Chromosome imbalance, normal phenotype, and imprinting (Q33598155)

28 July 2017

1 reference

title

Chromosome imbalance, normal phenotype, and imprinting (English)

1 reference

28 July 2017

Bortotto L

1

1 reference

28 July 2017

Piovan E

2

1 reference

28 July 2017

Furlan R

3

1 reference

28 July 2017

Rivera H

4

1 reference

28 July 2017

Zuffardi O

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 September 1990

1 reference

Journal of Medical Genetics

28 July 2017

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28 July 2017

27

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28 July 2017

9

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28 July 2017

582-587

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Familial Retinoblastoma and Chromosome 13 Deletion Transmitted via an Insertional Translocation

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Aspects of evaluation, significance, and evolution of human C-band heteromorphism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Incidence and significance of supernumerary marker chromosomes in prenatal diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Human Chromosomal Heteromorphisms: Nature and Clinical Significance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

An unusual variant chromosome 9 with an extra C-negative, G-dark segment in the short arm.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Forty four probands with an additional "marker" chromosome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Is Angelman syndrome an alternate result of del(15)(q11q13)?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Deletions of proximal 15q without Prader-Willi 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=1017222

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Proximal 15q variant with normal phenotype in three unrelated individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

The association of Angelman's syndrome with deletions within 15q11-13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Genomic imprinting and genetic disorders in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Chromosome maps of man and mouse. IV.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Mammalian chromosome banding--an expression of genome organization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Sibs with tetrasomy 18p born to a mother with trisomy 18p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Origin of a small metacentric chromosome: Familial and cytogenetic evidence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017222

Prenatal detection of an accessory chromosome identified as an inversion duplication (15)

21 June 2018

1 reference

12 December 2020

Two unusual G-band variants of the short arm of chromosome 9

1 reference

12 December 2020

Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D

1 reference

12 December 2020

The genetic significance of accessory bisatellited marker chromosomes

1 reference

12 December 2020

A rare non-heterochromatic 9p+ variant in two amniotic fluid cell cultures

1 reference

12 December 2020

Deletion of band 13q21 is compatible with normal phenotype

1 reference

12 December 2020

[Small supernumerary chromosomes]

1 reference

12 December 2020

A new variant of chromosome 16

1 reference

12 December 2020

Parental origin effects in mice

1 reference

12 December 2020

Second Annual Prader-Willi Syndrome Scientific Conference. Houston, June 17, 1987. Proceedings and abstracts

1 reference

12 December 2020

An unusual variant of chromosome 16. Two new cases

1 reference

12 December 2020

A G-band study of chromosomes in liveborn infants

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.27.9.582

1 reference

28 July 2017

1 reference

28 July 2017

1 reference