Results 41 to 50 of about 61,198,315 (136)
High Grade Dysplastic Rectal Adenoma in a Young Patient With Café‐Au‐Lait Spots: A Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Colorectal cancer screening guidelines typically focus on familial history and age‐related risk factors, yet Café‐au‐lait macules could serve as early indicators for tailored surveillance protocols. This case underscores the importance of considering extracolonic manifestations in young patients presenting with colorectal symptoms.
Ali Hamdan +4 more
wiley +1 more source
Effects of graphite nodules on crack growth behaviour of austempered ductile iron [PDF]
, 2007 Austempered ductile iron (ADI) is a candidate material for camshafts, where however, the early stages of fatigue damage are of major concern during service.
Reed, P.A.S., Gao, N., Stokes, B.
core +1 more source
Solitary Neurofibroma of the Hypopharynx: A Case Report
Clinical Case Reports, Volume 14, Issue 6, June 2026.
Matin Ghazizadeh, Vahid Ghasem Amooeian
wiley +1 more source
JPGN Reports, Volume 6, Issue 3, Page 288-291, August 2025.Abstract Constitutional mismatch repair deficiency (CMMRD) is a rare hereditary cancer syndrome resulting from biallelic mutations in DNA mismatch repair (MMR) genes that lead to early‐onset cancers in children, including lymphoma and colorectal cancer (CRC).
Chloe J. Cohan +3 more
wiley +1 more source
Clinical Genetics, Volume 108, Issue 2, Page 194-198, August 2025.Variants in the DNM1 gene cause a progressive cone‐rod synaptic dysfunction, evidenced by the electroretinogram. This is due to retinal synaptic abnormality due to poor endocytic scission of synaptic buds at the synapse consequent on Dynamin‐1 abnormalities.
Oliver R. Marmoy +3 more
wiley +1 more source
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 +13 more
wiley +1 more source
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 +1 more
doaj
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
Transillumination - Lisch Nodules
, 1986 Demonstration of transillumination of the Lisch nodules on a patient with neurofibromatosis. Shows how Lisch nodules that were not very visible in slit-lamp examination are better seen with transillumination, which may therefore be useful in detecting ...
Kathleen B. Digre, MD
core
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 +9 more
wiley +1 more source