(Q34441884)

2 August 2017

title

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome (English)

1 reference

2 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

genetic recombination

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

repetitive DNA

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

multigene family

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

author name string

K. S. Chen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

P. Manian

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

T. Koeuth

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

L. Potocki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

Q. Zhao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

A. C. Chinault

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

C. C. Lee

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

J. R. Lupski

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326934

19 November 2024

language of work or name

English

0 references

publication date

1 October 1997

1 reference

2 August 2017

October 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9326934

full work available at URL

19 November 2024

http://www.nature.com/articles/ng1097-154

1 reference

http://www.nature.com/articles/ng1097-154.pdf

19 November 2024

file format

Portable Document Format

1 reference

19 November 2024

1 reference

2 August 2017

volume

17

1 reference

2 August 2017

issue

2

1 reference

2 August 2017

page(s)

154-163

1 reference

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Mapping the whole human genome by fingerprinting yeast artificial chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

The 68 kDa protein of signal recognition particle contains a glycine-rich region also found in certain RNA-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

cDNA clones contain autonomous replication activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

High-resolution deletion mapping of chromosome arm 17p in childhood primitive neuroectodermal tumors reveals a common chromosomal disruption within the Smith-Magenis region, an unstable region in chromosome band 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

The molecular genetics of human hemoglobins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Basic local alignment search tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

High efficiency vectors for cosmid microcloning and genomic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

The 1993-94 Généthon human genetic linkage map

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

A second-generation linkage map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Structural plasmid instability in Bacillus subtilis: effect of direct and inverted repeats

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Deletion formation in bacteriophage T4.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Coactosin, a 17 kDa F-actin binding protein from Dictyostelium discoideum

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Molecular genetics of inherited variation in human color vision

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Homozygous hereditary C3 deficiency due to a partial gene deletion

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Left-handed DNA and the synaptic pairing reaction promoted by Ustilago rec1 protein

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Isolation of single-copy human genes from a library of yeast artificial chromosome clones

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Yeast artificial chromosome cloning of a two-megabase-size contig within chromosomal band 18q21 establishes physical linkage between BCL2 and plasminogen activator inhibitor type-2.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Human genetic map. Genome maps V. Wall chart

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-154

7 January 2021

Isolation and characterization of Escherichia coli mutants with altered rates of deletion formation

4

1 reference

19 November 2024

Human Molecular Genetics

26

8

1373

CC Lee

1995

1 reference

19 November 2024

Identifiers

DOI

10.1038/NG1097-154

1 reference

Dimensions Publication ID

2 August 2017

1001062922

0 references

1 reference