Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Peter, Conner"'
Autor:
Carmen Mesas Burgos, Willemijn Irvine, Alexandre Vivanti, Peter Conner, Egle Machtejeviene, Nina Peters, Joan Sabria, Ana Sanchez Torres, Costanza Tognon, Alberto Sgró, Antti Kouvisalo, Hester Langeveld-Benders, Rony Sfeir, Marc Miserez, Nils Qvist, Ausra Lokosiute-Urboniene, Katrin Zahn, Julia Brendel, Jordi Prat, Simon Eaton, Alexandra Benachi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care. Method A systematic literature search including 136 publications wa
Externí odkaz:
https://doaj.org/article/57f8ea7b5b104475abd09abfaea81c5e
Autor:
Sumit Bhutada, Karin Tran-Lundmark, Benjamin Kramer, Peter Conner, Ashley M. Lowry, Eugene Blackstone, Bjorn Frenckner, Carmen Mesas-Burgos, Suneel S. Apte
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Congenital diaphragmatic hernia (CDH) is a severe birth defect frequently associated with pulmonary hypoplasia, pulmonary hypertension, and heart failure. Since amniotic fluid comprises proteins of both fetal and maternal origin, its analysi
Externí odkaz:
https://doaj.org/article/586eac0df2f84f90852889233d23556b
Autor:
Nam K. Tran, Larissa May, Stuart H. Cohen, John Rodrigo, Raymond Gong, Ying Liu, Peter Conner
Publikováno v:
Practical Laboratory Medicine, Vol 31, Iss , Pp e00289- (2022)
Background: The 2019 novel coronavirus infectious disease (COVID-19) pandemic resulted in a surge of assays aimed at detecting severe acute respiratory syndrome (SARS) – coronavirus (CoV) – 2 infection and prior exposure. Although both molecular
Externí odkaz:
https://doaj.org/article/dada5c112f0143feadd674e91e66c621
Autor:
Anders Larsson, Henrik Imberg, Anna-Karin Wikström, Peter Lindgren, Bo Jacobsson, Anna Sandström, Stefan Hansson, Peter Conner, Ylva Carlsson
Publikováno v:
BMJ Open, Vol 10, Iss 9 (2020)
Externí odkaz:
https://doaj.org/article/f222b6e03d5d4bfea0c98621c401dde5
Autor:
Peter Conner, Erik Iwarsson
Publikováno v:
Prenatal Diagnosis. 40:852-859
OBJECTIVES To determine the detection rates of all types of chromosome aberrations and the residual risk for postnatal diagnosis of an atypical chromosome aberration depending on the strategy for further investigation with either noninvasive prenatal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978e6cb817a8d4cd6638c376ad159c3d
https://doi.org/10.1002/pd.5698
https://doi.org/10.1002/pd.5698
Publikováno v:
Journal of pediatric surgery. 57(10)
The natural history of congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestrations (BPS) is not fully understood, and the management of the newborn with an asymptomatic lesion is a controversial issue. We aimed to study the n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0467149e82176869f30d3987fff46e13
https://pubmed.ncbi.nlm.nih.gov/35431039
https://pubmed.ncbi.nlm.nih.gov/35431039
Publikováno v:
Fetal Diagnosis and Therapy. 46:385-391
Background: The etiology of congenital diaphragmatic hernia (CDH) remains poorly understood. We hypothesize that environmental factors play an important role in the development of CDH. Aim: The objective of this study was to investigate associated ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f9cd02bd1f6f0c42021feb98a76a0c
https://doi.org/10.1159/000497619
https://doi.org/10.1159/000497619
Autor:
Ulrika Voss, Maria Pettersson, Peter Conner, Angela E. Lin, Anna Hammarsjö, Ann Nordgren, Fulya Taylan, Britt-Marie Anderlid, Anna Lindstrand, Kristina Lagerstedt-Robinson, Liene Korņejeva, Måns Magnusson, Giedre Grigelioniene, Donald Basel, Atsuhiko Handa, Valtteri Wirta, Henrik Stranneheim, Naoko Ohashi-Fukuda, Katta M. Girisha, Hironobu Hyodo, Daniel Nilsson, Shalini S. Nayak, David Chitayat, Jesper Eisfeldt, Brian H.Y. Chung, Eva Horemuzova, Gen Nishimura, Shahida Moosa, Rasa Traberg, Ana Beleza-Meireles, Marco Bartocci, Dominyka Batkovskyte, Hirofumi Ohashi
Publikováno v:
Journal of Human Genetics
Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural ci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8b42e48d199669473107c8068229705
https://pubmed.ncbi.nlm.nih.gov/33875766
https://pubmed.ncbi.nlm.nih.gov/33875766
Publikováno v:
Pediatric Surgery International
Background Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented. Aim To investigate the different types of associated anomalies, long-term survival and the ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eef5b8d7d6e5e982a5ed91a23134682
https://doi.org/10.1007/s00383-018-4265-x
https://doi.org/10.1007/s00383-018-4265-x