Results 51 to 60 of about 15,366 (199)

Embarazada con neurofibromatosis tipo 1

Revista de Ciencias Médicas de Pinar del Río, 2016
La neurofibromatosis tipo 1 es una enfermedad genética, de transmisión autosómica, dominante, con 100% de penetrancia y expresividad variable, correspondiendo la mitad de los casos a mutaciones de novo.
Amado Antonio García Odio, Yanisel Rives González, Ana Ivis Reina Arroyo, Daymeris Álvarez Bolívar   +3 more
doaj  

An ShRNA Screen Identifies MEIS1 as a Driver of Malignant Peripheral Nerve Sheath Tumors

EBioMedicine, 2016
Malignant peripheral nerve sheath tumors (MPNST) are rare soft tissue sarcomas that are a major source of mortality in neurofibromatosis type 1 (NF1) patients.
Ami V. Patel, Katherine E. Chaney, Kwangmin Choi, David A. Largaespada, Ashish R. Kumar, Nancy Ratner   +5 more
doaj   +1 more source

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

, 2007
Supplementary Figure Legends 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

Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1

, 2020
Neurofibromatosis type (NF1) is a syndrome characterized by varied symptoms, ranging from mild to more aggressive phenotypes. The variation is not explained only by genetic and epigenetic changes in the NF1 gene and the concept of phenotype-modifier ...
Larissa Brussa Reis, Tiago Finger Andreis, Patricia Ashton-Prolla, Clévia Rosset, Thayne Woycinck Kowalski   +4 more
core   +1 more source

Walsh & Hoyt: Neurofibromatosis

, 2005
Clinical and genetic studies had for some time suggested two forms of neurofibromatosis. In 1988, a panel of specialists adopted a classification of the two types. The genes for each form were subsequently cloned. Neurofibromatosis type 1 (NF1), the most
John Kerrison, MD
core   +1 more source

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Molecular Genetics & Genomic Medicine, 2020
Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum ...
Leora Witkowski, Mitchell W. Dillon, Elissa Murphy, Matthew SLebo, Heather Mason‐Suares   +4 more
doaj   +1 more source

Biallelic Mismatch Repair Deficiency in an Adolescent Female

Case Reports in Genetics, 2018
Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth, Mark A. Valasek, Irene Thung, Thomas Savides, Mamata Sivagnanam, Sonia Ramamoorthy, Sherry Huang   +6 more
doaj   +1 more source

Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome.

, 2017
PURPOSE: The majority of gastrointestinal stromal tumors (GIST) are driven by KIT, PDGFRA, or, less commonly, BRAF mutations, and SDH gene inactivation is involved in a limited fraction of gastric lesions.
Pilotti S, Frate E, Dei Tos AP, Polano M, Tamborini E, Mandolesi A, Rossi S, Massani M, Bracci R, Sbaraglia M, Mondello A, Gronchi A, Lorenzetto E, Stanzial F, Lamon S, Gasparotto D, Agaj J, Mazzoleni G, Maestro R.   +18 more
core   +1 more source

Prevalence of NF1 missense mutations and candidate modifier genes in 12 familial and 15 sporadic spinal neurofibromatosis patients

, 2020
Spinal Neurofibromatosis (SNF) is a specific form of Neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas involving all spinal roots. This feature allows to specifically distinguish SNF from Neurofibromatosis type 1 (NF1), and Multiple
M. Eoli, V. Tritto, M. Marina Melone, C. Schettino, C. Battaglia, V. Saletti, P. Bettinaglio, F. Natacci, R. Bordoni, D. Bianchessi, C. Cesaretti, P. Riva, E. Mangano   +12 more
core  

Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene

Orthopedic Research and Reviews, 2023
Vivian Reinhold,1 Antti Saarinen,2 Eetu Suominen,2 Stina Syrjänen,3,4 Minna Kankuri-Tammilehto1,5 1Institute of Biomedicine, University of Turku, Turku, Finland; 2Department of Paediatric Orthopaedic Surgery, University of Turku and Turku University ...
Reinhold V, Saarinen A, Suominen E, Syrjänen S, Kankuri-Tammilehto M   +4 more
doaj