(Q33675389)

28 July 2017

title

The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27. (English)

1 reference

28 July 2017

1 reference

Veenema H

1

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28 July 2017

Carpenter NJ

2

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28 July 2017

Bakker E

3

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28 July 2017

Hofker MH

4

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28 July 2017

Ward AM

5

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28 July 2017

Pearson PL

6

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28 July 2017

language of work or name

English

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publication date

1 July 1987

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

24

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28 July 2017

issue

7

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28 July 2017

page(s)

413-421

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Easy calculations of lod scores and genetic risks on small computers

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=1050149

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Linkage and recombination between fragile X-linked mental retardation and the factor IX gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

The fragile X syndrome in a large family. II. Psychological investigations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Haemophilia A: two recombinations detected with probe St14.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Linked and intragenic probes for haemophilia A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

Recombination between factor VIII:C gene and St14 locus.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050149

On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression

30 October 2018

1 reference

12 December 2020

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

1 reference

12 December 2020

Genetic linkage heterogeneity in the fragile X syndrome

1 reference

12 December 2020

DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity

1 reference

12 December 2020

An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis

1 reference

12 December 2020

Identifiers

PMC publication ID

1050149

1 reference

28 July 2017

1 reference