Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons (Q30827417)

26 June 2017

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons (English)

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Xavier Estivill i Pallejà

26 June 2017

6

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26 June 2017

Marga Nadal

2

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author name string

Miguel Angel Pujana

1

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26 June 2017

Miriam Guitart

3

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26 June 2017

Lluís Armengol

4

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26 June 2017

Mònica Gratacòs

5

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26 June 2017

1 January 2002

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European Journal of Human Genetics

26 June 2017

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26 June 2017

10

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26 June 2017

1

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26 June 2017

26-35

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

26 June 2017

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Intrachromosomal triplication of 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Report of the fourth international workshop on human chromosome 15 mapping 1997.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Basic local alignment search tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Masquerading repeats: paralogous pitfalls of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Frequent human genomic DNA transduction driven by LINE-1 retrotransposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

The genomic record of Humankind's evolutionary roots

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

The Sequence of the Human Genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200760

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200760

1 reference

26 June 2017

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