Publications:

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

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: BMPR2: H533R

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Respiratory Research

Pfarr, Nicole N; Szamalek-Hoegel, Justyna J; Fischer, Christine C; Hinderhofer, Katrin K; Nagel, Christian C; Ehlken, Nicola N; Tiede, Henning H; Olschewski, Horst H; Reichenberger, Frank F; Ghofrani, Ardeschir H A AH; Seeger, Werner W; Grünig, Ekkehard E

Publication Date: 2011-07-29

Variant appearance in text: BMPR2: 1598A>G; H533R

PubMed Link: 21801371

Variant Present in the following documents:

• Main text
• 1465-9921-12-99.pdf

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Genetics and genomics of pulmonary arterial hypertension.

Journal Of The American College Of Cardiology

Machado, Rajiv D RD; Eickelberg, Oliver O; Elliott, C Gregory CG; Geraci, Mark W MW; Hanaoka, Masayuki M; Loyd, James E JE; Newman, John H JH; Phillips, John A JA; Soubrier, Florent F; Trembath, Richard C RC; Chung, Wendy K WK

Publication Date: 2009-06-30

Variant appearance in text: BMPR2: 1598A>G

PubMed Link: 19555857

Variant Present in the following documents:

• Main text

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