Literature DB >> 10636734

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

K H Orstavik, R E Orstavik, M Schwartz.   

Abstract

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Year:  1999        PMID： 10636734      PMCID： PMC1734254     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

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

Authors:  James M Amos-Landgraf; Amy Cottle; Robert M Plenge; Mike Friez; Charles E Schwartz; John Longshore; Huntington F Willard
Journal:  Am J Hum Genet       Date:  2006-07-27       Impact factor: 11.025

Review 2.  X chromosome inactivation in clinical practice.

Authors:  Karen Helene Orstavik
Journal:  Hum Genet       Date:  2009-04-25       Impact factor: 4.132

3.  Skewed X inactivation in Lesch-Nyhan disease carrier females.

Authors:  Rosa J Torres; Juan G Puig
Journal:  J Hum Genet       Date:  2017-09-14       Impact factor: 3.172

Review 4.  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors:  Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal:  Hum Genet       Date:  2016-04-21       Impact factor: 4.132

Review 5.  Genetic causes of haemophilia in women and girls.

Authors:  Connie H Miller; Christopher J Bean
Journal:  Haemophilia       Date:  2020-12-13       Impact factor: 4.263

6.  Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.

Authors:  Jane A Mason; Hnin T Aung; Adayapalam Nandini; Rickie G Woods; David J Fairbairn; John A Rowell; David Young; Rachel D Susman; Simon A Brown; Valentine J Hyland; Jeremy D Robertson
Journal:  Mol Genet Genomic Med       Date:  2018-02-28       Impact factor: 2.183

Review 7.  X-Chromosome Inactivation and Related Diseases.

Authors:  Zhuo Sun; Jinbo Fan; Yang Wang
Journal:  Genet Res (Camb)       Date:  2022-03-27       Impact factor: 1.588

8.  X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers.

Authors:  Isabella Garagiola; Mimosa Mortarino; Simona Maria Siboni; Marco Boscarino; Maria Elisa Mancuso; Marina Biganzoli; Elena Santagostino; Flora Peyvandi
Journal:  Eur J Hum Genet       Date:  2020-10-20       Impact factor: 4.246
  8 in total

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