Results 31 to 40 of about 1,042 (103)

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni   +13 more
wiley   +1 more source

Alternative Splicing of Exon 23a in Neurofibromatosis Type 1 Pre‐mRNA: Its Contribution to the Protein Structure and Function of Neurofibromin

WIREs RNA, Volume 16, Issue 4, July/August 2025.
Isoform I and II of neurofibromin differ in the inclusion of exon 23a and their ability to regulate membrane‐bound RAS and consequent downstream pathways. It is predicted that the insertion of exon 23a disrupts trafficking of the protein to the membrane and/or with RAS itself. ABSTRACT The neurofibromatosis type 1 (NF1) gene has 61 exons.
Annabelle G. Elsner Pacheco, Hua Lou
wiley   +1 more source

Caracterización clínica de pacientes con neurofibromatosis segmentaria Clinical characterization of patients with segmental neurofibromatosis

Revista de Ciencias Médicas de Pinar del Río, 2012
La neurofibromatosis tipo 1 es la enfermedad monogénica más frecuente en la especie humana. En su clasificación se describe la variante segmentaria como forma clínica especial, poco frecuente, caracterizada por máculas "café con leche" o neurofibromas ...
Miladys Orraca Castillo, Anitery Travieso Téllez   +1 more
doaj  

Clinicopathologic Characteristics and Prognostic Profile of Chronic Myeloid Neoplasms With Somatic NF1 Mutations in Adult Patients

European Journal of Haematology, Volume 115, Issue 1, Page 46-56, July 2025.
ABSTRACT Objectives The clinicopathologic and prognostic features of somatic NF1 mutations have been well studied in pediatric myeloid neoplasms and adult acute myeloid leukemia (AML) but not in adult chronic myeloid neoplasms (CMNs), including myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), and myelodysplastic/myeloproliferative ...
Hamza Tariq, Margarita Loxas, Mir B. Alikhan, Juehua Gao, Xinyan Lu, Qing Ching Chen, Yi‐Hua Chen, Jessica K. Altman, Lawrence J. Jennings, Madina Sukhanova   +9 more
wiley   +1 more source

Family history does not influence stress or major coping styles in adults with neurofibromatosis type 1

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Neurofibromatosis type 1 (NF1) is a genetic condition that affects about 1 in 3000 individuals. Approximately 50% of individuals with NF1 have a family history of the condition. Individuals with NF1 experience variable symptoms that contribute to increased stress.
Mikaela Bradley, Ashley Cannon, Bryce Brown, Kelly Taylor, Paul Moots, Emily McQuillen   +5 more
wiley   +1 more source

The Interconnected World of Dermatology and Ophthalmology

JEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.
Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore, Surajit Gorai, Gitikash Purkayastha, Kinnor Das, Prajwal Pudasaini   +4 more
wiley   +1 more source

Mirdametinib (Gomekli) wins FDA approval, bringing relief to NF‐1 patients with surgically inoperable plexiform neurofibromatosis worldwide

Malignancy Spectrum, Volume 2, Issue 3, Page 171-172, September 2025.
Memuna J. Zeb
wiley   +1 more source

Neurofibromatosis Type 1 with Plexiform Neurofibroma: A Novel Mutation Uncovered. [PDF]

Rom J Ophthalmol
Garg P, Garg S, Shukla A, Shukla R, Shrinkhal.   +4 more
europepmc   +1 more source

Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1. [PDF]

J Clin Med
Kerekes K, Boostani M, Metyovinyi Z, Kiss N, Medvecz M.   +4 more
europepmc   +1 more source

Coexisting Optic Pathway and Posterior Fossa Gliomas in an Adult With Previously Undiagnosed Neurofibromatosis Type 1. [PDF]

Cureus
Pinto C, Santos AP, Faia J, Pinheiro IS, Martins AS.   +4 more
europepmc   +1 more source