(Q33673572)

28 July 2017

title

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development (English)

1 reference

28 July 2017

7

B Dallapiccola

1 reference

28 July 2017

M C Digilio

1

1 reference

28 July 2017

A Giannotti

2

1 reference

28 July 2017

G Floridia

3

1 reference

28 July 2017

F Uccellatore

4

1 reference

28 July 2017

R Mingarelli

5

1 reference

28 July 2017

C Danesino

6

1 reference

28 July 2017

O Zuffardi

8

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 March 1994

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

31

1 reference

28 July 2017

issue

3

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28 July 2017

page(s)

238-241

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

28 July 2017

1 reference

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Secondary trisomy or mosaic "tetrasomy" 8p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Agenesis of the corpus callosum: clinical, neuroradiological and cytogenetic studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Distal 8p deletion (8p23.1----8pter): a common deletion?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Trisomy 8p: unusual origin detected by fluorescence in situ hybridization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Two cases of 8p trisomy in one sibship

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Trisomy 8: an international study of 70 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism 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=1049750

Complete and partial trisomy of different segments of chromosome 8: case reports and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Report of a trisomy 8p infant with carrier father

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

Chromosome 8 : complete trisomy and segmental trisomies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049750

A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence

21 June 2018

1 reference

12 December 2020

Ordering of Y-specific sequences by deletion mapping and analysis of X-Y interchange males and females

1 reference

12 December 2020

Localization of the 68,000-Da human neurofilament gene (NF68) using a murine cDNA probe

1 reference

12 December 2020

Prenatal diagnosis of a partial 8p trisomy

1 reference

12 December 2020

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

1 reference

12 December 2020

Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8)

1 reference

12 December 2020

Characterization of a human chromosome 8 cosmid library constructed from flow-sorted chromosomes

1 reference

12 December 2020

Duplication 8p syndrome: studies in a family with a reciprocal translocation between chromosomes 8 and 12

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.3.238

1 reference

28 July 2017

1 reference

28 July 2017

1 reference