X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. (Q35238594)

7 August 2017

title

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. (English)

1 reference

7 August 2017

Lagerström-Fermér M

1

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7 August 2017

Sundvall M

2

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7 August 2017

Johnsen E

3

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7 August 2017

Warne GL

4

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7 August 2017

Forrest SM

5

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7 August 2017

Zajac JD

6

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7 August 2017

Rickards A

7

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7 August 2017

Ravine D

8

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7 August 2017

Landegren U

9

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7 August 2017

Pettersson U

10

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7 August 2017

language of work or name

English

0 references

publication date

1 April 1997

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

60

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7 August 2017

issue

4

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7 August 2017

page(s)

910-916

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The GDB human genome data base anno 1993

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=1712462

Characterization of microsatellite polymorphisms DXS691 and DXS692: genetic mapping to Xq26.2-Xq27 and Xq25-Xq26.2.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Faster sequential genetic linkage computations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Use of a radiation-reduced hybrid panel for the localization of seven markers in the Xq28 region of the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Integration of gene maps: chromosome X

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Genetic forms of pituitary dwarfism.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Five polymorphic microsatellite VNTRs on the human 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=1712462

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Dinucleotide repeat polymorphism at the MAOA locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Tetranucleotide repeat polymorphism at the HPRT locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Dinucleotide repeat polymorphism at the DXYS1X locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Genetic and physical mapping around the properdin P gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Dinucleotide repeat polymorphism at the DXS441 locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Trinucleotide repeat polymorphism in the androgen receptor gene (AR).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Pit-1-dependent expression of the receptor for growth hormone releasing factor mediates pituitary cell growth

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Detection of specific sequences among DNA fragments separated by gel electrophoresis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

HEREDITARY PITUITARY DWARFISM TREATED WITH HUMAN GROWTH HORMONE.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

Dinucleotide repeat polymorphism at Xq26.1 (DXS1114).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712462

X-linked recessive hypopituitarism

26 September 2018

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Highly polymorphic (GT)n repeat sequence in intron II of the human MAOB gene

1 reference

12 December 2020

Dinucleotide repeat polymorphisms at the DXS365, DXS443 and DXS451 loci

1 reference

12 December 2020

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Identifiers

PMC publication ID

1712462

1 reference

7 August 2017

1 reference