Literature DB >> 21410641

Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification.

H Yadegari, J Driesen, M Hass, U Budde, A Pavlova, J Oldenburg.   

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Year:  2011        PMID： 21410641     DOI： 10.1111/j.1538-7836.2011.04260.x

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


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  9 in total

1.  Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.

Authors:  Ashley Cartwright; Simon J Webster; Annika de Jong; Richard J Dirven; Lisa D S Bloomer; Ahlam M Al-Buhairan; Ulrich Budde; Christer Halldén; David Habart; Jenny Goudemand; Ian R Peake; Jeroen C J Eikenboom; Anne C Goodeve; Daniel J Hampshire
Journal:  Blood Adv       Date:  2020-07-14

Review 2.  Genomics of bleeding disorders.

Authors:  A C Goodeve; A Pavlova; J Oldenburg
Journal:  Haemophilia       Date:  2014-05       Impact factor: 4.287

3.  The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.

Authors:  Daniel J Hampshire; Anne C Goodeve
Journal:  Haematologica       Date:  2011-06       Impact factor: 9.941

4.  The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.

Authors:  Veronica H Flood; Jessica Garcia; Sandra L Haberichter
Journal:  Curr Opin Hematol       Date:  2019-09       Impact factor: 3.284

5.  Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.

Authors:  Hamideh Yadegari; Julia Driesen; Anna Pavlova; Arijit Biswas; Vytautas Ivaskevicius; Robert Klamroth; Johannes Oldenburg
Journal:  Haematologica       Date:  2013-03-28       Impact factor: 9.941

6.  The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Authors:  M Bowman; A Tuttle; C Notley; C Brown; S Tinlin; M Deforest; J Leggo; V S Blanchette; D Lillicrap; P James
Journal:  J Thromb Haemost       Date:  2013-03       Impact factor: 5.824

7.  Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site.

Authors:  Hamideh Yadegari; Arijit Biswas; Mohammad Suhail Akhter; Julia Driesen; Vytautas Ivaskevicius; Natascha Marquardt; Johannes Oldenburg
Journal:  Blood       Date:  2016-08-19       Impact factor: 22.113

8.  Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD.

Authors:  Hamideh Yadegari; Muhammad Ahmer Jamil; Jens Müller; Natascha Marquardt; Orla Rawley; Ulrich Budde; Osman El-Maarri; David Lillicrap; Johannes Oldenburg
Journal:  Blood Adv       Date:  2022-02-08

9.  A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel-Palade Bodies.

Authors:  Hamideh Yadegari; Muhammad Ahmer Jamil; Natascha Marquardt; Johannes Oldenburg
Journal:  Int J Mol Sci       Date:  2022-03-13       Impact factor: 5.923
  9 in total

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