(Q77986277)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

author name string

Kerstin Kutsche

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Bernadette Ressler

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Heide-Gertrude Katzera

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Ulrike Orth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Gabriele Gillessen-Kaesbach

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Susanne Morlot

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Eberhard Schwinger

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Andreas Gal

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

publication date

1 May 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

526-535

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Alu repeats and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Segmental duplications: an 'expanding' role in genomic instability and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

The 32.6 kb Indian delta beta-thalassaemia deletion ends in a 3.4 kb L1 element downstream of the beta-globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Structure of chromosomal duplicons and their role in mediating human genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Sequences of junction fragments in the deletion-prone region of the dystrophin gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Special sites in generalized recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

A duplication in the L1CAM gene associated with X-linked hydrocephalus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10072

21 January 2018

Identifiers

DOI

10.1002/HUMU.10072

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11968085%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference