Results 41 to 50 of about 1,786 (148)

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis [PDF]

, 2010
Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant ...
German Melean, Alba Marina Hernández, María Carmen Valero, Elisabete Hernández-Imaz, Yolanda Martín, Concepción Hernández-Chico   +5 more
core   +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  

Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1 [PDF]

, 1997
Objective. To establish the prevalence of endocrinologic disorders in children with neurofibromatosis type 1 (NF1) and the relationship between these disorders and cerebral abnormalities on magnetic resonance imaging. Design.
Cnossen, M.H. (Marjon), Cooiman, L.C.M.G. (Linda C. M. G.), Goede-Bolder, A. (Arja) de, Halley, D. (Dicky), Muinck Keizer-Schrama, S.M.P.F. (Sabine) de, Niermeijer, M.F. (Martinus), Oranje, A.P. (Arnold), Simonsz, H.J. (Huib), Stam, E.N. (Esther N.), Stroink, H. (Hans)   +9 more
core   +1 more source

Colorectal cancer in a 13‐year‐old with constitutional mismatch repair deficiency and MUTYH heterozygosity

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, Caroline Chinchilla Putzeys, Brianna Pruniski, Paul Tran   +3 more
wiley   +1 more source

Progressive Cone‐Rod Synaptic Dysfunction in Dynamin‐1 ( DNM1 ) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human

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, Eleanor Hay, Richard Bowman, Dorothy A. Thompson   +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, 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

Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family [PDF]

, 2016
PURPOSE: To describe the clinical signs of gelatinous drop-like corneal dystrophy (GDLD) in a consanguineous Colombian family and determine the underlying genetic cause.
Cuevas, M, Davidson, AE, Evans, CJ, Hardcastle, AJ, Linares, AR, Morantes, S, Tuft, SJ, Valencia, AV   +7 more
core   +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

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

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) [PDF]

, 2018
In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)—and questionnaire-based screening instrument were assessed.
Catsman-Berrevoets, C.E. (Coriene), Dieleman, G.C. (Gwen), Dierckx, B. (Bram), Eijk, S. (S.), Elgersma, Y. (Ype), Hoopen, L.W. (Leontine) ten, Legerstee, J.S. (Jeroen), Mous, S.E. (Sabine), Nijs, P.F.A. (Pieter) de, Oostenbrink, R. (Rianne), Rietman, A.B. (André), Thornton, A.S. (Andrew)   +11 more
core   +2 more sources