Literature DB >> 22654007

Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation.

Nelly Frydman, Julie Steffann, Barbara Girerd, René Frydman, Arnold Munnich, Gérald Simonneau, Marc Humbert.   

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Year:  2012        PMID： 22654007     DOI： 10.1183/09031936.00185011

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  7 in total

1.  Translational Advances in the Field of Pulmonary Hypertension Molecular Medicine of Pulmonary Arterial Hypertension. From Population Genetics to Precision Medicine and Gene Editing.

Authors:  Eric D Austin; James West; James E Loyd; Anna R Hemnes
Journal:  Am J Respir Crit Care Med       Date:  2017-01-01       Impact factor: 21.405

Review 2.  The genetic basis of pulmonary arterial hypertension.

Authors:  Lijiang Ma; Wendy K Chung
Journal:  Hum Genet       Date:  2014-01-21       Impact factor: 4.132

3.  Heritable forms of pulmonary arterial hypertension.

Authors:  Eric D Austin; James E Loyd
Journal:  Semin Respir Crit Care Med       Date:  2013-09-13       Impact factor: 3.119

4.  Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA.

Authors:  Joseph E Jacher; Lisa J Martin; Wendy K Chung; James E Loyd; William C Nichols
Journal:  Pulm Circ       Date:  2017-03-27       Impact factor: 3.017

5.  EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.

Authors:  Christina A Eichstaedt; Jie Song; Nicola Benjamin; Satenik Harutyunova; Christine Fischer; Ekkehard Grünig; Katrin Hinderhofer
Journal:  Respir Res       Date:  2016-11-04

6.  BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.

Authors:  Jie Song; Katrin Hinderhofer; Lilian T Kaufmann; Nicola Benjamin; Christine Fischer; Ekkehard Grünig; Christina A Eichstaedt
Journal:  Genes (Basel)       Date:  2020-10-06       Impact factor: 4.096

Review 7.  Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Authors:  Rajiv D Machado; Laura Southgate; Christina A Eichstaedt; Micheala A Aldred; Eric D Austin; D Hunter Best; Wendy K Chung; Nicola Benjamin; C Gregory Elliott; Mélanie Eyries; Christine Fischer; Stefan Gräf; Katrin Hinderhofer; Marc Humbert; Steven B Keiles; James E Loyd; Nicholas W Morrell; John H Newman; Florent Soubrier; Richard C Trembath; Rebecca Rodríguez Viales; Ekkehard Grünig
Journal:  Hum Mutat       Date:  2015-10-12       Impact factor: 4.878
  7 in total

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