Literature DB >> 20700669

Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.

Yuhri Miyawaki, Atsuo Suzuki, Yuhta Fujimori, Akira Takagi, Takashi Murate, Nobuaki Suzuki, Akira Katsumi, Tomoki Naoe, Koji Yamamoto, Tadashi Matsushita, Junki Takamatsu, Tetsuhito Kojima.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20700669     DOI： 10.1007/s12185-010-0659-9

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


× No keyword cloud information.
  23 in total

1.  Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis.

Authors:  G C White; F Rosendaal; L M Aledort; J M Lusher; C Rothschild; J Ingerslev
Journal:  Thromb Haemost       Date:  2001-03       Impact factor: 5.249

2.  The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK.

Authors:  A M Cumming
Journal:  J Thromb Haemost       Date:  2004-01       Impact factor: 5.824

3.  A proximal conserved repeat in the Xist gene is essential as a genomic element for X-inactivation in mouse.

Authors:  Yuko Hoki; Naomi Kimura; Minako Kanbayashi; Yuko Amakawa; Tatsuya Ohhata; Hiroyuki Sasaki; Takashi Sado
Journal:  Development       Date:  2008-11-26       Impact factor: 6.868

4.  Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Authors:  Richard D Bagnall; Naushin Waseem; Peter M Green; Francesco Giannelli
Journal:  Blood       Date:  2002-01-01       Impact factor: 22.113

5.  Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A.

Authors:  Q Liu; G Nozari; S S Sommer
Journal:  Blood       Date:  1998-08-15       Impact factor: 22.113

6.  X inactivation in females with X-linked disease.

Authors:  J M Puck; H F Willard
Journal:  N Engl J Med       Date:  1998-01-29       Impact factor: 91.245

7.  Clonal determination by the fragile X (FMR1) and phosphoglycerate kinase (PGK) genes in hematological malignancies.

Authors:  S T Lee; R C McGlennen; C E Litz
Journal:  Cancer Res       Date:  1994-10-01       Impact factor: 12.701

8.  Tsix, a gene antisense to Xist at the X-inactivation centre.

Authors:  J T Lee; L S Davidow; D Warshawsky
Journal:  Nat Genet       Date:  1999-04       Impact factor: 38.330

9.  Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.

Authors:  L C Rossetti; C P Radic; I B Larripa; C D De Brasi
Journal:  J Thromb Haemost       Date:  2008-02-12       Impact factor: 5.824

10.  Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B.

Authors:  K Okumura; Y Fujimori; A Takagi; T Murate; M Ozeki; K Yamamoto; A Katsumi; T Matsushita; T Naoe; T Kojima
Journal:  Haemophilia       Date:  2008-06-05       Impact factor: 4.287
View more
  3 in total

1.  The Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A.

Authors:  Viviana Daidone; Eva Galletta; Antonella Bertomoro; Alessandra Casonato
Journal:  Blood Transfus       Date:  2016-11-15       Impact factor: 3.443

Review 2.  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

3.  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
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.