Identification of a novel mutation in the BMPR2 gene in a pulmonary arterial hypertension patient using next‐generation sequencing

Arterial Hypertension ◽

Novel Mutation ◽

Next Generation ◽

Hypertension Patient ◽

Pulmonary Arterial ◽

P246Diagnostic yield of targeted next generation sequencing panel in pulmonary arterial hypertension and veno-occlusive disease according to the age at diagnosis

European Heart Journal ◽

10.1093/eurheartj/ehy564.p246 ◽

2018 ◽

Vol 39 (suppl_1) ◽

Author(s):

A Rodriguez Chaverri ◽

I Hernandez Gonzalez ◽

J Tenorio ◽

N Ochoa ◽

I Ponz De Antonio ◽

...

Keyword(s):

Arterial Hypertension ◽

Occlusive Disease ◽

Age At Diagnosis ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Pulmonary Arterial ◽

Guideline Based Estimates of Diagnostic and Treatment-Related Resource Use and Costs of a Typical Pulmonary Arterial Hypertension Patient to U.S. Health Plan

CHEST Journal ◽

10.1378/chest.1808915 ◽

2014 ◽

Vol 145 (3) ◽

pp. 510A

Author(s):

Vijay Joish ◽

Christine Divers ◽

Chakkarin CBurudpakdee ◽

Anshul Shah ◽

Stephen Mathai

Keyword(s):

Arterial Hypertension ◽

Health Plan ◽

Resource Use ◽

Hypertension Patient ◽

3′-Deoxy-3′-[18F]Fluorothymidine Positron Emission Tomography Depicts Heterogeneous Proliferation Pathology in Idiopathic Pulmonary Arterial Hypertension Patient Lung

Circulation Cardiovascular Imaging ◽

10.1161/circimaging.117.007402 ◽

2018 ◽

Vol 11 (8) ◽

Cited By ~ 7

Author(s):

Ali Ashek ◽

Onno A. Spruijt ◽

Hendrik J. Harms ◽

Adriaan A. Lammertsma ◽

John Cupitt ◽

...

Keyword(s):

Positron Emission Tomography ◽

Arterial Hypertension ◽

Idiopathic Pulmonary Arterial Hypertension ◽

Emission Tomography ◽

Hypertension Patient ◽

Positron Emission ◽

Severely reduced diffusion capacity in idiopathic pulmonary arterial hypertension: patient characteristics and treatment responses

European Respiratory Journal ◽

10.1183/09031936.00184412 ◽

2013 ◽

Vol 42 (6) ◽

pp. 1575-1585 ◽

Cited By ~ 65

Author(s):

Pia Trip ◽

Esther J. Nossent ◽

Frances S. de Man ◽

Inge A.H. van den Berk ◽

Anco Boonstra ◽

...

Keyword(s):

Arterial Hypertension ◽

Patient Characteristics ◽

Idiopathic Pulmonary Arterial Hypertension ◽

Diffusion Capacity ◽

Hypertension Patient ◽

Pulmonary Arterial ◽

Treatment Responses

Pulmonary Arterial Hypertension: Patient Transition From Epoprostenol to Bosenta

CHEST Journal ◽

10.1378/chest.124.4_meetingabstracts.89s-a ◽

2003 ◽

Vol 124 (4) ◽

pp. 89S

Author(s):

Zoheir Bshouty ◽

Frann Martins Da Ponte

Keyword(s):

Arterial Hypertension ◽

Hypertension Patient ◽

Nitric Oxide Attenuates Arterial Pulse Wave Reflection in a Vasodilator Responding Pulmonary Arterial Hypertension Patient

Circulation Cardiovascular Interventions ◽

10.1161/circinterventions.117.006242 ◽

2018 ◽

Vol 11 (3) ◽

Author(s):

Junjing Su ◽

Alun D. Hughes ◽

Ulf Simonsen ◽

Luke S. Howard

Keyword(s):

Nitric Oxide ◽

Arterial Hypertension ◽

Wave Reflection ◽

Pulse Wave ◽

Arterial Pulse ◽

Hypertension Patient ◽

Arterial Pulse Wave ◽

Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa

Medicine ◽

10.1097/md.0000000000013225 ◽

2018 ◽

Vol 97 (49) ◽

pp. e13225 ◽

Cited By ~ 2

Author(s):

Hairong Wang ◽

Yun Yang ◽

Jieqiong Zhou ◽

Jiangxia Cao ◽

Xuelian He ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Novel Mutation ◽

Next Generation ◽

Junctional Epidermolysis Bullosa ◽

Targeted Next Generation Sequencing ◽

Neonatal Patient ◽

Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase

Ophthalmic Genetics ◽

10.3109/13816810.2014.915328 ◽

2014 ◽

Vol 35 (3) ◽

pp. 142-150 ◽

Cited By ~ 11

Author(s):

Sherry Shen ◽

Tharikarn Sujirakul ◽

Stephen H. Tsang

Keyword(s):

Novel Mutation ◽

Beta Subunit ◽

Next Generation ◽

Gene Encoding ◽

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation inSLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.38189 ◽

2017 ◽

Vol 173 (6) ◽

pp. 1502-1513 ◽

Cited By ~ 3

Author(s):

Carlos R. Ferreira ◽

Matthew T. Whitehead ◽

Eyby Leon

Keyword(s):

Basal Ganglia ◽

Novel Mutation ◽

Allele Frequencies ◽

Next Generation Sequencing Data ◽

Next Generation ◽

Sequencing Data ◽

Disease Identification ◽

Basal Ganglia Disease ◽

Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome

Journal of Human Genetics ◽

10.1038/jhg.2016.127 ◽

2016 ◽

Vol 62 (2) ◽

pp. 291-297 ◽

Cited By ~ 10

Author(s):

Bing Xu ◽

Xiyuan Li ◽

Miaomiao Du ◽

Chao Zhou ◽

Hezhi Fang ◽

...

Keyword(s):

Novel Mutation ◽

Leigh Syndrome ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽