Literature DB >> 21750090

An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.

Pierre Boisseau, Mathilde Giraud, Catherine Ternisien, Agnès Veyradier, Edith Fressinaud, Armelle Lefrancois, Stéphane Bezieau, Marc Fouassier.   

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Year:  2011        PMID： 21750090      PMCID： PMC3186323          DOI： 10.3324/haematol.2010.036897

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  11 in total

Review 1.  A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.

Authors:  Eric Engel
Journal:  Eur J Hum Genet       Date:  2006-05-17       Impact factor: 4.246

2.  Tetranucleotide repeat polymorphism in the vWF gene.

Authors:  H K van Amstel; P H Reitsma
Journal:  Nucleic Acids Res       Date:  1990-08-25       Impact factor: 16.971

3.  Polymerase chain reaction amplification of two polymorphic simple repeat sequences within the von Willebrand factor gene: application to family studies in von Willebrand disease.

Authors:  A M Cumming; J G Armstrong; K Pendry; A M Burn; R T Wensley
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

Review 4.  Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.

Authors:  J E Sadler; U Budde; J C J Eikenboom; E J Favaloro; F G H Hill; L Holmberg; J Ingerslev; C A Lee; D Lillicrap; P M Mannucci; C Mazurier; D Meyer; W L Nichols; M Nishino; I R Peake; F Rodeghiero; R Schneppenheim; Z M Ruggeri; A Srivastava; R R Montgomery; A B Federici
Journal:  J Thromb Haemost       Date:  2006-08-02       Impact factor: 5.824

5.  Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene.

Authors:  P Casaña; F Martinez; J A Aznar; J I Lorenzo; J I Jorquera
Journal:  Haemostasis       Date:  1995 Nov-Dec

6.  Incidence of severe von Willebrand's disease.

Authors:  H J Weiss; A P Ball; P M Mannucci
Journal:  N Engl J Med       Date:  1982-07-08       Impact factor: 91.245

7.  Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study.

Authors:  G Castaman; F Rodeghiero; A Tosetto; A Cappelletti; F Baudo; J C J Eikenboom; A B Federici; S Lethagen; S Linari; J Lusher; M Nishino; P Petrini; A Srivastava; J S Ungerstedt
Journal:  J Thromb Haemost       Date:  2006-10       Impact factor: 5.824

8.  Structure of the gene for human von Willebrand factor.

Authors:  D J Mancuso; E A Tuley; L A Westfield; N K Worrall; B B Shelton-Inloes; J M Sorace; Y G Alevy; J E Sadler
Journal:  J Biol Chem       Date:  1989-11-25       Impact factor: 5.157

9.  A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

Authors:  J E Sadler
Journal:  Thromb Haemost       Date:  1994-04       Impact factor: 5.249

10.  Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene.

Authors:  I R Peake; D Bowen; P Bignell; M B Liddell; J E Sadler; G Standen; A L Bloom
Journal:  Blood       Date:  1990-08-01       Impact factor: 22.113
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  2 in total

Review 1.  Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

Authors:  Jessica E King; Amy Dexter; Inder Gadi; Val Zvereff; Meaghan Martin; Miriam Bloom; Adeline Vanderver; Amy Pizzino; Johanna L Schmidt
Journal:  J Genet Couns       Date:  2014-04-30       Impact factor: 2.537

2.  Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

Authors:  Mayuko Tamura; Tsuyoshi Isojima; Minae Kawashima; Hideki Yoshida; Keiko Yamamoto; Taichi Kitaoka; Noriyuki Namba; Akira Oka; Keiichi Ozono; Katsushi Tokunaga; Sachiko Kitanaka
Journal:  PLoS One       Date:  2015-07-08       Impact factor: 3.240
  2 in total

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