(Q36973564)

English

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

scientific article published on 27 May 2004

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scholarly article

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29 December 2019

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. (English)

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29 December 2019

alternative mRNA splicing, via spliceosome

1 reference

based on heuristic

inferred from title

10

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29 December 2019

1

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29 December 2019

Pieter J Eichhorn

3

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29 December 2019

6

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29 December 2019

author name string

Melanie Smith

2

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29 December 2019

Sandie Jones

4

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29 December 2019

Burhan Imamwerdi

5

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29 December 2019

Mike Jackson

7

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29 December 2019

Tzu-Jou Wang

8

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29 December 2019

Maggie Ireland

9

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29 December 2019

Ian D Krantz

11

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29 December 2019

Philippa Carr

12

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29 December 2019

Tom Strachan

13

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29 December 2019

publication date

27 May 2004

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29 December 2019

1 reference

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29 December 2019

115

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29 December 2019

2

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29 December 2019

139-148

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29 December 2019

Low conservation of alternative splicing patterns in the human and mouse genomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

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Identification and characterisation of novel mammalian homologues of Drosophila polyhomeoticpermits new insights into relationships between members of the polyhomeotic family

1 reference

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29 September 2017

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

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29 September 2017

rVista for comparative sequence-based discovery of functional transcription factor binding sites

1 reference

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29 September 2017

Computational detection and location of transcription start sites in mammalian genomic DNA

1 reference

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29 September 2017

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

A bacterial artificial chromosome library for sequencing the complete human genome

1 reference

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29 September 2017

VISTA : visualizing global DNA sequence alignments of arbitrary length

1 reference

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29 September 2017

Active conservation of noncoding sequences revealed by three-way species comparisons

1 reference

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29 September 2017

PipMaker--a web server for aligning two genomic DNA sequences

1 reference

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29 September 2017

Extensive alternative splicing in the 5'-untranslated region of the rat and human neuropeptide Y Y5 receptor genes regulates receptor expression

1 reference

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29 September 2017

Vector-hexamer PCR isolation of all insert ends from a YAC contig of the mouse Igh locus

1 reference

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29 September 2017

A novel mammalian wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain

1 reference

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29 September 2017

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

Interpreting cDNA sequences: some insights from studies on translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

de Lange syndrome: a clinical review of 310 individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

1 reference

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29 September 2017

Brachmann-de Lange syndrome. 1994 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

The dup(3q) syndrome: report of eight cases and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894837

29 September 2017

Genetic applications of an inverse polymerase chain reaction

1 reference

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Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources

1 reference

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Basic local alignment search tool

1 reference

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A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage

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Yeast artificial chromosome libraries containing large inserts from mouse and human DNA

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29 September 2017

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome

1 reference

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29 September 2017

Continuum of overlapping clones spanning the entire human chromosome 21q.

1 reference

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29 September 2017

Autosomal dominant inheritance of Brachmann-de Lange syndrome

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Structure of membrane glutamate carboxypeptidase.

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Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region

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27 June 2018

Further delineation of the dup(3q) syndrome

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Clinical variability within Brachmann-de Lange syndrome: a proposed classification system

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Position effect in human genetic disease

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication 3q syndrome: molecular delineation of the critical region

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brachmann-de Lange syndrome. Delineation of the clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/15168106

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-004-1134-6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15168106%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15168106%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15168106%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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