Literature DB >> 1678832

Late-onset homozygous protein C deficiency.

C B Grundy, E Melissari, V Lindo, M F Scully, V V Kakkar, D N Cooper.   

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Year:  1991        PMID： 1678832     DOI： 10.1016/0140-6736(91)91144-j

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  6 in total

1.  Myeloid/natural killer cell precursor acute leukemia accompanied by homozygous protein C deficiency.

Authors:  Takashi Shimamoto; Akihiro Nakajima; Tomoko Katagiri; Yoshikazu Ito; Kazuma Ohyashiki
Journal:  Int J Hematol       Date:  2003-08       Impact factor: 2.490

2.  A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects.

Authors:  Abdullah A Baothman; Enaam AlSobhi; Hassan A Khayat; Raed E Alsulami; Abdulaziz S Alkahtani; Abdelraheem A Al-Thobyani; Yousef I Marzouk; Mohammad A Abdelaal
Journal:  Clin Case Rep       Date:  2017-02-06

3.  Antithrombotic therapy in neonates and children: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines.

Authors:  Paul Monagle; Anthony K C Chan; Neil A Goldenberg; Rebecca N Ichord; Janna M Journeycake; Ulrike Nowak-Göttl; Sara K Vesely
Journal:  Chest       Date:  2012-02       Impact factor: 9.410

Review 4.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

5.  Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.

Authors:  Petr Vrtel; Ludek Slavik; Radek Vodicka; Julia Stellmachova; Martin Prochazka; Jana Prochazkova; Jana Ulehlova; Peter Rohon; Tomas Simurda; Jan Stasko; Ivana Martinkova; Radek Vrtel
Journal:  Diagnostics (Basel)       Date:  2022-04-23

6.  Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.

Authors:  Weihong Tang; Mary Rachel Stimson; Saonli Basu; Susan R Heckbert; Mary Cushman; James S Pankow; Aaron R Folsom; Nathan Pankratz
Journal:  J Thromb Haemost       Date:  2019-12-06       Impact factor: 5.824
  6 in total

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