Results 181 to 190 of about 962,870 (283)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Refractive Index Engineering for Human Corneal Tissue by Femtosecond Laser Two-Photon Cross-Linking. [PDF]

J Biophotonics
Qi P, Zhou Z, An J, Liu H, Zhang Y, Liu H, Chang L, Wu Y, Wang Y, Kosareva O, Savel'ev A, Lin L, Liu W.   +12 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Refractive and Visual Outcomes of SmartSight NOVA Refractive Lenticule Extraction for Myopia and Myopic Astigmatism at 3 Months: a Retrospective Case Series. [PDF]

Ophthalmol Ther
Keum JE, Yoo TK, Kim JC, Kim JH.
europepmc   +1 more source

Are there morpho‐acoustic patterns of adaptation in nonhuman primate ears? Testing the role of ecology and habitat in shaping ear morphology and function

The Anatomical Record, EarlyView.
Abstract Analysis of the variation in the bony structures of the inner and middle ear provides critical insights into functional morphology, as well as adaptive morphology across primates. In this study, we investigated whether ear morphology patterns are related to the ecological characteristics of species and their habitats to test two acoustic ...
Myriam Marsot, Rémi Laffont, Émilie Steimetz, Patricia Balaresque, Sébastien Couette   +4 more
wiley   +1 more source

Commentary: Evolving trends in contact lens practice in India - Insights from a decade-long experience at a tertiary eye care center. [PDF]

Indian J Ophthalmol
Bhuwalka A, Ghosh A, Barik U, Mishra P, Priyadarshini SR.   +4 more
europepmc   +1 more source

Microvascular and acute complications in IDDM patients: The EURODIAB IDDM Complications Study

, 1994
FOSSARELLO, MAURIZIO, Eurodiab IDDM Complications Study Group   +1 more
core  

A detailed redescription of a skeletally immature ‘Redondasaurus’ suggests ontogenetic transformations in the taxon mirror phytosaurian morphological evolution

The Anatomical Record, EarlyView.
Abstract The study of morphological evolution is fundamentally tied to ontogeny, yet studies of these heterochronic processes in the fossil record are rare. Fossils belonging to an ontogenetic series are difficult to assign to an ontogenetic stage due to inconsistent proxies for skeletal ages, challenging to taxonomically assign due to morphological ...
Erika R. Goldsmith, Michelle R. Stocker
wiley   +1 more source

Use of corneal allogenic intrastromal ring segments (CAIRS) in high astigmatism, a case report. [PDF]

Am J Ophthalmol Case Rep
Khayat B, Alabbasi OM, Aljohani G.
europepmc   +1 more source