(Q51907530)

17 April 2018

title

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. (English)

1 reference

17 April 2018

1 reference

17 April 2018

Jesús Argente

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17 April 2018

Mariano Rocchi

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17 April 2018

Sabrina Giglio

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Maria Clara Bonaglia

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Maurizio Genuardi

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Orsetta Zuffardi

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Roberto Ciccone

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17 April 2018

Giorgio Gimelli

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17 April 2018

Tiziano Pramparo

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17 April 2018

Silvana Beri

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17 April 2018

publication date

1 May 2007

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17 April 2018

published in

Human Mutation

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17 April 2018

volume

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17 April 2018

issue

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17 April 2018

page(s)

459-468

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17 April 2018

Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture

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https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

A high-resolution survey of deletion polymorphism in the human genome

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https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Widening the spectrum of human genetic variation

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https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Rapid sequence divergence in mammalian beta-defensins by adaptive evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Common deletion polymorphisms in the human genome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

DNA sequence and analysis of human chromosome 8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Inverted duplications: how many of them are mosaic?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Intrachromosomal triplication of 15q11-q13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Segmental duplications and copy-number variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

MASL1, a candidate oncogene found in amplification at 8p23.1, is translocated in immunoblastic B-cell lymphoma cell line OCI-LY8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Fine-scale structural variation of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Characterization of large chromosome markers in a malignant fibrous histiocytoma by spectral karyotyping, comparative genomic hybridization (CGH), and array CGH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20465

7 January 2021

Identifiers

DOI

10.1002/HUMU.20465

1 reference

17 April 2018

1 reference

17 April 2018