Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations (Q35889263)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023855%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

review article

1 reference

title

Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023855%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

0 references

1 reference

D J Wolff

1

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23 October 2019

C J Brown

2

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23 October 2019

S Schwartz

3

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23 October 2019

A M Duncan

4

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23 October 2019

U Surti

5

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23 October 2019

H F Willard

6

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23 October 2019

language of work or name

English

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publication date

1 July 1994

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American Journal of Human Genetics

23 October 2019

published in

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23 October 2019

volume

55

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23 October 2019

issue

1

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23 October 2019

page(s)

87-95

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Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation

23 October 2019

cites work

1 reference

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2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

27 July 2018

1 reference

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Three patients with ring (X) chromosomes and a severe phenotype

27 July 2018

1 reference

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Duplicated zinc finger protein genes on the proximal short arm of the human X chromosome: isolation, characterization and X-inactivation studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions

27 July 2018

1 reference

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X chromosome constitution and the human female phenotype

27 July 2018

1 reference

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Study of two cases of ring 13 chromosome using high-resolution banding

27 July 2018

1 reference

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Comparative studies of infants with mosaic and complete triploidy: an analysis of 55 cases.

27 July 2018

1 reference

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DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I.X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics

27 July 2018

1 reference

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Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.

27 July 2018

1 reference

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Forty four probands with an additional "marker" chromosome.

27 July 2018

1 reference

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Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes

27 July 2018

1 reference

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45X/46X,r(X) with syndactyly and severe mental retardation.

27 July 2018

1 reference

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Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Yeast artificial chromosome libraries containing large inserts from mouse and human DNA

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Characterization of a murine gene expressed from the inactive X chromosome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Mental retardation in Turner syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Localization of the X inactivation centre on the human X chromosome in Xq13.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report of a case

27 July 2018

1 reference

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45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Cytogenetic findings in 125 patients with Turner's syndrome and abnormal karyotypes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Position of the human X inactivation center on Xq

27 July 2018

1 reference

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Late-replicating ring X-chromosomes identified by R-banding after BrdU pulse. Three new examples of mosaicism 45, XO/46, Xr(X).

27 July 2018

1 reference

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A SEX CHROMATIN NEGATIVE INDIVIDUAL WITH CHROMOSOMES (XO) PLUS A PERSISTENT CENTRIC FRAGMENT.

27 July 2018

1 reference

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Report and abstracts of the Fourth International Workshop on Human X Chromosome Mapping 1993. St. Louis, Missouri, May 9-12, 1993.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

X-inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918222

Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis

24 September 2018

1 reference

12 December 2020

Mental retardation in Turner's syndrome

1 reference

12 December 2020

Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes

1 reference

12 December 2020

Abnormal X chromosomes in man: Origin, behavior and effects

1 reference

12 December 2020

G-11 staining in Turner's syndrome with mos 45,X/46,X,r(?)

1 reference

12 December 2020

Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

1 reference

12 December 2020

Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma

1 reference

12 December 2020

A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique

1 reference

12 December 2020

Recognition of a chromosome truncation site associated with α-thalassaemia by human telomerase

1 reference

12 December 2020

Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome

1 reference

12 December 2020

Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes

1 reference

12 December 2020

Identification of the origin of ring/marker chromosomes in patients with Ullrich-Turner syndrome using X and Y specific alpha satellite DNA probes

1 reference

12 December 2020

Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST

1 reference

12 December 2020

Lack of X inactivation: loss of one X inactivation center in a case with mos45,X,-21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2)

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023855%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference