(Q53215506)

12 May 2018

title

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. (English)

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12 May 2018

author

Roberto Giorda

1

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12 May 2018

author name string

Silvana Beri

2

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12 May 2018

M Clara Bonaglia

3

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12 May 2018

Luigina Spaccini

4

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12 May 2018

Barbara Scelsa

5

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12 May 2018

Emmanouil Manolakos

6

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12 May 2018

Erika Della Mina

7

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12 May 2018

Roberto Ciccone

8

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12 May 2018

Orsetta Zuffardi

9

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12 May 2018

language of work or name

English

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publication date

30 September 2011

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12 May 2018

American Journal of Medical Genetics

published in

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12 May 2018

volume

155A

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12 May 2018

issue

11

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12 May 2018

page(s)

2681-2687

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12 May 2018

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

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A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

21 January 2018

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Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene

21 January 2018

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Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.

21 January 2018

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A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

21 January 2018

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Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy

21 January 2018

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Mechanisms for human genomic rearrangements

21 January 2018

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A gene for familial juvenile polyposis maps to chromosome 18q21.1.

21 January 2018

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A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins

21 January 2018

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

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Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation

21 January 2018

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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

21 January 2018

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

21 January 2018

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Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect

21 January 2018

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A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH.

21 January 2018

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Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes

21 January 2018

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MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

21 January 2018

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A common sequence motif associated with recombination hot spots and genome instability in humans

21 January 2018

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Intrachromosomal triplication of distal 7p.

21 January 2018

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Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

21 January 2018

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Intrachromosomal triplication of 15q11-q13.

21 January 2018

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Intrachromosomal triplication for the distal part of chromosome 15q.

21 January 2018

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

21 January 2018

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Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

21 January 2018

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

21 January 2018

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Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34248

Inverted duplications deletions: underdiagnosed rearrangements??

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34248

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34248

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34248

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34248

1 reference

12 May 2018

1 reference

12 May 2018