(Q30168524)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

Xavier Estivill i Pallejà

3 November 2019

author

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M A Pujana

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M Gratacòs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

K Csiszar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

R González-Sarmiento

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

L Sumoy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 January 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

98-111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

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

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Physical linkage of the lysyl oxidase-like (LOXL1) gene to the PML gene on human chromosome 15q22.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

De novo direct duplication of 15q15-->q24 in a newborn boy with mild manifestations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Human genome anatomy: BACs integrating the genetic and cytogenetic maps for bridging genome and biomedicine.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Localization of mariner DNA transposons in the human genome by PRINS

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Towards a molecular understanding of Prader-Willi and Angelman syndromes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A common molecular basis for rearrangement disorders on chromosome 22q11

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

An improved approach for construction of bacterial artificial chromosome libraries.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Masquerading repeats: paralogous pitfalls of the human genome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Direct hybridization of large-insert genomic clones on high-density gridded cDNA filter arrays

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Construction and characterization of a human bacterial artificial chromosome library

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Intrachromosomal triplication of 15q11-q13.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Inv dup(15) supernumerary marker chromosomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A simple method for estimating evolutionary rates of base substitutions through comparative studies of nucleotide sequences

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Basic local alignment search tool

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Duplication of medial 15q confirmed by FISH.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

CAGGG repeats and the pericentromeric duplication of the hominoid genome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311040

A routine method for the establishment of permanent growing lymphoblastoid cell lines

26 November 2018

1 reference

12 December 2020

Characterization of NIGMS human/rodent somatic cell hybrid mapping panel 2 by PCR

1 reference

12 December 2020

The PML gene is linked to a megabase-scale insertion/deletion restriction fragment length polymorphism

1 reference

12 December 2020

Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1.

1 reference

12 December 2020

A radiation hybrid map of the human genome

1 reference

12 December 2020

The human lysyl oxidase-like gene maps between STS markers D15S215 and GHLC.GCT7C09 on chromosome 15

1 reference

12 December 2020

Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo)

1 reference

12 December 2020

Jumping translocation with partial duplications and triplications of chromosomes 7 and 15

1 reference

12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.155601

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

11156619

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11156619%20AND%20SRC:MED&resulttype=core&format=json