Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging (Q24517913)

2 July 2017

title

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging (English)

1 reference

Treacher Collins syndrome

2 July 2017

main subject

1 reference

S J Edwards

1

1 reference

2 July 2017

A Fowlie

2

1 reference

2 July 2017

M P Cust

3

1 reference

2 July 2017

D T Liu

4

1 reference

2 July 2017

I D Young

5

1 reference

2 July 2017

M J Dixon

6

1 reference

2 July 2017

language of work or name

English

0 references

publication date

1 July 1996

1 reference

Journal of Medical Genetics

2 July 2017

published in

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2 July 2017

volume

33

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2 July 2017

issue

7

1 reference

2 July 2017

page(s)

603-606

1 reference

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

2 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050672

Transcriptional map of the Treacher Collins candidate gene region

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050672

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050672

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050672

Mutation of human short tandem repeats

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050672

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050672

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=1050672

Fetoscopy and fetal tissue sampling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050672

Dinucleotide repeat polymorphism at the human c-fms proto-oncogene for the CFS-1 receptor (CFS1R)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050672

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=1050672

Genetic and radiation hybrid mapping of the hyperekplexia region 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=1050672

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=1050672

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=1050672

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=1050672

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=1050672

Prenatal diagnosis of mandibulofacial dysostosis

29 November 2018

1 reference

12 December 2020

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

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

Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome)

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.33.7.603

7 January 2021

inferred from DOI database lookup

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

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.33.7.603

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.33.7.603

1 reference

2 July 2017

0 references

1 reference