(Q34328538)

1 August 2017

title

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? (English)

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1 August 2017

12

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1 August 2017

Laura Bernardini

1

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1 August 2017

Viola Alesi

2

1 reference

1 August 2017

Sara Loddo

3

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1 August 2017

Antonio Novelli

4

1 reference

1 August 2017

Irene Bottillo

5

1 reference

1 August 2017

Agatino Battaglia

6

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1 August 2017

Maria Cristina Digilio

7

1 reference

1 August 2017

Giuseppe Zampino

8

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1 August 2017

Adam Ertel

9

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1 August 2017

Paolo Fortina

10

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1 August 2017

Saul Surrey

11

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1 August 2017

publication date

7 October 2009

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

18

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1 August 2017

issue

2

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1 August 2017

page(s)

178-185

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.154

1 August 2017

exact match

0 references

cites work

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6 July 2018

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Recurrent CNVs disrupt three candidate genes in schizophrenia patients

6 July 2018

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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

6 July 2018

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Integrated detection and population-genetic analysis of SNPs and copy number variation

6 July 2018

1 reference

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Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.

6 July 2018

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The fine-scale and complex architecture of human copy-number variation

6 July 2018

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A comparison of DNA copy number profiling platforms

6 July 2018

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

6 July 2018

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Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Guidelines for molecular karyotyping in constitutional genetic diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Mutational and selective effects on copy-number variants in the human genome

6 July 2018

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Methods and strategies for analyzing copy number variation using DNA microarrays

6 July 2018

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SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Resolving the resolution of array CGH.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

A comprehensive analysis of common copy-number variations in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Global variation in copy number in the human genome

6 July 2018

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Structural variation of the human genome

6 July 2018

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Hotspots for copy number variation in chimpanzees and humans

6 July 2018

1 reference

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Structural variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Segmental duplications and copy-number variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Molecular karyotyping using an SNP array for genomewide genotyping.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Genome architecture, rearrangements and genomic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

X-linked ichthyosis: an update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987190

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.154

The GTP-binding protein Septin 7 is critical for dendrite branching and dendritic-spine morphology

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19809473

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19809473

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.154

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference