Literature DB >> 22274579

Clinical utility gene card for: familial erythrocytosis.

Kais Hussein1, Melanie Percy, Mary Frances McMullin.   

Abstract

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Year:  2012        PMID： 22274579      PMCID： PMC3330227          DOI： 10.1038/ejhg.2011.252

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  17 in total

1.  High oxygen affinity hemoglobin variant in a Canadian family: Hb Bunbury [beta94(FG1)Asp-->Asn, GAC-->AAC].

Authors:  Lynda Walker; Barry Eng; Andrew McFarlane; John S Waye
Journal:  Hemoglobin       Date:  2007       Impact factor: 0.849

2.  Familial polycythemia vera with non-germline JAK2(V617F) mutation sparing the abnormal and clonal granulopoiesis.

Authors:  K Hussein; O Bock; M Ballmaier; G Göhring; D Steinemann; U Lehmann; J Kemper; T Buhr; H Kreipe
Journal:  Leukemia       Date:  2007-07-12       Impact factor: 11.528

3.  A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

Authors:  Chloé James; Valérie Ugo; Jean-Pierre Le Couédic; Judith Staerk; François Delhommeau; Catherine Lacout; Loïc Garçon; Hana Raslova; Roland Berger; Annelise Bennaceur-Griscelli; Jean Luc Villeval; Stefan N Constantinescu; Nicole Casadevall; William Vainchenker
Journal:  Nature       Date:  2005-04-28       Impact factor: 49.962

4.  Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

Authors:  Silverio Perrotta; Bruno Nobili; Marcella Ferraro; Carmela Migliaccio; Adriana Borriello; Valeria Cucciolla; Vincenzo Martinelli; Francesca Rossi; Francesca Punzo; Paola Cirillo; Giuseppe Parisi; Vincenzo Zappia; Bruno Rotoli; Fulvio Della Ragione
Journal:  Blood       Date:  2005-10-06       Impact factor: 22.113

5.  The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis.

Authors:  Melanie J Percy; Frank G C Jones; Anthony R Green; John T Reilly; Mary Frances McMullin
Journal:  Haematologica       Date:  2006-02-17       Impact factor: 9.941

6.  Endemic polycythemia in Russia: mutation in the VHL gene.

Authors:  Sonny O Ang; Hua Chen; Victor R Gordeuk; Adelina I Sergueeva; Lydia A Polyakova; Galina Y Miasnikova; Robert Kralovics; David W Stockton; Josef T Prchal
Journal:  Blood Cells Mol Dis       Date:  2002 Jan-Feb       Impact factor: 3.039

Review 7.  Congenital polycythemias/erythrocytoses.

Authors:  Victor R Gordeuk; David W Stockton; Josef T Prchal
Journal:  Haematologica       Date:  2005-01       Impact factor: 9.941

8.  Erythrocytosis associated with a novel missense mutation in the HIF2A gene.

Authors:  Richard van Wijk; Scott Sutherland; Annet C W Van Wesel; Eric G Huizinga; Melanie J Percy; Marc Bierings; Frank S Lee
Journal:  Haematologica       Date:  2009-12-08       Impact factor: 9.941

9.  Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.

Authors:  Susana Rives; Heike L Pahl; Lourdes Florensa; Beatriz Bellosillo; Andrea Neusuess; Jesus Estella; Klaus-Michael Debatin; Elisabeth Kohne; Klaus Schwarz; Holger Cario
Journal:  Haematologica       Date:  2007-05       Impact factor: 9.941

10.  The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels.

Authors:  Melanie J Percy; Linda M Scott; Wendy N Erber; Claire N Harrison; John T Reilly; Frank G C Jones; Anthony R Green; Mary Frances McMullin
Journal:  Haematologica       Date:  2007-12       Impact factor: 9.941
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  7 in total

1.  Clinical utility gene card for: von Hippel-Lindau (VHL).

Authors:  Jochen Decker; Christine Neuhaus; Fiona Macdonald; Hiltrud Brauch; Eamonn R Maher
Journal:  Eur J Hum Genet       Date:  2013-08-28       Impact factor: 4.246

2.  Clinical utility gene card for: familial polycythaemia vera.

Authors:  Kais Hussein; Galit Granot; Ofer Shpilberg; Hans Kreipe
Journal:  Eur J Hum Genet       Date:  2012-10-03       Impact factor: 4.246

3.  Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Authors:  Carme Camps; Nayia Petousi; Celeste Bento; Holger Cario; Richard R Copley; Mary Frances McMullin; Richard van Wijk; Peter J Ratcliffe; Peter A Robbins; Jenny C Taylor
Journal:  Haematologica       Date:  2016-09-20       Impact factor: 9.941

Review 4.  Erythrocytosis: genes and pathways involved in disease development.

Authors:  Jernej Gašperšič; Aleša Kristan; Tanja Kunej; Irena Preložnik Zupan; Nataša Debeljak
Journal:  Blood Transfus       Date:  2020-12-16       Impact factor: 3.443

Review 5.  Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.

Authors:  Danijela Vočanec; Tinkara Prijatelj; Nataša Debeljak; Tanja Kunej
Journal:  Int J Lab Hematol       Date:  2018-12-03       Impact factor: 2.877

6.  The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

Authors:  Marta Kolonko-Adamska; Vladimir N Uversky; Beata Greb-Markiewicz
Journal:  Int J Mol Sci       Date:  2021-03-11       Impact factor: 5.923

7.  Investigation of genetic disturbances in oxygen sensing and erythropoietin signaling pathways in cases of idiopathic erythrocytosis.

Authors:  Carla Luana Dinardo; Paulo Caleb Junior Lima Santos; Isolmar Tadeu Schettert; Renata Alonso Gadi Soares; Jose Eduardo Krieger; Alexandre Costa Pereira
Journal:  Genet Res Int       Date:  2013-12-02
  7 in total

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