Results 41 to 50 of about 15,366 (199)

Supplementary Tables 1-4 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type 1

, 2007
Supplementary Tables 1-4 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type
Janine Wechsler (14975875), Pierre Wolkenstein (582843), Béatrice Parfait (14975872), Karen Leroy (111829), Michel Vidaud (188105), Nicolas Ortonne (1386645), Philippe Dessen (17293), Pascale Lévy (14975869), Isabelle Salmon (33964), Ivan Bièche (3898000), Hugues Ripoche (60057), Vladimir Lazar (60054), Dominique Vidaud (3434459), Ingrid Laurendeau (3434453)   +13 more
core   +1 more source

Detection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis using aneuploidy and mutation identification in plasma

eLife, 2022
Malignant peripheral nerve sheath tumors (MPNST) are the deadliest cancer that arises in individuals diagnosed with neurofibromatosis and account for nearly 5% of the 15,000 soft tissue sarcomas diagnosed in the United States each year.
Austin K Mattox, Christopher Douville, Natalie Silliman, Janine Ptak, Lisa Dobbyn, Joy Schaefer, Maria Popoli, Cherie Blair, Kathy Judge, Kai Pollard, Christine Pratilas, Jaishri Blakeley, Fausto Rodriguez, Nickolas Papadopoulos, Allan Belzberg, Chetan Bettegowda   +15 more
doaj   +1 more source

Supplementary Figures 1-3 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type 1

, 2007
Supplementary Figures 1-3 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type
Janine Wechsler (14975875), Pierre Wolkenstein (582843), Béatrice Parfait (14975872), Karen Leroy (111829), Michel Vidaud (188105), Nicolas Ortonne (1386645), Philippe Dessen (17293), Pascale Lévy (14975869), Isabelle Salmon (33964), Ivan Bièche (3898000), Hugues Ripoche (60057), Vladimir Lazar (60054), Dominique Vidaud (3434459), Ingrid Laurendeau (3434453)   +13 more
core   +1 more source

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes

, 2021
Neurofibromatosis type 1 (NF1), type 2 (NF2), and schwannomatosis are a group of autosomal dominant disorders that predispose to the development of nerve sheath tumors. Pathogenic variants (PVs) that cause NF1 and NF2 are located in the NF1 and NF2 loci,
Perez‐Becerril, Cristina, Evans, D. Gareth; id_orcid, Smith, Miriam J.; id_orcid   +2 more
core   +1 more source

An Update on the Ophthalmologic Features in the Phakomatoses

Journal of Ophthalmology, 2016
Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant ...
Solmaz Abdolrahimzadeh, Andrea Maria Plateroti, Santi Maria Recupero, Alessandro Lambiase   +3 more
doaj   +1 more source

Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1 [PDF]

Cancer predisposition syndromes mediated by recessive cancer genes generate tumors via somatic variants (second hits) in the unaffected allele. Second hits may or may not be sufficient for neoplastic transformation.
Lawson, Andrew R. J., Young, Matthew D., Aquilina, Kristian, Tollit, Anna, Nicola, Pantelis A., Jacques, Thomas S, Burke, G. A. Amos; id_orcid, Jessop, Flora A., Jung, Hyunchul, Allinson, Kieren, Sanghvi, Rashesh, Lensing, Stefanie V., Coorens, Tim H. H., Lee-Six, Henry, Martincorena, Inigo, Behjati, Sam, Oliver, Thomas R. W., Jorgensen, Mette, Butler, Timothy M., Hooks, Yvette, Cortes-Ciriano, Isidro, Löbel, Ulrike, Hargrave, Darren, Treger, Taryn D., Flanagan, Adrienne M   +24 more
core   +3 more sources

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1 [PDF]

, 1999
PubMedID: 9927033Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer. The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown.
Tuncer M., Cevher B., Özçelik T., Uzunalimoglu O., Ricciardone M.D., Gürgey A., Özdag H.   +6 more
core   +1 more source

Neurofibromatosis: chronological history and current issues Neurofibromatose: histórico cronológico e aspectos atuais

Anais Brasileiros de Dermatologia, 2013
Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous ...
João Roberto Antônio, Eny Maria Goloni-Bertollo, Lívia Arroyo Trídico   +2 more
doaj  

The neurofibromatosis type 1 gene and its protein product, neurofibromin [PDF]

Neuron, 1993
Von Recklinghausen neurofibromatosis, or neurofibromatosis type 1 (NFI), affects approximately 1 in 3500 individuals of all ethnic backgrounds. It is inherited as an autosomal dominant disease and is manifested clinically by abnormalities that predominantly affect tissues which derive from the neural crest (Riccardi, 1981,199l; Riccardi and Eichner ...
Gutmann, David H., Collins, Francis S.
openaire   +3 more sources

Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1

Pharmacogenomics and Personalized Medicine, 2022
Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle ...
Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H   +3 more
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