Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group (Q28273395)

Organization and expression of eucaryotic split genes coding for proteins

inferred from title

language of work or name

English

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publication date

February 1996

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published in

Nature Genetics

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volume

12

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issue

2

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page(s)

130-6

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cites work

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

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

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Older paternal age and fresh gene mutation: Data on additional disorders

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The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome).

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MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS

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Mandibulo-facial dysostosis. (Treacher-Collins syndrome)

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

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

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Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest cells.

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

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Trinucleotide diseases on the rise

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Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3

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

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Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

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Transcriptional map of the Treacher Collins candidate gene region

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Human chromosome-specific cDNA libraries: new tools for gene identification and genome annotation

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Genomic Organization of the Human Heparan Sulfate-N-Deacetylase/N-Sulfotransferase Gene: Exclusion from a Causative Role in the Pathogenesis of Treacher Collins Syndrome

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

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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

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Mild mandibulofacial dysostosis in a child with a deletion of 3p

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

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DNA sequencing with chain-terminating inhibitors

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

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

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Identifiers

DOI

10.1038/NG0296-130

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

8563749

1 reference

Consolidated OpenCitations Corpus – April 2017