Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome (Q68716738)

From Wikidata

Jump to navigation Jump to search

scientific article published on 01 March 1990

edit

Language	Label	Description	Also known as
English	Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome	scientific article published on 01 March 1990

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

title

Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

main subject

fragile X syndrome

1 reference

based on heuristic

inferred from title

author name string

M Schmidt

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

A Certoma

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

D Du Sart

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

P Kalitsis

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

M Leversha

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

K Fowler

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

L Sheffield

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

I Jack

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

D M Danks

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

publication date

1 March 1990

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

published in

Human Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

volume

84

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

issue

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

page(s)

347-352

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

cites work

Regional localization on the human X of DNA segments cloned from flow sorted chromosomes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and cytogenetic aspects of X-chromosome deletions

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of human random cDNA clones homologous to DNA from the X chromosome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mammalian X chromosome inactivation: testing the hypothesis of transcriptional control.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a relationship between DNA methylation and DNA replication from studies of the 5-azacytidine-reactivated allocyclic X chromosome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue-specific heterogeneity in DNA replication patterns of human X chromosomes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delayed onset of replication of human X chromosomes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RFLP for linkage analysis of fragile X syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multi-allelic RFLP for M27 beta, an anonymous single copy genomic clone at Xp11.3-Xcen [HGM9 provisional no. DXS255].

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X long-arm deletions. A review of non-mosaic cases studied with banding techniques

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human thyroglobulin gene contains two 15-17 kb introns near its 3'-end

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical mapping studies on the human X chromosome in the region Xq27-Xqter

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional localization of 18 human X-linked DNA sequences

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication variants of the human inactive X chromosome. II. Frequency and replication rate relative to the other chromosomes of the complement

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenotypic effects of small, distal Xq deletions

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene action in the X-chromosome of the mouse (Mus musculus L.)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene structure of human anti-haemophilic factor IX.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human X chromosomes: Synchrony of DNA replication in diploid and triploid fibroblasts with multiple active or inactive X chromosomes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic linkage heterogeneity in the fragile X syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2307456

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00196232

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

PubMed publication ID

2307456

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2307456

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2307456%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 September 2019

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q68716738&oldid=2218606295"