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Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

Frontiers in genetics, 2020-03, Vol.11, p.101-101

2020

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Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies

Cellular reprogramming, 2020-08, Vol.22 (4), p.179-188

2020

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Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing

Clinica chimica acta, 2018-01, Vol.476, p.167-172

2018

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Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series

Journal of clinical immunology, 2020-07, Vol.40 (5), p.752-762

2020

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Genome-wide association study and premature ovarian failure

Annales d'endocrinologie, 2010-05, Vol.71 (3), p.218-221

2010

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A family with Xq22.3q25 interstitial deletion and normal ovarian function

Fertility and sterility, 2011-07, Vol.96 (1), p.e29-e34

2011

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Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

Molecular cytogenetics, 2013-12, Vol.6 (1), p.62-62

2013

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Genetics of female infertility due to anomalies of the ovary and mullerian ducts

Methods in molecular biology (Clifton, N.J.), 2014, Vol.1154, p.39

Simpson, Joe Leigh

2014

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Fertility in patients with X chromosome deletions

Clinical genetics, 1982-08, Vol.22 (2), p.76-79

1982

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Clinical and cytogenetic aspects of X-chromosome deletions

Clinical genetics, 1982-01, Vol.21 (1), p.36-52

1982

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Non-mosaic isodicentric X-chromosome in a patient with secondary amenorrhea

Clinical genetics, 1987-07, Vol.32 (1), p.20-23

1987

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Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns

Clinical genetics, 1983-09, Vol.24 (3), p.180-183

1983

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A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female

Clinical genetics, 1994-02, Vol.45 (2), p.93-96

1994

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Choroideremia in interstitial deletion of the X chromosome

Ophthalmic genetics, 1986, Vol.7 (3), p.205-210

1986

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Loss of Xist RNA from the inactive X during B cell development is restored in a dynamic YY1-dependent two-step process in activated B cells

PLoS genetics, 2017-10, Vol.13 (10), p.e1007050

2017

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A TAD boundary is preserved upon deletion of the CTCF-rich Firre locus

Nature communications, 2018-04, Vol.9 (1), p.1444-11, Article 1444

2018

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Ichthyosis and hypogonadism in two brothers with deletion of the short arm of the X chromosome

Hormone research, 1988, Vol.30 (4-5), p.173-177

1988

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Association of the X chromosomal region q11→22 and Klinefelter syndrome

Clinical genetics, 1981-05, Vol.19 (5), p.343-346

1981

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Unraveling the role of Xist in X chromosome inactivation: insights from rabbit model and deletion analysis of exons and repeat A

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.156-156, Article 156

2024

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Xist Deletional Analysis Reveals an Interdependency between Xist RNA and Polycomb Complexes for Spreading along the Inactive X

Molecular cell, 2019-04, Vol.74 (1), p.101-117.e10

2019

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Xist RNA repeat E is essential for ASH2L recruitment to the inactive X and regulates histone modifications and escape gene expression

PLoS genetics, 2017-07, Vol.13 (7), p.e1006890-e1006890

2017

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X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2017-11, Vol.372 (1733), p.20160359

2017

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The dose-dependence of X-chromosome loss induced by x-rays in mature oocytes of Drosophila melanogaster

Mutation research, 1969-05, Vol.7 (3), p.471

1969

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Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63628-n/a

2024

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Revisiting the consequences of deleting the X inactivation center

Proceedings of the National Academy of Sciences - PNAS, 2021-06, Vol.118 (25), p.1-8

2021

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Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies

Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing

Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series

Genome-wide association study and premature ovarian failure

A family with Xq22.3q25 interstitial deletion and normal ovarian function

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

Genetics of female infertility due to anomalies of the ovary and mullerian ducts

Fertility in patients with X chromosome deletions

Clinical and cytogenetic aspects of X-chromosome deletions

Non-mosaic isodicentric X-chromosome in a patient with secondary amenorrhea

Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns

A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female

Choroideremia in interstitial deletion of the X chromosome

Loss of Xist RNA from the inactive X during B cell development is restored in a dynamic YY1-dependent two-step process in activated B cells

A TAD boundary is preserved upon deletion of the CTCF-rich Firre locus

Ichthyosis and hypogonadism in two brothers with deletion of the short arm of the X chromosome

Association of the X chromosomal region q11→22 and Klinefelter syndrome

Unraveling the role of Xist in X chromosome inactivation: insights from rabbit model and deletion analysis of exons and repeat A

Xist Deletional Analysis Reveals an Interdependency between Xist RNA and Polycomb Complexes for Spreading along the Inactive X

Xist RNA repeat E is essential for ASH2L recruitment to the inactive X and regulates histone modifications and escape gene expression

X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre

The dose-dependence of X-chromosome loss induced by x-rays in mature oocytes of Drosophila melanogaster

Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome

Revisiting the consequences of deleting the X inactivation center

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