FRAXF in a patient with chromosome 8 duplication (Q33677585)

28 July 2017

title

FRAXF in a patient with chromosome 8 duplication (English)

1 reference

28 July 2017

A M Vianna-Morgante

1

1 reference

28 July 2017

R C Mingroni-Netto

2

1 reference

28 July 2017

A C Barbosa

3

1 reference

28 July 2017

P A Otto

4

1 reference

28 July 2017

C Rosenberg

5

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28 July 2017

language of work or name

English

0 references

publication date

1 July 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

7

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28 July 2017

page(s)

611-614

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Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

A child with a recombinant of chromosome 8 inherited from her carrier mother

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: a survey of alphoid sequences from different human chromosomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Partial duplication 8q12----q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Familial distal trisomy 8(q24.13----qter).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Fragile X genotype characterized by an unstable region of DNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Molecular heterogeneity of the fragile X syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Fragile site Xq27.3 in a family without mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Characterisation of a new rare fragile site easily confused with the fragile X

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

Natural history of the recombinant (8) syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050674

The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8818952

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of 1q polysomy in interphase nuclei of human solid tumors with a biotinylated probe

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8818952

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.7.611

1 reference

28 July 2017

1 reference

28 July 2017

1 reference