(Q41724633)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062444%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

The use of array-CGH in a cohort of Greek children with developmental delay (English)

1 reference

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16 January 2020

2

1 reference

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16 January 2020

Sandro Orru

12

1 reference

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16 January 2020

author name string

Emmanouil Manolakos

1

1 reference

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16 January 2020

Konstantinos Kefalas

3

1 reference

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16 January 2020

Stamatia-Maria Rapti

4

1 reference

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16 January 2020

Eirini Louizou

5

1 reference

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16 January 2020

Antonios Garas

6

1 reference

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16 January 2020

George Kitsos

7

1 reference

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16 January 2020

Lefteris Vasileiadis

8

1 reference

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16 January 2020

Panagiota Tsoplou

9

1 reference

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16 January 2020

Makarios Eleftheriades

10

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16 January 2020

Panagiotis Peitsidis

11

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16 January 2020

Thomas Liehr

13

1 reference

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16 January 2020

Michael B Petersen

14

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16 January 2020

Loretta Thomaidis

15

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16 January 2020

publication date

9 November 2010

1 reference

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16 January 2020

published in

Molecular Cytogenetics

1 reference

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16 January 2020

volume

3

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16 January 2020

page(s)

22

1 reference

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

16 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Partial proximal 10q trisomy: a new case associated with biliary atresia.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Global variation in copy number in the human genome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Segmental duplications and copy-number variation in the human genome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Large-scale copy number polymorphism in the human genome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Telomeres: a diagnosis at the end of the chromosomes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Partial proximal trisomy 10q syndrome: a new case.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Subtle chromosomal rearrangements in children with unexplained mental retardation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Further delineation of the partial proximal trisomy 10q syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

A new case of proximal 10q partial trisomy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Understanding variable expressivity in microdeletion syndromes.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Proximal 10q trisomy: a new case with anal atresia

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

2q31.2q32.3 deletion syndrome: report of an adult patient

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987877

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

3 November 2018

1 reference

12 December 2020

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

1 reference

12 December 2020

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation

1 reference

12 December 2020

Precise mapping of a de novo duplication 18(q21-->q22) utilizing cytogenetic, biochemical, and molecular techniques

1 reference

12 December 2020

Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity

1 reference

12 December 2020

Identifiers

DOI

10.1186/1755-8166-3-22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062444%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062444%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

21062444

1 reference