Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

2001 ◽  
Vol 99 (4) ◽  
pp. 308-313 ◽  
Author(s):  
Palma Finelli ◽  
Daniela Giardino ◽  
Silvia Russo ◽  
Giulietta Gottardi ◽  
Francesca Cogliati ◽  
...  
Keyword(s):  
De Novo ◽  
Paracentric Inversion ◽  
Microdeletion Syndrome

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

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

Gene ◽  
2013 ◽  
Vol 516 (1) ◽  
pp. 158-161 ◽  
Author(s):  
Miroslava Hancarova ◽  
Sarka Vejvalkova ◽  
Marie Trkova ◽  
Jana Drabova ◽  
Alzbeta Dleskova ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Microdeletion Syndrome

scholarly journals De novo assembly and characterization of the root transcriptome of Aegilops variabilis during an interaction with the cereal cyst nematode

BMC Genomics ◽  
2012 ◽  
Vol 13 (1) ◽  
pp. 133 ◽  
Author(s):  
De-Lin Xu ◽  
Hai Long ◽  
Jun-Jun Liang ◽  
Jie Zhang ◽  
Xin Chen ◽  
...  
Keyword(s):  
De Novo Assembly ◽  
De Novo ◽  
Cyst Nematode ◽  
Cereal Cyst Nematode ◽  
Root Transcriptome ◽  
Aegilops Variabilis
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