Results 31 to 40 of about 12,566 (189)

The association of “Neurofibromatosis-1, congenital pseudarthrosis of the Tibia and type 1 DM” report of two cases and literature review

Journal of Orthopaedic Reports
Background: Neurofibromatosis type 1 (NF1) is a relatively common disorder and is typically diagnosed clinically. NF1 is commonly associated with different autoimmune diseases. The association between NF1 and Type 1DM is rarely reported in the literature.
Mahmoud A. El-Rosasy, Abdullah Khaled, Amr M. Elrosasy, Heba Dawoud   +3 more
doaj   +1 more source

Examining Demographic and Clinical Traits in Neurofibromatosis Type 1 Patients: Insights into Vitamin D Levels and Connections with Nevus Anemicus and Neurofibromas

Indian Journal of Dermatology
Aim: This article aims to examine the demographic and clinical traits of neurofibromatosis type 1 (NF1) patients, particularly focusing on the potential links between vitamin D levels, BMI, and dermatological features.
Vahid Ahmadi, Nazli Karimi, Arsoy S. Evans, Ayşen Karaduman   +3 more
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Neurofibromatosis Type 1 Presenting with Plexiform Neurofibromas in Two Patients: MRI Features

Case Reports in Medicine, 2012
Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen’s disease, is one of the most common genetic disorders. It is inherited in an autosomal dominant pattern.
Ahmet Mesrur Halefoglu
doaj   +1 more source

Oligodendrocyte Nf1 Controls Aberrant Notch Activation and Regulates Myelin Structure and Behavior

Cell Reports, 2017
Summary: The RASopathy neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. In NF1 patients, neurological issues may result from damaged myelin, and mice with a neurofibromin gene (Nf1) mutation show white matter
Alejandro López-Juárez, Haley E. Titus, Sadiq H. Silbak, Joshua W. Pressler, Tilat A. Rizvi, Madeleine Bogard, Michael R. Bennett, Georgianne Ciraolo, Michael T. Williams, Charles V. Vorhees, Nancy Ratner   +10 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1

Balkan Journal of Medical Genetics, 2018
Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in the NF 1 gene causes NF1. The NF
Yang J, An J-X, Liu X-L, Wang Z-Q, Xie G-M, Yang X-L, Xu S-J, Feng F, Ni Y   +8 more
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
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, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

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, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1

JID Innovations
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous syndrome caused by pathogenic alterations in the tumor suppressor protein neurofibromin.
Nidhi Kuchimanchi, Renee M. McKay, Lu Q. Le   +2 more
doaj   +1 more source