Results 311 to 320 of about 483,667 (360)

Von Hippel-Lindau Disease with Multiple Spinal Cord Hemangioblastomas, Syringomyelia and Pheochromocytoma.

, 1995
Hisashi Furusu, Hidenori Matsuo, Kazuhiko Nakao, Yasuo Ueda, Wataru Aoi   +4 more
openalex   +2 more sources

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

A Novel International Endoscopic Sphenoid Surgery Classification (IESSC): A Delphi Consensus

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Advancements in endoscopic sinus and skull base surgery created a need for standardized terminology to describe sphenoid sinus surgery. Although classification systems exist for other sinuses, one for endoscopic sphenoid sinus surgery is lacking.
Hussain Albaharna, Abdulaziz Alrasheed, Abdulaziz AlQahtani, Alkis J. Psaltis, Amin Javer, Cem Meco, Christos Georgalas, Eric W. Wang, Isam Alobid, Kazuhiro Omura, Luis Fernando Macias‐Valle, Marc Tewfik, Narayanan Prepageran, Paolo Battaglia, Paolo Castelnuovo, Ricardo Carrau, Richard Douglas, Richard Harvey, Roy R. Casiano, Shahzada Ahmed, Saad Alsaleh   +20 more
wiley   +1 more source

Closing the diagnostic gap: A narrative review of recent advances in functional MRI diagnostics in spinal cord injury. [PDF]

Brain Spine
Entenmann CJ, Kersting K, Vajkoczy P, Zdunczyk A.   +3 more
europepmc   +1 more source

FDA Recalls of Image Guidance Systems for Sinus and Skull Base Surgery, 2003–2024

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Surgeons use stereotactic image guidance systems (IGS) to help navigate complex anatomy. However, the FDA has received reports of IGS malfunction linked to operative delays and complications. We investigated FDA recalls of IGS between 2003 and 2024.
Thriaksh Rajan, Rodney J. Schlosser, Zachary M. Soler, Patrick Walz, Kyle C. Wu, Ralph B. Metson, Stacey T. Gray, Alan D. Workman, Vinay K. Rathi   +8 more
wiley   +1 more source

Senility, defecation disorders, sleep disorders, and non-operative spinal infections: A single-center retrospective analysis. [PDF]

World J Orthop
Guo LL, Liu HK, Cao JF, Zhang HX, Li B, Li T, Li L.   +6 more
europepmc   +1 more source

Molecular Profiling and Tumor Microenvironment in Sinonasal Mucosal Melanoma as Biomarkers for Enhanced Prognostic Stratification

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Sinonasal mucosal melanoma (SNMM) is a rare and aggressive melanoma subtype with a notably poor prognosis. Despite molecular characterization advances, SNMM remains clinically challenging, highlighting the need for detailed molecular profiling.
Manuel Molina‐Garcia, Maria Jesus Rojas‐Lechuga, Cristobal Langdon, Judit Mateu, Jaume Bague, Teresa Torres, Vinicius G. de Souza, Manuel Bernal‐Sprekelsen, Isam Alobid, Rui Milton Patricio da Silva‐Júnior, Susana Puig   +10 more
wiley   +1 more source