Genetics of diaphragmatic hernia
Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidit...
Gespeichert in:
| Hauptverfasser: | , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
08 October 2021
|
| In: |
European journal of human genetics
Year: 2021, Jahrgang: 29, Heft: 12, Pages: 1729-1733 |
| ISSN: | 1476-5438 |
| DOI: | 10.1038/s41431-021-00972-0 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41431-021-00972-0 Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41431-021-00972-0 
|
| Verfasserangaben: | Yannick Schreiner, Thomas Schaible, Neysan Rafat |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1857688317 | ||
| 003 | DE-627 | ||
| 005 | 20240306115251.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230823s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1038/s41431-021-00972-0 |2 doi | |
| 035 | |a (DE-627)1857688317 | ||
| 035 | |a (DE-599)KXP1857688317 | ||
| 035 | |a (OCoLC)1425063150 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Schreiner, Yannick |d 1994- |e VerfasserIn |0 (DE-588)1299964346 |0 (DE-627)1857691237 |4 aut | |
| 245 | 1 | 0 | |a Genetics of diaphragmatic hernia |c Yannick Schreiner, Thomas Schaible, Neysan Rafat |
| 264 | 1 | |c 08 October 2021 | |
| 300 | |a 5 | ||
| 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 23.08.2023 | ||
| 520 | |a Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia. | ||
| 650 | 4 | |a Genetics research | |
| 650 | 4 | |a Mutation | |
| 650 | 4 | |a Respiratory tract diseases | |
| 700 | 1 | |a Schaible, Thomas |d 1960- |e VerfasserIn |0 (DE-588)1026440440 |0 (DE-627)726733342 |0 (DE-576)371782333 |4 aut | |
| 700 | 1 | |a Rafat, Neysan |d 1979- |e VerfasserIn |0 (DE-588)137475748 |0 (DE-627)695829815 |0 (DE-576)303079487 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t European journal of human genetics |d Basingstoke : Stockton Press, 1998 |g 29(2021), 12, Seite 1729-1733 |h Online-Ressource |w (DE-627)320443116 |w (DE-600)2005160-8 |w (DE-576)27386548X |x 1476-5438 |7 nnas |a Genetics of diaphragmatic hernia |
| 773 | 1 | 8 | |g volume:29 |g year:2021 |g number:12 |g pages:1729-1733 |g extent:5 |a Genetics of diaphragmatic hernia |
| 856 | 4 | 0 | |u https://doi.org/10.1038/s41431-021-00972-0 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.nature.com/articles/s41431-021-00972-0 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20230823 | ||
| 993 | |a Article | ||
| 994 | |a 2021 | ||
| 998 | |g 137475748 |a Rafat, Neysan |m 137475748:Rafat, Neysan |d 60000 |d 60001 |e 60000PR137475748 |e 60001PR137475748 |k 0/60000/ |k 1/60000/60001/ |p 3 | ||
| 998 | |g 1026440440 |a Schaible, Thomas |m 1026440440:Schaible, Thomas |d 60000 |d 62500 |e 60000PS1026440440 |e 62500PS1026440440 |k 0/60000/ |k 1/60000/62500/ |p 2 | ||
| 998 | |g 1299964346 |a Schreiner, Yannick |m 1299964346:Schreiner, Yannick |d 60000 |e 60000PS1299964346 |k 0/60000/ |p 1 |x j |y j | ||
| 999 | |a KXP-PPN1857688317 |e 436970989X | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedDisp":"08 October 2021","dateIssuedKey":"2021"}],"note":["Gesehen am 23.08.2023"],"title":[{"title":"Genetics of diaphragmatic hernia","title_sort":"Genetics of diaphragmatic hernia"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"recId":"1857688317","relHost":[{"corporate":[{"role":"isb","display":"European Society of Human Genetics"}],"language":["eng"],"part":{"year":"2021","pages":"1729-1733","text":"29(2021), 12, Seite 1729-1733","issue":"12","extent":"5","volume":"29"},"title":[{"title":"European journal of human genetics","title_sort":"European journal of human genetics","subtitle":"the official journal of the European Society of Human Genetics"}],"pubHistory":["Nachgewiesen 6.1998 -"],"origin":[{"publisherPlace":"Basingstoke","publisher":"Stockton Press","dateIssuedKey":"1998","dateIssuedDisp":"1998-"}],"note":["Gesehen am 20.11.18"],"disp":"Genetics of diaphragmatic herniaEuropean journal of human genetics","type":{"media":"Online-Ressource","bibl":"periodical"},"recId":"320443116","physDesc":[{"extent":"Online-Ressource"}],"id":{"eki":["320443116"],"issn":["1476-5438"],"zdb":["2005160-8"]}}],"name":{"displayForm":["Yannick Schreiner, Thomas Schaible, Neysan Rafat"]},"physDesc":[{"extent":"5 S."}],"id":{"doi":["10.1038/s41431-021-00972-0"],"eki":["1857688317"]},"person":[{"family":"Schreiner","display":"Schreiner, Yannick","given":"Yannick","role":"aut"},{"family":"Schaible","display":"Schaible, Thomas","given":"Thomas","role":"aut"},{"family":"Rafat","display":"Rafat, Neysan","given":"Neysan","role":"aut"}],"language":["eng"]} | ||
| SRT | |a SCHREINERYGENETICSOF0820 | ||