(Q37460958)

20 August 2017

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title

X chromosome inactivation in clinical practice (English)

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20 August 2017

Karen Helene Orstavik

series ordinal

1

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20 August 2017

25 April 2009

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20 August 2017

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20 August 2017

126

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20 August 2017

3

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20 August 2017

363-373

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https://scigraph.springernature.com/pub.10.1007/s00439-009-0670-5

20 August 2017

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cites work

Glucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0670-5

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0670-5

Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0670-5

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0670-5

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0670-5

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0670-5

MZ female twins discordant for X-linked diseases: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0670-5

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0670-5

Heritability of X chromosome--inactivation phenotype in a large family

21 January 2018

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12 December 2020

X-inactivation patterns in carriers of X-linked myotubular myopathy.

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12 December 2020

The X chromosome and fragile X mental retardation

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12 December 2020

The dynamics of X-inactivation skewing as women age.

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12 December 2020

Hematopoiesis is not clonal in healthy elderly women.

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12 December 2020

X inactivation in females with X-linked disease.

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12 December 2020

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

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12 December 2020

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

1 reference

12 December 2020

No longer 'all-or-none'

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12 December 2020

Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

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12 December 2020

A longitudinal study of X-inactivation ratio in human females

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12 December 2020

Tissue specificity of X-chromosome inactivation patterns

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12 December 2020

Increased skewing of X chromosome inactivation with age in both blood and buccal cells.

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12 December 2020

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

1 reference

12 December 2020

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

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12 December 2020

Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita

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12 December 2020

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.

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12 December 2020

The association of skewed X chromosome inactivation with aneuploidy in humans

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12 December 2020

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

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12 December 2020

X-inactivation profile reveals extensive variability in X-linked gene expression in females

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12 December 2020

Comparison of X-chromosome inactivation patterns in multiple tissues from human females

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12 December 2020

The X chromosome and the female survival advantage: an example of the intersection between genetics, epidemiology and demography.

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12 December 2020

Assessment of mechanism of acquired skewed X inactivation by analysis of twins

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12 December 2020

Acquired skewing of X-chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age.

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12 December 2020

Why females are mosaics, X-chromosome inactivation, and sex differences in disease

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12 December 2020

Wiskott-Aldrich syndrome in a female

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12 December 2020

Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation?

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12 December 2020

X-chromosome inactivation and skin disease.

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12 December 2020

Carrier identification in X-linked immunodeficiency diseases.

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12 December 2020

Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion

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12 December 2020

Skewed X inactivation in healthy individuals and in different diseases

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12 December 2020

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

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12 December 2020

Ring X and other structural X chromosome abnormalities: X inactivation and phenotype

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12 December 2020

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

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12 December 2020

Glucose 6-phosphate dehydrogenase (G6PD) deficiency in elderly Chinese women heterozygous for G6PD variants

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12 December 2020

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

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12 December 2020

Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning

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12 December 2020

Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies.

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12 December 2020

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B

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12 December 2020

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

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12 December 2020

Carrier detection in the Wiskott Aldrich syndrome

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12 December 2020

Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion

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12 December 2020

X-chromosome inactivation and human genetic disease

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12 December 2020

The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases.

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12 December 2020

X chromosome inactivation in carriers of Barth syndrome

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12 December 2020

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

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12 December 2020

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

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12 December 2020

Skewed X inactivation and recurrent spontaneous abortion

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12 December 2020

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

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12 December 2020

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

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12 December 2020

Mental status of females with an FMR1 gene full mutation

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12 December 2020

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation

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12 December 2020

Twin study of genetic and aging effects on X chromosome inactivation

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12 December 2020

Very mild cases of Rett syndrome with skewed X inactivation

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12 December 2020

X-inactivation and human disease: X-linked dominant male-lethal disorders

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12 December 2020

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

1 reference

12 December 2020

Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations.

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12 December 2020

Commitment to X inactivation precedes the twinning event in monochorionic MZ twins.

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12 December 2020

The story of Rett syndrome: from clinic to neurobiology

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12 December 2020

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

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12 December 2020

Do twin Lyons have larger spots?

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12 December 2020

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

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12 December 2020

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

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12 December 2020

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

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12 December 2020

Skewed X inactivation in X-linked disorders

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12 December 2020

Fabry's disease: heterozygous form of different expression in two monozygous twin sisters

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12 December 2020

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

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12 December 2020

Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses

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12 December 2020

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

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12 December 2020

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency

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12 December 2020

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12

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12 December 2020

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

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12 December 2020

A skewed view of X chromosome inactivation

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12 December 2020

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

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12 December 2020

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

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12 December 2020

X-linked Wiskott-Aldrich syndrome in a girl

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12 December 2020

Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation

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12 December 2020

A first-generation X-inactivation profile of the human X chromosome

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12 December 2020

Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

1 reference

12 December 2020

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy.

1 reference

12 December 2020

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis

1 reference

12 December 2020

Genomic imprinting, monozygous twinning, and X inactivation

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12 December 2020

A defect in hematopoietic stem cell migration explains the nonrandom X-chromosome inactivation in carriers of Wiskott-Aldrich syndrome

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12 December 2020

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

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12 December 2020

Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear

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12 December 2020

X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group

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12 December 2020

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females

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12 December 2020

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

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12 December 2020

Key clinical features to identify girls with CDKL5 mutations

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12 December 2020

X-chromosome inactivation: role in skin disease expression

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12 December 2020

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

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12 December 2020

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

1 reference

12 December 2020

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

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12 December 2020

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

1 reference

12 December 2020

Duchenne muscular dystrophy in one of monozygotic twin girls

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12 December 2020

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

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12 December 2020

X-linked genetic factors regulate hematopoietic stem-cell kinetics in females.

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12 December 2020

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

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12 December 2020

Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation

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12 December 2020

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

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12 December 2020

Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.

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12 December 2020

X Inactivation in Females with X-Linked Disease

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12 December 2020

10.1007/S00439-009-0670-5

Identifiers

DOI

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20 August 2017

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PubMed ID

19396465