Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH
Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
February 23, 2023.
|
| In: |
The European respiratory journal
Year: 2023, Jahrgang: 61, Heft: 2, Pages: 1-17 |
| ISSN: | 1399-3003 |
| DOI: | 10.1183/13993003.01471-2022 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1183/13993003.01471-2022 Verlag, lizenzpflichtig, Volltext: https://erj.ersjournals.com/content/61/2/2201471 
|
| Verfasserangaben: | Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung, Stefan Gräf, Ekkehard Grünig, David Montani, Rozenn Quarck, Jair A. Tenorio-Castano, Florent Soubrier, Richard C. Trembath and Nicholas W. Morrell for PAH-ICON associated with the PVRI |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1848856326 | ||
| 003 | DE-627 | ||
| 005 | 20231213091106.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230613s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1183/13993003.01471-2022 |2 doi | |
| 035 | |a (DE-627)1848856326 | ||
| 035 | |a (DE-599)KXP1848856326 | ||
| 035 | |a (OCoLC)1389528153 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Eichstaedt, Christina |e VerfasserIn |0 (DE-588)1110189419 |0 (DE-627)864806752 |0 (DE-576)47573503X |4 aut | |
| 245 | 1 | 0 | |a Genetic counselling and testing in pulmonary arterial hypertension |b a consensus statement on behalf of the International Consortium for Genetic Studies in PAH |c Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung, Stefan Gräf, Ekkehard Grünig, David Montani, Rozenn Quarck, Jair A. Tenorio-Castano, Florent Soubrier, Richard C. Trembath and Nicholas W. Morrell for PAH-ICON associated with the PVRI |
| 264 | 1 | |c February 23, 2023. | |
| 300 | |b Illustrationen | ||
| 300 | |a 17 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 13.06.2023 | ||
| 520 | |a Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits/risks of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. ... | ||
| 700 | 1 | |a Belge, Catharina |e VerfasserIn |4 aut | |
| 700 | 1 | |a Chung, Wendy K. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gräf, Stefan |e VerfasserIn |4 aut | |
| 700 | 1 | |a Grünig, Ekkehard |e VerfasserIn |0 (DE-588)112535801 |0 (DE-627)618892605 |0 (DE-576)31856694X |4 aut | |
| 700 | 1 | |a Montani, David |e VerfasserIn |4 aut | |
| 700 | 1 | |a Quarck, Rozenn |e VerfasserIn |4 aut | |
| 700 | 1 | |a Tenorio-Castano, Jair A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Soubrier, Florent |e VerfasserIn |4 aut | |
| 700 | 1 | |a Trembath, Richard C. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Morrell, Nicholas W. |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t The European respiratory journal |d Lausanne : ERS, 1988 |g 61(2023), 2, Artikel-ID 2201471, Seite 1-17 |h Online-Ressource |w (DE-627)306646803 |w (DE-600)1499101-9 |w (DE-576)091142504 |x 1399-3003 |7 nnas |a Genetic counselling and testing in pulmonary arterial hypertension a consensus statement on behalf of the International Consortium for Genetic Studies in PAH |
| 773 | 1 | 8 | |g volume:61 |g year:2023 |g number:2 |g elocationid:2201471 |g pages:1-17 |g extent:17 |a Genetic counselling and testing in pulmonary arterial hypertension a consensus statement on behalf of the International Consortium for Genetic Studies in PAH |
| 856 | 4 | 0 | |u https://doi.org/10.1183/13993003.01471-2022 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://erj.ersjournals.com/content/61/2/2201471 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20230613 | ||
| 993 | |a Article | ||
| 994 | |a 2023 | ||
| 998 | |g 112535801 |a Grünig, Ekkehard |m 112535801:Grünig, Ekkehard |d 50000 |e 50000PG112535801 |k 0/50000/ |p 5 | ||
| 998 | |g 1110189419 |a Eichstaedt, Christina |m 1110189419:Eichstaedt, Christina |d 910000 |d 950000 |d 950900 |d 910000 |d 911500 |e 910000PE1110189419 |e 950000PE1110189419 |e 950900PE1110189419 |e 910000PE1110189419 |e 911500PE1110189419 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |k 0/910000/ |k 1/910000/911500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1848856326 |e 4334113907 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedDisp":"February 23, 2023.","dateIssuedKey":"2023"}],"id":{"eki":["1848856326"],"doi":["10.1183/13993003.01471-2022"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"language":["eng"],"physDesc":[{"noteIll":"Illustrationen","extent":"17 S."}],"person":[{"role":"aut","given":"Christina","display":"Eichstaedt, Christina","family":"Eichstaedt"},{"given":"Catharina","display":"Belge, Catharina","family":"Belge","role":"aut"},{"role":"aut","family":"Chung","display":"Chung, Wendy K.","given":"Wendy K."},{"role":"aut","family":"Gräf","display":"Gräf, Stefan","given":"Stefan"},{"family":"Grünig","display":"Grünig, Ekkehard","given":"Ekkehard","role":"aut"},{"family":"Montani","display":"Montani, David","given":"David","role":"aut"},{"given":"Rozenn","display":"Quarck, Rozenn","family":"Quarck","role":"aut"},{"role":"aut","display":"Tenorio-Castano, Jair A.","family":"Tenorio-Castano","given":"Jair A."},{"role":"aut","family":"Soubrier","display":"Soubrier, Florent","given":"Florent"},{"role":"aut","given":"Richard C.","family":"Trembath","display":"Trembath, Richard C."},{"family":"Morrell","display":"Morrell, Nicholas W.","given":"Nicholas W.","role":"aut"}],"title":[{"title_sort":"Genetic counselling and testing in pulmonary arterial hypertension","title":"Genetic counselling and testing in pulmonary arterial hypertension","subtitle":"a consensus statement on behalf of the International Consortium for Genetic Studies in PAH"}],"relHost":[{"type":{"media":"Online-Ressource","bibl":"periodical"},"language":["eng"],"id":{"zdb":["1499101-9"],"issn":["1399-3003"],"eki":["306646803"]},"corporate":[{"role":"isb","display":"European Respiratory Society"}],"disp":"Genetic counselling and testing in pulmonary arterial hypertension a consensus statement on behalf of the International Consortium for Genetic Studies in PAHThe European respiratory journal","pubHistory":["1.1988 -"],"note":["Gesehen am 25.04.2025","Fortsetzung der Druck-Ausgabe"],"recId":"306646803","name":{"displayForm":["European Respiratory Society"]},"origin":[{"publisherPlace":"Lausanne ; Copenhagen","dateIssuedDisp":"1988-","dateIssuedKey":"1988","publisher":"ERS ; Munksgaard"}],"part":{"text":"61(2023), 2, Artikel-ID 2201471, Seite 1-17","pages":"1-17","volume":"61","issue":"2","extent":"17","year":"2023"},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"European respiratory journal","title":"The European respiratory journal","subtitle":"flagship scientific journal of ERS"}],"titleAlt":[{"title":"official journal of the European Society for Clinical Respiratory Physiology : ERJ"},{"title":"ERJ"}]}],"name":{"displayForm":["Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung, Stefan Gräf, Ekkehard Grünig, David Montani, Rozenn Quarck, Jair A. Tenorio-Castano, Florent Soubrier, Richard C. Trembath and Nicholas W. Morrell for PAH-ICON associated with the PVRI"]},"note":["Gesehen am 13.06.2023"],"recId":"1848856326"} | ||
| SRT | |a EICHSTAEDTGENETICCOU2320 | ||