Results 51 to 60 of about 49,367 (248)
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.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
Somatostatinoma of the Vater's papilla in a patient with von Recklinghausen's disease [PDF]
Vojnosanitetski Pregled, 2007 Background. Somatostatinomas of the gastrointestinal tract secret hormone somatostatin which can cause "inhibitory syndrome" comprising diabetes mellitus, cholelithiasis and steatorrheic diarrhea.
Čolović Radoje +3 more
doaj +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
European Journal of Human Genetics, 2006 Neurofibromatosis 1 predisposes affected individuals to the development of benign and malignant tumours that are frequently disfiguring and difficult to manage. However, advances in molecular biology and the development of mouse models have facilitated our understanding of disease pathogenesis.
openaire +2 more sources
Animal Models and Experimental Medicine, EarlyView.This study comprises three experimental parts. Part 1. Time‐course of ouabain‐induced hearing loss. Rats received ouabain (10 mM) via round window application. ABR/DPOAE tests and histological analyses were performed at 2, 7, and 30 days post‐treatment to characterize SGN and glial cell degeneration. Part 2.
Huidong Chen +9 more
wiley +1 more source
, 2011 Neurofibromatosis 1 and 2 have historically been grouped together. However they represent two distinct diseases separated both genetically and clinically.
George Tharakan
core +1 more source
Orbitotemporal Neurofibromatosis: Case Report [PDF]
, 2012 Plexiform neurofibromas occur in about 60% of neurofibromatosis type 1(NF-1) patients and can lead to severe morbidity by disfigurement or compression of vital structures. Moreover, these tumors can undergo malignant transformation.
Goutham Cugati +2 more
core +1 more source
Maximizing Neurovascular Outcomes of Facial Transplantation: A Comprehensive Review
Clinical Anatomy, EarlyView.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
Scientific ReportsThe study aimed to evaluate intracranial pressure (ICP) in NF2-associated meningiomas using perioperative optic nerve sheath diameter (ONSD) measurements.
Julian Zipfel +6 more
doaj +1 more source
A Case of Neurofibromatosis Type 1 Complicated with Repeated Intracerebral Hemorrhage due to Quasi-Moyamoya Disease [PDF]
, 2015 Moyamoya disease (MMD) is a unique occlusive disease of the bilateral internal carotid arteries with moyamoya vessels. Inherited or acquired disorders and conditions may present in conjunction with MMD. This condition is known as quasi-MMD.
Izumo, Tsuyoshi +3 more
core +1 more source