Results 151 to 160 of about 248,421 (302)

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

Anterior or posterior peroral endoscopic myotomy: anatomy may matter more than orientation. [PDF]

Clin Endosc
Kim Y, Youn YH.
europepmc   +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

Bile aspiration during emergent revision of a single-anastomosis gastric (SASI) bypass to a Roux-en-Y configuration with transit bipartition: a case report. [PDF]

J Surg Case Rep
Salgado ME, Guevara C, Carvajal G, Zapata Jaramillo G, Salgado Macías N.   +4 more
europepmc   +1 more source

Clinical Outcomes, Risks, and Individualized Treatment Selection in Revisional Metabolic and Bariatric Surgery: A Narrative Review. [PDF]

Health Sci Rep
Ebrahimian Jektaji R, Moghaddam Ahmadi M, Shokrgozar L, Moghaddam Ahmadi M.   +3 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Breakthrough Design of Highly Potent Antivirals Against Wild‐Type HIV‐1 and Lenacapavir‐Resistant M66I Variant

Angewandte Chemie, EarlyView.
Lenacapavir, the first‐in‐class drug targeting HIV‐1 capsid, is a breakthrough drug in HIV‐1 treatment and prophylaxis. However, a single M66I mutation confers complete viral resistance to lenacapavir. We report herein the design and synthesis of innovative R2 analogs demonstrating low nM potency against HIV‐1 M66I and excellent pharmacokinetics in ...
Nicolas Jamey, D. M. Nirosh Udayanga, Huanchun Zhang, Roshan Katekar, Wei Xie, Shreya M. Ravichandran, Xinyong Cai, Zachary C. Lorson, William M. McFadden, Won Hee Ryu, Jiashu Xie, Karen A. Kirby, Stefan G. Sarafianos, Zhengqiang Wang   +13 more
wiley   +2 more sources

Preoperative Hill grade versus hiatal hernia size: which drives the decision for Dor fundoplication during sleeve gastrectomy? A retrospective cohort study. [PDF]

Front Surg
Du X, Dong H, Liu D.
europepmc   +1 more source

Clinical significance of laryngopharyngeal reflux in patients with chronic obstructive pulmonary disease

, 2015
Young Ho Jung,1* Doh Young Lee,2* Dong Wook Kim,1 Sung Soo Park,3 Eun Young Heo,3 Hee Soon Chung,3 Deog Kyeom Kim3 1Department of Otorhinolaryngology-Head and Neck Surgery, Seoul Metropolitan Government-Seoul National University Boramae Medical Center ...
Kim DW, Lee DY, Park SS, Chung HS, Jung YH, Heo EY, Kim DK   +6 more
core  

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source