A Swiss database and biobank to better understand and manage congenital lung anomalies
I Vidal, BE Wildhaber, U Moehrlen, N Regamey… - Swiss medical …, 2019 - boris.unibe.ch
… Currently, there is no clear consensus on management strategies. A Swiss congenital lung
anomaly national database and biobank was created in 2016 to enable data recording and …
anomaly national database and biobank was created in 2016 to enable data recording and …
New insights on congenital pulmonary airways malformations revealed by proteomic analyses
C Barazzone-Argiroffo, J Lascano Maillard… - Orphanet journal of rare …, 2019 - Springer
… whose pathological origin is still poorly understood [13]. In … on total lung samples either from
CPAM or control lung, but … of tissue samples from different biobanks, avoiding the shortage …
CPAM or control lung, but … of tissue samples from different biobanks, avoiding the shortage …
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
… landscape of applications including biobanks, databases and registries, … of diseases and
our ability to manage them. … is driven by the CAKUT (Congenital Anomalies of the Kidneys and …
our ability to manage them. … is driven by the CAKUT (Congenital Anomalies of the Kidneys and …
Genetics and genomics of pediatric pulmonary arterial hypertension
CL Welch, WK Chung - Genes, 2020 - mdpi.com
… to improve molecular diagnosis and clinical management. A … In the PAH Biobank, ten
additional TBX4 variants were … had additional diagnoses of other congenital anomalies. De novo …
additional TBX4 variants were … had additional diagnoses of other congenital anomalies. De novo …
Congenital cystic adenomatoid malformation (CCAM) type II: A rare case of sudden infant death
M Salerno, F Sessa, G Cocimano, S Roccuzzo… - Children, 2022 - mdpi.com
… : in 2016, the congenital lung anomalies (CLA) Swiss database (CLADatabase) was created,
… surgical lung samples, thus improving our knowledge regarding patient management [44]. …
… surgical lung samples, thus improving our knowledge regarding patient management [44]. …
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension
N Zhu, MW Pauciulo, CL Welch, KA Lutz… - Genome medicine, 2019 - Springer
… and pathways, and to understand the natural history of each … from 1832 unrelated PAH
Biobank cases and 5262 unrelated … a gene-based, case-control association analysis. To prevent …
Biobank cases and 5262 unrelated … a gene-based, case-control association analysis. To prevent …
Laser microdissection, proteomics, and multiplex immunohistochemistry: a bumpy ride into the study of paraffin-embedded fetal and pediatric lung tissues
LM Cardoso dos Santos, Y Avila, D Schvartz… - Frontiers in …, 2023 - frontiersin.org
… Many biobanks contain a multiplicity of these valuable … proteomics on congenital pulmonary
airway malformation human … yield of protein, we performed a single run of LC-MS/MS in five …
airway malformation human … yield of protein, we performed a single run of LC-MS/MS in five …
Biobank personnel—The key to its success
A Chróścicka, A Paluch… - Alternatives to …, 2022 - journals.sagepub.com
… for biobanks that are organised and run under a defined quality … biobank supervisor is
responsible for arranging and monitoring staff training, managing documentation and databases, …
responsible for arranging and monitoring staff training, managing documentation and databases, …
The landscape of biobanks in Poland—characteristics of Polish biobanking units at the beginning of BBMRI. pl organization
A Chróścicka, A Paluch, Ł Kozera… - Journal of Translational …, 2021 - Springer
… including web browsers, publication databases, and direct meetings with … management
system, our results indicate that Polish scientists do recognize that a QMS is essential in biobank …
system, our results indicate that Polish scientists do recognize that a QMS is essential in biobank …
Metabolomic profiling of adults with congenital heart disease
A Cedars, C Manlhiot, JM Ko, T Bottiglieri, E Arning… - Metabolites, 2021 - mdpi.com
… ACHD and control were investigated further by metabolic … in an ACHD clinical database
and biobank at Baylor University … or coronary anomalies). All data were collected in a REDCap …
and biobank at Baylor University … or coronary anomalies). All data were collected in a REDCap …