Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). (Q33387469)

26 July 2017

title

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

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26 July 2017

2

Sandro Orru

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26 July 2017

Emmanouil Manolakos

1

1 reference

26 July 2017

Rosita Neroutsou

3

1 reference

26 July 2017

Konstantinos Kefalas

4

1 reference

26 July 2017

Eirini Louizou

5

1 reference

26 July 2017

Ioannis Papoulidis

6

1 reference

26 July 2017

Loretta Thomaidis

7

1 reference

26 July 2017

Panagiotis Peitsidis

8

1 reference

26 July 2017

Sotirios Sotiriou

9

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26 July 2017

George Kitsos

10

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26 July 2017

Panagiota Tsoplou

11

1 reference

26 July 2017

Michael B Petersen

12

1 reference

26 July 2017

Aikaterini Metaxotou

13

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26 July 2017

publication date

9 December 2009

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26 July 2017

published in

Molecular Cytogenetics

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26 July 2017

volume

2

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26 July 2017

page(s)

26

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

26 July 2017

1 reference

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Five common gene variants identify elevated genetic risk for coronary heart disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Expression of ADAMTS-8, a secreted protease with antiangiogenic properties, is downregulated in brain tumours

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Clinical and molecular characterization of patients with distal 11q deletions.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

The 11q terminal deletion disorder: a prospective study of 110 cases.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799424

A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20003197

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8166-2-26

1 reference

Dimensions Publication ID

26 July 2017

0 references

1 reference

26 July 2017

1 reference