Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. (Q37014569)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18762570%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita (English)

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13 January 2020

1 reference

11

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13 January 2020

Peter E. Clayton

12

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13 January 2020

author name string

M G Shaikh

1

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13 January 2020

L Boyes

2

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13 January 2020

H Kingston

3

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13 January 2020

R Collins

4

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13 January 2020

G T N Besley

5

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13 January 2020

B Padmakumar

6

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13 January 2020

O Ismayl

7

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13 January 2020

I Hughes

8

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13 January 2020

C M Hall

9

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13 January 2020

C Hellerud

10

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13 January 2020

language of work or name

English

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publication date

1 September 2008

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Journal of Medical Genetics

13 January 2020

published in

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13 January 2020

volume

45

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13 January 2020

issue

9

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13 January 2020

page(s)

e1

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Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model

13 January 2020

cites work

1 reference

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X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

29 September 2017

1 reference

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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

29 September 2017

1 reference

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The role of SF1/DAX1 in adrenal and reproductive function

29 September 2017

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Molecular basis of adrenal insufficiency

29 September 2017

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IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.

29 September 2017

1 reference

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Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

29 September 2017

1 reference

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Protein measurement with the Folin phenol reagent

29 September 2017

1 reference

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The causes and consequences of random and non-random X chromosome inactivation in humans

29 September 2017

1 reference

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Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency

29 September 2017

1 reference

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Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation

29 September 2017

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Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency

29 September 2017

1 reference

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Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28

29 September 2017

1 reference

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2602739

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

29 September 2017

1 reference

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Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening

29 September 2017

1 reference

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Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy

29 September 2017

1 reference

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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

29 September 2017

1 reference

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

29 September 2017

1 reference

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The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

29 September 2017

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Spondyloepiphyseal dysplasia tarda in Turner syndrome

27 June 2018

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Delayed diagnosis of congenital factor IX deficiency (Christmas disease) in a girl with Turner's Syndrome

27 June 2018

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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

4 September 2018

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Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy.

4 September 2018

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Variable presentation of X-linked adrenal hypoplasia congenita.

4 September 2018

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4 September 2018

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Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.

4 September 2018

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Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

4 September 2018

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Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study

4 September 2018

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12 December 2020

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

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12 December 2020

An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency

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12 December 2020

X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females

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12 December 2020

Muscular dystrophy in young girls

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12 December 2020

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1 reference

12 December 2020

Duchenne muscular dystrophy in a 46 XY female

1 reference

12 December 2020

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2007.055129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18762570%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18762570%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference