Prenatal and Postnatal Characterization of a De Novo Xq22.1 Terminal Deletion

2006 ◽  
Vol 10 (4) ◽  
pp. 272-276 ◽  
Author(s):  
Alicia Vaglio ◽  
Gonzalo Greif ◽  
Mery Bernal ◽  
Carlos Sanguinetti ◽  
Búrix Mechoso ◽  
...  
Keyword(s):  
De Novo ◽  
Terminal Deletion

scholarly journals Characterization of De Novo Synthesized GPCRs Supported in Nanolipoprotein Discs

PLoS ONE ◽  
2012 ◽  
Vol 7 (9) ◽  
pp. e44911 ◽  
Author(s):  
Tingjuan Gao ◽  
Jitka Petrlova ◽  
Wei He ◽  
Thomas Huser ◽  
Wieslaw Kudlick ◽  
...  
Keyword(s):  
De Novo

scholarly journals De Novo Assembly and Characterization of the Xenocatantops brachycerus Transcriptome

2018 ◽  
Vol 19 (2) ◽  
pp. 520 ◽  
Author(s):  
Le Zhao ◽  
Xinmei Zhang ◽  
Zhongying Qiu ◽  
Yuan Huang
Keyword(s):  
De Novo Assembly ◽  
De Novo

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

2018 ◽  
Vol Volume 11 ◽  
pp. 77-80 ◽  
Author(s):  
Isabel Ochando ◽  
Melanie Cristine Alonzo Martínez ◽  
Ana María Serrano ◽  
Antonio Urbano ◽  
Eduardo Cazorla ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals Ultrasound evaluation of access complications: Thrombosis, aneurysms, pseudoaneurysms and infections

2021 ◽  
pp. 112972982110180
Author(s):  
Mario Meola ◽  
Antonio Marciello ◽  
Gianfranco Di Salle ◽  
Ilaria Petrucci
Keyword(s):  
Vascular Access ◽  
Pulse Wave ◽  
De Novo ◽  
Late Complications ◽  
Prosthesis Infection ◽  
Ultrasound Evaluation ◽  
Access Complications ◽  
Vein Stenosis ◽  
Post Implantation

Arteriovenous fistula (AVF) complications are classified based on fistula outcomes. This review aims to update colour Doppler (CD) and pulse wave Doppler (PWD) roles in managing early and late complications of the native and prosthetic AVF. Vascular access (VA) failure occurs because inflow or outflow stenosis activates Wirchow’s triad inducing thrombosis. Therefore, the diagnosis of the tributary artery and outgoing vein stenosis will be the first topic considered. Post-implantation complications occur from the inability to achieve AVF maturation and dialysis suitability due to inflow/outflow stenosis. Late stenosis is usually a sequence of early defects repaired to maintain patency. Less frequently, in the mature AVF or graft, complications are acquired ‘de novo’. They derive either from incorrect management of vascular access (haematoma, pseudoaneurysm, prosthesis infection) or wall pathologies (aneurysm, myxoid valve degeneration, kinking, coiling, abnormal dilation from defects of elastic structures). High-resolution transducers (10–20 MHz) allow the characterization of the wall damage, haemodynamic dysfunctions, early and late complications even if phlebography remains the gold standard for the diagnosis for its sensitivity and specificity.

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

scholarly journals Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

2014 ◽  
Vol 7 (1) ◽  
pp. 49 ◽  
Author(s):  
Elisa Tassano ◽  
Andrea Accogli ◽  
Serena Panigada ◽  
Patrizia Ronchetto ◽  
Cristina Cuoco ◽  
...  
Keyword(s):  
De Novo ◽  
Genetic Characterization ◽  
Phenotypic And Genetic Characterization
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