Results 151 to 160 of about 328,264 (242)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Glycan microarray analysis of <i>Candida</i>-related antibodies in human and mice sera guides biomarker discovery and vaccine development. [PDF]

Proc Natl Acad Sci U S A
Reuber EE, Hickey E, Pradhan A, Sprute R, Lingscheid T, Tober-Lau P, Leaves I, Stappers MHT, Kurth F, Bruno M, Netea MG, Sander LE, Cornely OA, Gow NAR, Brown AJP, Singh RK, Omoregbee-Leichnitz S, Sletten ET, Danglad-Flores J, Seeberger PH.   +19 more
europepmc   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases. [PDF]

Mol Syndromol
Esener Z, Ates K, Ozturk M, Karakurt C, Elkiran O, Tekedereli I.   +5 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

From Covalent Traps to Fluorescent Beacons: The Expanding Arsenal of Chemical Probes for Studying Ubiquitin and Ubiquitin‐Like Proteins

Angewandte Chemie, EarlyView.
A large variety of chemistry‐based ubiquitin probes have been developed. ABSTRACT Ubiquitin (Ub) and ubiquitin‐like proteins (Ubls) orchestrate diverse cellular processes through reversible post‐translational modification of target proteins. Their conjugation is governed by a cascade of E1 activating, E2 conjugating, and E3 ligating enzymes, while ...
Saibal Chanda, Wenshe Ray Liu
wiley   +2 more sources

A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis. [PDF]

Prenat Diagn
Yin Y, He Y, Chen C, He Y, Wang J, Qin S, Wang H, Ma K, Hu D, Xiao R, Wang G, Wang X.   +11 more
europepmc   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Visualizing and Quantifying microRNA‐Induced DNA Origami Separation at the Nanoscale

Angewandte Chemie, EarlyView.
Clinically relevant miRNA biomarkers trigger the disassembly of DNA origami dimers into monomers through a toehold‐mediated strand displacement reaction. High‐speed AFM was used to visualize this reaction in real time, while solid‐state nanopore measurements quantified the populations of dimers and monomers, as well as the resulting miRNA concentration,
Chalmers C. C. Chau, Varun Gupta, George R. Heath, Christoph Wälti, Paolo Actis   +4 more
wiley   +2 more sources