Literature DB >> 16241967

Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture.

R D Bagnall, F Giannelli, P M Green.   

Abstract

Entities:  

Mesh：

Year:  2005        PMID： 16241967     DOI： 10.1111/j.1538-7836.2005.01566.x

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


× No keyword cloud information.
  6 in total

1.  Assaying chromosomal inversions by single-molecule haplotyping.

Authors:  Daniel J Turner; Jay Shendure; Greg Porreca; George Church; Peter Green; Chris Tyler-Smith; Matthew E Hurles
Journal:  Nat Methods       Date:  2006-06       Impact factor: 28.547

Review 2.  Genetic testing in bleeding disorders.

Authors:  C de Brasi; O El-Maarri; D J Perry; J Oldenburg; B Pezeshkpoor; A Goodeve
Journal:  Haemophilia       Date:  2014-05       Impact factor: 4.287

3.  Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.

Authors:  Nathalie Lannoy; Bernard Grisart; Stéphane Eeckhoudt; Christine Verellen-Dumoulin; Catherine Lambert; Miikka Vikkula; Cédric Hermans
Journal:  Eur J Hum Genet       Date:  2013-01-09       Impact factor: 4.246

Review 4.  Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR.

Authors:  Liliana C Rossetti; Claudia P Radic; Miguel M Abelleyro; Irene B Larripa; Carlos D De Brasi
Journal:  Int J Mol Sci       Date:  2011-10-24       Impact factor: 5.923

Review 5.  Human inversions and their functional consequences.

Authors:  Marta Puig; Sònia Casillas; Sergi Villatoro; Mario Cáceres
Journal:  Brief Funct Genomics       Date:  2015-05-20       Impact factor: 4.241

6.  Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.

Authors:  Ayman W El-Hattab; Christian P Schaaf; Ping Fang; Elizabeth Roeder; Virginia E Kimonis; Joseph A Church; Ankita Patel; Sau Wai Cheung
Journal:  BMC Med Genet       Date:  2015-03-14       Impact factor: 2.103
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.