Literature DB >> 27812243

Molecular Genetic Diagnosis of the Inherited Bleeding Disorders: Are We Close to the Perfect Test?

Hara Prasad Pati1, Prashant Sharma2.   

Abstract

Year:  2016        PMID: 27812243      PMCID: PMC5074982          DOI: 10.1007/s12288-016-0726-3

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN: 0971-4502            Impact factor:   0.900


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  7 in total

1.  Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Authors:  Bin Zhang; Beth McGee; Jennifer S Yamaoka; Hugo Guglielmone; Katharine A Downes; Salvador Minoldo; Gustavo Jarchum; Flora Peyvandi; Norma B de Bosch; Arlette Ruiz-Saez; Bernard Chatelain; Marian Olpinski; Paula Bockenstedt; Wolfgang Sperl; Randal J Kaufman; William C Nichols; Edward G D Tuddenham; David Ginsburg
Journal:  Blood       Date:  2005-11-22       Impact factor: 22.113

Review 2.  Genomics of bleeding disorders.

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

3.  F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.

Authors:  Patricia Pinto; Kanjaksha Ghosh; Shrimati Shetty
Journal:  Mutat Res       Date:  2016-02-10       Impact factor: 2.433

Review 4.  Molecular testing for disorders of hemostasis.

Authors:  D Lillicrap
Journal:  Int J Lab Hematol       Date:  2013-06       Impact factor: 2.877

5.  In vitro sensitivity of different activated partial thromboplastin time reagents to mild clotting factor deficiencies.

Authors:  P Toulon; Y Eloit; M Smahi; C Sigaud; D Jambou; F Fischer; A Appert-Flory
Journal:  Int J Lab Hematol       Date:  2016-05-17       Impact factor: 2.877

6.  Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

Authors:  Simone Rost; Andreas Fregin; Vytautas Ivaskevicius; Ernst Conzelmann; Konstanze Hörtnagel; Hans-Joachim Pelz; Knut Lappegard; Erhard Seifried; Inge Scharrer; Edward G D Tuddenham; Clemens R Müller; Tim M Strom; Johannes Oldenburg
Journal:  Nature       Date:  2004-02-05       Impact factor: 49.962

7.  A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Authors:  Ilenia Simeoni; Jonathan C Stephens; Fengyuan Hu; Sri V V Deevi; Karyn Megy; Tadbir K Bariana; Claire Lentaigne; Sol Schulman; Suthesh Sivapalaratnam; Minka J A Vries; Sarah K Westbury; Daniel Greene; Sofia Papadia; Marie-Christine Alessi; Antony P Attwood; Matthias Ballmaier; Gareth Baynam; Emilse Bermejo; Marta Bertoli; Paul F Bray; Loredana Bury; Marco Cattaneo; Peter Collins; Louise C Daugherty; Rémi Favier; Deborah L French; Bruce Furie; Michael Gattens; Manuela Germeshausen; Cedric Ghevaert; Anne C Goodeve; Jose A Guerrero; Daniel J Hampshire; Daniel P Hart; Johan W M Heemskerk; Yvonne M C Henskens; Marian Hill; Nancy Hogg; Jennifer D Jolley; Walter H Kahr; Anne M Kelly; Ron Kerr; Myrto Kostadima; Shinji Kunishima; Michele P Lambert; Ri Liesner; José A López; Rutendo P Mapeta; Mary Mathias; Carolyn M Millar; Amit Nathwani; Marguerite Neerman-Arbez; Alan T Nurden; Paquita Nurden; Maha Othman; Kathelijne Peerlinck; David J Perry; Pawan Poudel; Pieter Reitsma; Matthew T Rondina; Peter A Smethurst; William Stevenson; Artur Szkotak; Salih Tuna; Christel van Geet; Deborah Whitehorn; David A Wilcox; Bin Zhang; Shoshana Revel-Vilk; Paolo Gresele; Daniel B Bellissimo; Christopher J Penkett; Michael A Laffan; Andrew D Mumford; Augusto Rendon; Keith Gomez; Kathleen Freson; Willem H Ouwehand; Ernest Turro
Journal:  Blood       Date:  2016-04-15       Impact factor: 25.476

  7 in total

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