(Q33845402)

English

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

scientific article published on 2 May 2014

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886451%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

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New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886451%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1

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19 March 2020

Ilaria Bestetti

2

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19 March 2020

Chiara Castronovo

4

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19 March 2020

5

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19 March 2020

10

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19 March 2020

7

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Guido Grassi

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19 March 2020

8

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Lidia Larizza

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19 March 2020

author name string

Mario Perotti

3

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19 March 2020

Chiara Picinelli

6

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Europe PubMed Central

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19 March 2020

Angela Ida Pincelli

9

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19 March 2020

publication date

2 May 2014

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19 March 2020

BMC Medical Genetics

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Europe PubMed Central

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19 March 2020

15

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19 March 2020

52

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19 March 2020

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

lincRNAs act in the circuitry controlling pluripotency and differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Mapping and analysis of chromatin state dynamics in nine human cell types

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Discovery and characterization of chromatin states for systematic annotation of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Detection of nonneutral substitution rates on mammalian phylogenies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Mapping of transcription factor binding regions in mammalian cells by ChIP: comparison of array- and sequencing-based technologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

High-throughput methods of regulatory element discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

In vivo enhancer analysis of human conserved non-coding sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4081657

5 July 2018

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-52

21 January 2018

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-52

21 January 2018

Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-52

21 January 2018

Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-52

21 January 2018

Enhancer-adoption as a mechanism of human developmental disease.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-52

21 January 2018

Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/24886451

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III

1 reference

https://pubmed.ncbi.nlm.nih.gov/24886451

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/24886451

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/24886451

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24886451

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III

1 reference

https://pubmed.ncbi.nlm.nih.gov/24886451

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/24886451

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-15-52

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886451%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886451%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24886451%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

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