Results 151 to 160 of about 38,036,070 (284)
We present the case of successful endovascular abdominal aortic aneurysm repair (EVAR) in a 55-year-old male who presented with a ruptured infrarenal aortic pseudoaneurysm, formed after spontaneous avulsion of the inferior mesenteric artery. The avulsion
Nikolaos Krinos +16 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2454-2463, November 2026.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Malignancy in Neurofibromatosis Type 1
The Oncologist, 2000 Abstract Neurofibromatosis type 1 (NF1) represents a major risk factor for development of malignancy, particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemias. The oncologist will see NF1 patients referred for treatment of malignancy, and should be alert to the possibility of undiagnosed ...
openaire +2 more sources
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2443-2453, November 2026.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Maximizing Neurovascular Outcomes of Facial Transplantation: A Comprehensive Review
Clinical Anatomy, Volume 39, Issue 8, Page 965-979, November 2026.ABSTRACT Facial transplantation is a division of reconstructive surgery which aims to improve the function and appearance of a face that has endured severe disfigurement. Currently, the face transplant procedure uses allogenic tissue, harvested from a brain‐dead donor, to replace damaged facial components.
Olivia A. James, Faye Bennett
wiley +1 more source
Clinical Genetics, Volume 110, Issue 5, Page 527-537, November 2026.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
ISCHEMIC RETINOPATHY IN NEUROFIBROMATOSIS TYPE 1
, 2015 PURPOSE: To describe a patient with severe ischemic retinopathy and maculopathy in the context of neurofibromatosis Type 1. METHODS: Case report illustrated with multimodal clinical imaging.
Freund, K. B. +4 more
core +1 more source
Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea
Cell Biology International, Volume 50, Issue 10, October 2026.ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco +6 more
wiley +1 more source