(Q35194344)

7 August 2017

title

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

1 reference

7 August 2017

A T Tharapel

1

1 reference

7 August 2017

K P Anderson

2

1 reference

7 August 2017

J L Simpson

3

1 reference

7 August 2017

P R Martens

4

1 reference

7 August 2017

R S Wilroy

5

1 reference

7 August 2017

J C Llerena

6

1 reference

7 August 2017

C E Schwartz

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 March 1993

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

52

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7 August 2017

issue

3

1 reference

7 August 2017

page(s)

463-471

1 reference

Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

A highly polymorphic locus in human DNA

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

A strategy to reveal high-frequency RFLPs along the human X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Brief clinical report: del(X) (q26) in a phenotypically normal woman and her daughter who also has trisomy 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

RFLP for D4S12, an anonymous single copy genomic clone at 4pter-4q26 [HGM8 provisional no. D4S12]

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

A polymorphic locus at Xq27-28 detected by the probe U6.2 [DXS304]

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

13 July 2018

Chromosome first aid.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Minireview: cryptic translocations and telomere integrity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Partial gene duplication as a cause of human disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

The phenotypic effects of small, distal Xq deletions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682144

Fertility in patients with X chromosome deletions

27 September 2018

1 reference

12 December 2020

Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome

1 reference

12 December 2020

A new RFLP with StuI and probe cX55.7 (DXS105) and its usefulness in carrier analysis of fragile X syndrome

1 reference

12 December 2020

Premature menopause because of an inherited deletion in the long arm of the X-chromosome

1 reference

12 December 2020

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

1 reference

12 December 2020

[Normal 46,XX daughter born to a 45,X/46,X,del(X)(q25) deletion (author's transl)]

1 reference

12 December 2020

Identifiers

PMC publication ID

1682144

1 reference

7 August 2017

1 reference