Results 141 to 150 of about 306,813 (286)

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

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

SnRNA-seq reveals cellular heterogeneity and proliferation mechanisms in limb venous malformations. [PDF]

Animal Model Exp Med
Lin J, Liu T, Fang B, Feng X, Jiao W, Chen C, Ding Y, Zhu G, Wang W, Liu W, Li Y, Hou S, Wei J, Qiao J.   +13 more
europepmc   +1 more source

Walsh & Hoyt: Vascular Malformations

, 2005
Vascular malformations are congenital anomalies. Many are asymptomatic but some produce neurologic findings. Neuro-ophthalmic manifestations may result from direct compression, altered blood flow, increased intracranial pressure, or hemorrhagic ...
Andrew Lee, MD
core  

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Efficacy and influencing factors of percutaneous sclerotherapy for venous malformations of the knee in children. [PDF]

Front Pediatr
Liu Z, Zhang X, Wang L, Li J, Song D.
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Venous malformations involving the buccal fat pad: anatomical extension patterns and management implications. [PDF]

Front Neurol
Zhang Y, Liang J, Liu M, Liu M, Liu Y.
europepmc   +1 more source

Translational Macrophage Mechano‐Immunotherapy for Next‐Generation Implantable Biomaterials

Advanced NanoBiomed Research, EarlyView.
This review explores how macrophage mechanosensing drives inflammation, fibrosis and foreign body responses to implanted biomaterials. It examines emerging pharmacological strategies to modulate mechanotransduction, alongside biomaterial platforms for localised drug delivery, clinical translation, regulatory considerations and standardised testing ...
Xueying Xu, Ian L. Chin, Richard P. Tan
wiley   +1 more source

Slow-flow, high-impact: radiologic features in venous malformations of the female genital tract. [PDF]

Insights Imaging
Guihard M, Fraissenon A, Collardeau-Frachon S, Bringuier PP, Bolze PA, Guibaud L, Rousset P.   +6 more
europepmc   +1 more source