Results 41 to 50 of about 28,021 (274)

0398: Transcatheter closure of traumatic induced VSD

, 2016
Traumatic induced VSD is a rare but serious disease because of the acute hemodynamic changes. We reported one center experience in the interventional catheterization closure of traumatic induced VSD during the last ten years.
Domanski, Olivia, Recher, Morgan, Godart, François, Houeijeh, Ali, Polge, Anne-Sophie, Guillaume, Marie-Paule   +5 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Differentially expressed miRNAs in patients with VSD.

, 2014
miRNA, microRNA; VSD, ventricular septal defect; RT-PCR reverse transcriptase polymerase chain reaction.Differentially expressed miRNAs in patients with VSD.
Qiang Sun (225630), Lianbo Liu (622764), Haifeng Hou (622765), Zhongtang Zhao (520419), Yizhi Liu (90863), Kunkun Yu (622766), Dong Li (212687), Long Ji (622763)   +7 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Can steam be usable as a “plus” for ventilation shutdown?

Journal of Applied Poultry Research
SUMMARY: The American Veterinary Medical Association (AVMA), preferred depopulation methods (i.e., foam, containerized gassing, and mechanical methods) can be challenging when depopulating cage and aviary commercial laying hen houses for multiple reasons.
A.V. Mendoza, S. Weimer, Z. Williams
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Trends, Clinical Correlates, Mortality Rates, and Follow-Up Events in Children with Ventricular Septal Defect

International Journal of Medicine and Health Development
Background: Apart from the bicuspid aortic valve, ventricular septal defect (VSD) is the most common congenital heart defect in children. The defect is not without several associations and correlates. Objectives: To elicit the trends, clinical correlates,
Josephat M. Chinawa, Awoere T. Chinawa, Chika O. Duru, Jude T. Onyia, Ndubuisi A. Uwaezuoke, Frank Ogbuka, Bartholomew F. Chukwu   +6 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Enabling the study of gene function in gymnosperms: Virus‐induced gene silencing in Ephedra tweedieana

Applications in Plant Sciences, EarlyView.
Abstract Premise As the sister clade to angiosperms, extant gymnosperms are crucial for reconstructing ancestral gene regulatory networks in seed plants. This highlights the need for model systems representing each of their distinct lineages. However, tools to quickly and effectively investigate gene function in gymnosperms are still limited due to the
Anthony G. K. Garcia, Jo Trang Bùi, Todd P. Michael, Stefanie M. Ickert‐Bond, Verónica S. Di Stilio   +4 more
wiley   +1 more source

A robot with human values: assessing value-sensitive design in an agri-food context

Journal of Responsible Technology
Value Sensitive Design (VSD) aims to take societal values on board in the design of innovative technologies. While a lot has been written on VSD and the added value of using it for technology development, limited literature is available on its ...
Else Giesbers, Kelly Rijswijk, Mark Ryan, Mashiat Hossain, Aneesh Chauhan   +4 more
doaj   +1 more source