Results 171 to 180 of about 125,272 (358)

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Insights into the Controlled Formation of Zr‐Based Metal–Organic Gels: Linking Macroscopic Properties with Molecular Information from Solution State NMR

Angewandte Chemie, EarlyView.
Real time STD/SDTD NMR unveils water structuring during UiO‐66 gelation under mild, acid‐free conditions compatible with biomolecule encapsulation. This approach bridges molecular‐scale solvent ordering with macroscopic gel properties, unlocking mechanistic insight for the rational design of MOF gels.
Juan C. Muñoz‐García, Francisco G. Moscoso, Elena M. Sánchez‐Fernández, Jenifer Santos, Jesús Angulo, Carolina Carrillo‐Carrión   +5 more
wiley   +2 more sources

Explosive volcanism, shock metamorphism and the K-T boundary [PDF]

The issue of whether shocked quartz can be produced by explosive volcanic events is important in understanding the origin of the K-T boundary constituents.
Desilva, S. L., Sharpton, V. L.
core   +1 more source

EQUATIONS FOR THE INCORPORATION OF RADIOACTIVITY DUE TO THE LINEAR GROWTH OF TOBACCO MOSAIC VIRUS

, 1962
J. Townsend
openalex   +2 more sources

Jumbled Mosaics: Exploring Intracategorical Complexity in the Memoirs of Jewish Austrian (Youth) Emigrants to the United States

, 2020
Corbett
openalex   +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

Nanoparticle‐Based Tolerogenic Vaccines: Next‐Generation Strategies for Autoimmune and Allergic Disease Therapies

Angewandte Chemie, EarlyView.
Nanoparticle‐based tolerogenic vaccines harness controlled antigen delivery and immunomodulation to establish tolerance in autoimmunity and allergy. This review outlines how nanoparticle design (size, shape, composition, administration route) influences biodistribution and immune‐cell targeting.
Benjamin E. Nachod, Ajay S. Thatte, Rohan Palanki, Michael J. Mitchell   +3 more
wiley   +2 more sources

Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area. [PDF]

Front Genet
Zhou M, Zhang H, Wen J, Liu N, Wu Z, Lin T, Tang M, Huang Y, Xiao Y, Xie H, Ouyang X, Xiao X, Deng L, Chen N, Zeng A, Peng J.   +15 more
europepmc   +1 more source

Luminescence petrography of lunar samples [PDF]

Light-colored metaclastic rock fragments, mainly anorthositic breccias, are dominant in the lithic clasts of rock 14321 and constitute about 25% of the Apollo 14 soils.

core   +1 more source