Results 141 to 150 of about 138,822 (261)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Site-specific and global glycan analysis of the human cytomegalovirus pentameric glycoprotein by high resolution mass spectrometry. [PDF]

Glycobiology
Lembo A, Sardone GL, Aurilia M, Speciale I, De Castro C, Biagini M.   +5 more
europepmc   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Investigation of Epstein-Barr virus or human cytomegalovirus in pediatric gliomas: A retrospective single-center study from Tunisia. [PDF]

Biochem Biophys Rep
Missaoui N, Bdioui A, Lajmi Z, Moussa S, Suiden Y, Jradi N, Belkacem O, Bouazzi A, Mestiri S, Iadh K, Hmissa S.   +10 more
europepmc   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Integrative immunoinformatics and structural modeling for the rational design of a multi-epitope vaccine candidate against human cytomegalovirus. [PDF]

Sci Rep
Emmanuel OP, Sandrine MNY, Claude BD, Ogunlakin AD, Ronald BAG, Desire DDP, Aziz T, Aljumaa MA, Alkhatib SN, Sagini HA.   +9 more
europepmc   +1 more source

Human Cytomegalovirus

Transfusion Medicine and Hemotherapy, 2005
openaire   +1 more source

Innovative PLA or PCL‐Based Ocular Implants Obtained From Tape Casting or Electrospinning for Sustained‐Release Dexamethasone

Journal of Applied Polymer Science, EarlyView.
PLA and PCL ocular implants prepared by tape casting and electrospinning provide sustained dexamethasone release with distinct release profiles governed by polymer type and processing method. The relationship between polymer structure, degradation behavior, and drug release demonstrates the potential of these fabrication techniques for controlled ...
Renata Bochanoski, Henrique Borba Modolon, Ronaldo Silveira, Januara Rodrigues, Tiago Bender Wermuth, Sabrina Arcaro, Oscar R. K. Montedo   +6 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Erratum for Gong et al., "Evidence for G-quadruplex-mediated transactivation by the immediate-early 2 protein of human cytomegalovirus". [PDF]

J Virol
Gong S, Park D, Chung W-C, Ahn J-H.
europepmc   +1 more source