Results 31 to 40 of about 1,775 (150)

Emerging genotype-phenotype relationships in patients with large NF1 deletions. [PDF]

, 2017
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions).
Cooper, David N, Kehrer‑Sawatzki, Hildegard, Mautner, Victor‑Felix   +2 more
core   +2 more sources

Presentation and Outcomes of CNS Tumors Associated With Phakomatoses Syndromes From a Specialized Neuro‐Oncology Practice in India

Cancer Medicine, Volume 15, Issue 2, February 2026.
Encouraging survival is achieved in phakomatosis syndromes with conventional multimodality treatment (Surgery, RT, chemotherapy). There is an urgent need for easily administered systemic therapies which improve both quality and quantity of life. ABSTRACT Purpose Phakomatoses‐associated primary central nervous system (CNS) tumors are therapeutically ...
Anuradha Krishnan, Yamini Baviskar, Abhishek Chatterjee, Archya Dasgupta, Sridhar Epari, Arpita Sahu, Girish Chinnaswamy, Nandini Menon, Aliasgar Moiyadi, Tejpal Gupta, Jayant Sastri‐Goda   +10 more
wiley   +1 more source

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT‐Like Syndromes: A Comparative Overview

European Journal of Neurology, Volume 33, Issue 2, February 2026.
Hereditary hemorrhagic telangiectasia (HHT) and several HHT‐like syndromes, including Wyburn–Mason, Cobb, Klippel–Trénaunay, Parkes Weber, neurofibromatosis type 1, PHACE(S), capillary malformation–AVM (CM‐AVM), Juvenile polyposis/HHT overlap, HHT type 5, PTEN hamartoma tumor syndrome, and blue rubber bleb nevus syndrome, share overlapping ...
Matteo Palermo, Carmelo Lucio Sturiale
wiley   +1 more source

Cervical Intranodal Schwannoma and Its Malignant Transformation: A Case Report With Literature Review

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT This case report highlights a rare malignant transformation of a cervical intranodal schwannoma in a 46‐year‐old man. The patient first came in with a slow‐growing, painless nodule in the right neck. Surgical excision was performed and histopathological examinations revealed a benign intranodal cellular schwannoma.
Shahab Hussain, Zia Ullah Khan, Nazneen Liaqat, Syed Wajihullah Shah, Kainat Khan, Jibran Ikram   +5 more
wiley   +1 more source

Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision‐making processes

Journal of Genetic Counseling, Volume 34, Issue 6, December 2025.
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision‐making and pregnancy care particularly complex. While previous research has focused largely on clinical outcomes, little is known about how healthcare professionals (HCPs) provide care and ...
Gamze Kaplan, Debbie M. Smith, Ming Wai Wan, Emma Burkitt‐Wright, Shruti Garg   +4 more
wiley   +1 more source

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

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

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