local alignment search tool

, , , ,
September 1991

Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3
September 1, 1991

Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region,Chromosomal deletion 4p15.32→p14 in a treacher collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region
February 13, 1992

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
February 13, 1992

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
July 1992

Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2
October 1, 1992

Uracil DNA glycosylase-mediated cloning of polymerase chain reaction-amplified DNA: application to genomic and cDNA cloning
October 1, 1993

Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region
November 1, 1993

Huntington's disease gene (IT15) is widely expressed in human and rat tissues
November 1, 1993

A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q

,
June 1, 1993

Mild mandibulofacial dysostosis in a child with a deletion of 3p
September 23, 1994

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping
April 1994

Tracher Collins syndrome
July 1, 1994

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
January 1, 1994

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification
May 1994

Human haploinsufficiency — one for sorrow, two for joy
August 1, 1994

Trinucleotide diseases on the rise
August 1, 1994

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

,
July 1, 1995

Isolation, characterization, and precise physical localization of human CDX1, a caudal-type homeobox gene
March 1, 1995

Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1.

,
May 1, 1995

The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees

Article -

Welcome to inventaire

The library of your friends and communities

Jsi offline