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

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publication date

February 1996

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language of work or name

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

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

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

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

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Basic local alignment search tool

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Tracher Collins syndrome

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

21 January 2018

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

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

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

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Human haploinsufficiency — one for sorrow, two for joy

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

21 January 2018

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7 January 2021

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

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7 January 2021

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS

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7 January 2021

Mandibulo-facial dysostosis. (Treacher-Collins syndrome)

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Trinucleotide diseases on the rise

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

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7 January 2021

Transcriptional map of the Treacher Collins candidate gene region

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7 January 2021

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

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7 January 2021

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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7 January 2021

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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7 January 2021

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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7 January 2021

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

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7 January 2021

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

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7 January 2021

DNA sequencing with chain-terminating inhibitors

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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