Results 41 to 50 of about 16,386 (154)

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  

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1microdeletions [PDF]

, 2012
BACKGROUND: Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions
David N Cooper, Hildegard Kehrer-Sawatzki, Josef Högel, Lan Kluwe, Rosa Nguyen, Tanja Mußotter, Victor-Felix Mautner   +6 more
core   +2 more sources

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

A proteasome-resistant fragment of NIK mediates oncogenic NF-κB signaling in schwannomas [PDF]

, 2019
Schwannomas are common, highly morbid and medically untreatable tumors that can arise in patients with germ line as well as somatic mutations in neurofibromatosis type 2 (NF2).
Angus, Steven P., Bessler, Waylan, Chen, Shi, Clapp, D. Wade, Edwards, Donna, Gehlhausen, Jeffrey R., Hawley, Eric, He, Yongzheng, Jiang, Li, Johnson, Gary L., Lajiness, Jacquelyn D., Li, Xiaohong, Nalepa, Grzegorz, Park, Su-Jung, Rhodes, Steven D., Sandusky, George, Smith, Abbi, Staser, Karl, Stemmer-Rachamimov, Anat, Stuhlmiller, Timothy J., Wahle, Benjamin Mark, Yang, Xianlin, Yates, Charles W., Yuan, Jin   +23 more
core   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1 [PDF]

, 2006
Background Neurofibromatosis 1 (NF1) is an autosomal dominantly inherited disorder caused by a spectrum of mutations affecting the Nf1 gene. Affected patients develop benign and malignant tumors at an increased frequency.
Edwards, Paul C., Fantasia, John E, Rosenberg, Tracey J, Ruggiero, Salvatore, Sachs, Stephen A, Saini, Tamjit   +5 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso Microdeletion syndrome in neurofibromatosis type-1: a case report

Revista de Ciencias Médicas de Pinar del Río, 2011
La neurofibromatosis tipo 1 es una enfermedad genética neuroectodérmica, en la que han sido descritas diferentes tipos de mutaciones en el gen NF1, cuyo locus está en el cromosoma 17 y en este mapean miles de genes; algunos de ellos se encuentran en ...
Miladys Orraca Castillo, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
doaj  

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma [PDF]

, 2012
Low-grade brain tumors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations ...
Demeter, Ryan, Ding, Li, Fulton, Lucinda L, Fulton, Robert S, Guha, Abhijit, Gutmann, David H, Hussain, Ibrahim, Kandoth, Cyriac, Leonard, Jeffrey R, Magrini, Vincent, Mardis, Elaine R, McLellan, Michael D, Miller, Christopher A, Wallis, John W, Wylie, Todd   +14 more
core   +2 more sources

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source