Results 171 to 180 of about 696,542 (300)

Right insular glioma in right-handed patient with bilateral language dominance: a multimodal guided awake craniotomy. Illustrative case. [PDF]

J Neurosurg Case Lessons
Garcia DM, Pelargos P, Leuthardt EC, Fessler AJ, Glasser MF, Zipfel GJ, Mathios D.   +6 more
europepmc   +1 more source

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

Morphological variations of the dural venous sinuses: a cadaveric study. [PDF]

Front Surg
Kamaşak Arpaçay B, Aycan K.
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Accesibilidad cognitiva: una herramienta para la inclusión de las personas con daño cerebral adquirido. Versión en lectura fácil

Este documento será útil para organizaciones y profesionales que quieran mejorar la accesibilidad cognitiva de sus espacios y documentos, para personas con daño cerebral adquirido.

core  

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Asymmetric Optic Disc Edema in Astronauts: A Narrative Review Proposing an Interplay Between Ocular Venous Congestion and Glymphatic Transport. [PDF]

Life (Basel)
Wostyn P, Nedergaard M, Gibson CR, Mader TH.   +3 more
europepmc   +1 more source

Penetrating injuries of the posterior dural venous sinuses: a systematic review of injury mechanisms and repair techniques. [PDF]

Front Neurol
Qureshi K, Yangi K, Gok E, Olson JT, Prince JE, Goyal M, Preul MC.   +6 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Hemispheric consistency in language production, comprehension, and reading in typically and atypically lateralized left-handers: Implications for reading performance. [PDF]

Imaging Neurosci (Camb)
Villar-Rodríguez E, Baena-Pérez M, Cano-Melle C, Nicolae A, Marin-Marin L, Avila C.   +5 more
europepmc   +1 more source