Results 41 to 50 of about 1,775 (150)

Reporte de familias con neurofibromatosis y otras enfermedades genéticas Reports of families suffering from neurofibromatosis and other genetic disorders

Revista de Ciencias Médicas de Pinar del Río, 2011
La neurofibromatosis tipo 1, es una enfermedad genética que primariamente afecta el desarrollo y crecimiento celular del sistema nervioso, clínicamente se caracteriza por máculas café con leche, neurofibromas, pecas en regiones no expuestas al sol ...
Miladys Orraca Castillo, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
doaj  

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

Neurofibromatosis de von Recklinghausen en la niñez Von Recklinghausen's neurofibromatosis in the childhood

Medisan, 2010
Se presenta el caso clínico de una niña argelina de 7 años de edad, con exoftalmos del ojo derecho de 3 años de evolución, que acudió a la consulta externa del Hospital Oftalmológico "Amistad Argelia-Cuba" de la Willaya de Djelfa en la República ...
Guillermo Manuel Vaillant Suárez, Gabriela Pereira Gómez   +1 more
doaj  

Evolutionary dynamics of insertion sequences in relation to the evolutionary histories of the chromosome and symbiotic plasmid genes of Rhizobium etli populations [PDF]

, 2010
Insertion sequences (IS) are mobile genetic elements that are distributed in many prokaryotes. In particular, in the genomes of the symbiotic nitrogen-fixing bacteria collectively known as rhizobia, IS are fairly abundant in plasmids or chromosomal ...
Bustos, Patricia, Davila, Guillermo, Gonzalez, Victor, Hernandez-Gonzalez, Ismael, Lozano, Luis, Santamaria, Rosa I., Souza, Valeria, Young, J. Peter W.   +7 more
core   +2 more sources

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

Síndrome de moyamoya associada a neurofibromatose tipo I em paciente pediátrico [PDF]

, 2011
CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range ...
DARRIGO JÚNIOR, Luiz Guilherme, MACHADO, André de Aboim, SANTOS, Antonio Carlos dos, SCRIDELI, Carlos Alberto, TONE, Luiz Gonzaga, VALERA, Elvis Terci   +5 more
core   +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

Neurofibromatosis (von Recklinghausen's disease) - An unusual cause of parenchymal lung disease : a case report [PDF]

, 1984
CITATION: Hardcastle, S. W. & Hendricks, M. L. 1984. Neurofibromatosis (von Recklinghausen's disease) - An unusual cause of parenchymal lung disease : a case report. South African Medical Journal, 66:959-960.The original publication is available at http:/
Hardcastle, S. W., Hendricks, M. L.
core  

Malignant peripheral nerve sheath tumor of the breast: case report [PDF]

, 2007
Background Malignant peripheral nerve sheath tumor is a rare soft tissue sarcoma of ectomesenchymal origin. It is the malignant counterpart of benign soft tissue tumors like neurofibromas and schwannomas and may often follow them.
Kajal Kiran Dhingra, Shramana Mandal, Somak Roy, Nita Khurana, SW Weiss, BS Ducatman, RE Ferner, C Thanapaisal, H Medina-Franco, R Berrada, I Besznyak, S Malas, H Hauser, BS Ducatman, MD Johnson, JC Yang   +15 more
core   +2 more sources