(Q34724909)

English

Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 August 2017

Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22. (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

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author name string

R D Burnside

1

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

J Ibrahim

2

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

C Flora

3

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

S Schwartz

4

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

J H Tepperberg

5

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

P R Papenhausen

6

1 reference

Europe PubMed Central

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4 August 2017

P E Warburton

7

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Europe PubMed Central

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4 August 2017

language of work or name

1 reference

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publication date

6 January 2011

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4 August 2017

Cytogenetics and Genome Research

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Europe PubMed Central

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4 August 2017

132

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

4

1 reference

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4 August 2017

227-232

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

First case of a neocentromere formation in an otherwise normal chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

The life and miracles of kinetochores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Recurrent sites for new centromere seeding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Centric fission--simple and complex mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Chromosomal dynamics of human neocentromere formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Human centromere repositioning "in progress"

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Interstitial deletion of the long arm of chromosome 8 without Langer-Giedion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Interstitial deletion and ring chromosome derived from 16q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3064936

7 July 2018

Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere

1 reference

https://api.crossref.org/works/10.1159%2F000322815

21 January 2018

Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centric fission of chromosome 7 with 47,XX,del(7)(pter----cen::q21----qter)+cen fr karyotype in a mother and proximal 7q deletion in two malformed newborns

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1159/000322815

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

ResearchGate publication ID

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