Literature DB >> 22759210

Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening.

A B Payne, C J Bean, W C Hooper, C H Miller.   

Abstract

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Year:  2012        PMID： 22759210      PMCID： PMC4521386          DOI： 10.1111/j.1538-7836.2012.04843.x

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


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  12 in total

Review 1.  Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Authors:  F Peyvandi; G Jayandharan; M Chandy; A Srivastava; S M Nakaya; M J Johnson; A R Thompson; A Goodeve; I Garagiola; S Lavoretano; M Menegatti; R Palla; M Spreafico; L Tagliabue; R Asselta; S Duga; P M Mannucci
Journal:  Haemophilia       Date:  2006-07       Impact factor: 4.287

2.  MLPA assay in F8 gene mutation screening.

Authors:  M Acquila; M Pasino; M Di Duca; F Bottini; A C Molinari; M P Bicocchi
Journal:  Haemophilia       Date:  2008-02-25       Impact factor: 4.287

3.  Detection of large duplications within the factor VIII gene by MLPA.

Authors:  S Rost; S Löffler; A Pavlova; C R Müller; J Oldenburg
Journal:  J Thromb Haemost       Date:  2008-08-22       Impact factor: 5.824

4.  F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.

Authors:  C H Miller; J Benson; D Ellingsen; J Driggers; A Payne; F M Kelly; J M Soucie; W Craig Hooper
Journal:  Haemophilia       Date:  2011-11-21       Impact factor: 4.287

Review 5.  Genetic risk factors for inhibitors to factors VIII and IX.

Authors:  J Oldenburg; A Pavlova
Journal:  Haemophilia       Date:  2006-12       Impact factor: 4.287

6.  The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.

Authors:  Maurizio Margaglione; Giancarlo Castaman; Massimo Morfini; Angiola Rocino; Elena Santagostino; Giuseppe Tagariello; Anna Rita Tagliaferri; Ezio Zanon; Maria Patrizia Bicocchi; Giuseppe Castaldo; Flora Peyvandi; Rosa Santacroce; Francesca Torricelli; Elvira Grandone; Pier Mannuccio Mannucci
Journal:  Haematologica       Date:  2008-04-02       Impact factor: 9.941

Review 7.  Understanding inhibitor development in haemophilia A: towards clinical prediction and prevention strategies.

Authors:  A Coppola; C Santoro; A Tagliaferri; M Franchini; G DI Minno
Journal:  Haemophilia       Date:  2010-01       Impact factor: 4.287

8.  Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators.

Authors:  J M Soucie; B Evatt; D Jackson
Journal:  Am J Hematol       Date:  1998-12       Impact factor: 10.047

9.  Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.

Authors:  M-J Kwon; K-Y Yoo; H-J Kim; S-H Kim
Journal:  Haemophilia       Date:  2008-07-08       Impact factor: 4.287

10.  Factor VIII genotype and inhibitor development in patients with haemophilia A: highest risk in patients with splice site mutations.

Authors:  J Boekhorst; G R Lari; R D'Oiron; J M Costa; I R O Nováková; F A Ala; J M Lavergne; W L VAN Heerde
Journal:  Haemophilia       Date:  2008-05-12       Impact factor: 4.287
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  2 in total

Review 1.  Hemophilia B: molecular pathogenesis and mutation analysis.

Authors:  A C Goodeve
Journal:  J Thromb Haemost       Date:  2015-05-18       Impact factor: 5.824

2.  Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.

Authors:  Sumin Zhao; Yaoshen Wang; Xiuqing Xin; Zhonghai Fang; Linlin Fan; Zhiyu Peng; Rui Han; Chaonan Shi; Yixiang Zhang; Chuang Fan; Jun Sun; Xuelian He
Journal:  Sci Rep       Date:  2022-01-07       Impact factor: 4.379
  2 in total

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