Treacher Collins syndrome (Q24518157)

Journal of Medical Genetics

Europe PubMed Central

title

Treacher Collins syndrome (English)

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author name string

M J Dixon

series ordinal

1

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language of work or name

English

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publication date

October 1995

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published in

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volume

32

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issue

10

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page(s)

806-8

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cites work

Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

Retinoic-acid-induced limb malformations resulting from apical ectodermal ridge cell death

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051706

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS

29 November 2018

1 reference

12 December 2020

Growth inhibition and occurrence of cleft palates due to hypervitaminosis A

1 reference

12 December 2020

Effects of vitamin A on the behaviour of migratory neural crest cells in vitro

1 reference

12 December 2020

Prenatal diagnosis of mandibulofacial dysostosis

1 reference

12 December 2020

Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome)

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrence of Treacher Collins' syndrome with sonographic findings

1 reference

12 December 2020

Anatomical abnormalities in mandibulofacial dysostosis

1 reference

12 December 2020

release_3h3c5gikfrg6vcn3zfspnrn4sy

Identifiers

DOI

10.1136/JMG.32.10.806

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3h3c5gikfrg6vcn3zfspnrn4sy

24 November 2022