Results 61 to 70 of about 15,366 (199)

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  

Pheochromocytomas and paragangliomas: clinical and genetic approaches

Frontiers in Endocrinology, 2015
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumours derived from the chromafin tissue. Diagnosis of these tumours is extremely important as they are linked to the hypertension syndrome with great cardiovascular morbidity and ...
Marcia Helena Costa, Tania M Ortiga-Carvalho, Alice Dutra Violante, Mario eVaisman   +3 more
doaj   +1 more source

Type 1 Neurofibromatosis Gene: Correction [PDF]

Science, 1990
Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen, Francis S. Collins   +3 more
openaire   +2 more sources

Isolated Pheochromocytoma in a 73-Year-Old Man With No Clinical Manifestations of Type 1 Neurofibromatosis Carrying an Unsuspected Deletion of the Entire NF1 Gene

Frontiers in Endocrinology, 2019
Pheochromocytomas (PHEOs) are a rare cause of endocrine hypertension that requires genetic counseling since at least 30% of PHEOs are associated with a germline mutation in a susceptibility gene.
Stefanie Parisien-La Salle, Nadine Dumas, Geneviève Rondeau, Mathieu Latour, Isabelle Bourdeau   +4 more
doaj   +1 more source

Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)

BMC Cancer, 2019
Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs).
Liang Shang, Zhen Fang, Jin Liu, Fengying Du, Haiyan Jing, Yali Xu, Kangdi Dong, Xiaoman Zhang, Hao Wu, Changqing Jing, Leping Li   +10 more
doaj   +1 more source

Legius Syndrome and its Relationship with Neurofibromatosis Type 1

, 2020
Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or ...
Legius, Eric, Denayer, Ellen
core   +1 more source

Familial paragangliomas

Hereditary Cancer in Clinical Practice, 2006
Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect.
Lips CJM, Lentjes EGWM, Höppener JWM, Luijt RB, Moll FL   +4 more
doaj   +1 more source

Neurofibromatosis tipo 1

Ateneo
Introducción: La neurofibromatosis tipo 1 o NF1 pertenece al grupo de las Rasopatías que son un grupo de enfermedades que se caracterizan por mutaciones de los genes que codifican de las vías Ras/MAPK, localizado en el cromosoma 17q11.2, provocando un ...
Javier Aquiles Hidalgo Acosta, Wagnner Ariol Intriago Zambrano, Grace Gabriela Loor Ordóñez, Israel Luis Villavicencio Quevedo, Joanna Patricia Moreno Garzón   +4 more
doaj  

mutation and overexpression in patients with neurofibromatosis type 1‐associated malignant peripheral nerve sheath tumors [PDF]

, 2017
BackgroundMalignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise at an estimated frequency of 8% to 13% in individuals with neurofibromatosis type 1 (NF1).
Gutmann, David H, Angela C. Hirbe, Pekmezci, Melike, Hirbe, Angela C, David H. Gutmann, Kaushal, Madhurima, Arie Perry, Mukesh Kumar Sharma, Sonika Dahiya, Madhurima Kaushal, Melike Pekmezci, Sharma, Mukesh Kumar, Dahiya, Sonika, Perry, Arie   +13 more
core   +1 more source

A Drosophila screen identifies neurofibromatosis-1 genetic modifiers involved in systemic and synaptic growth [PDF]

, 2015
Neurofibromatosis type 1 (NF1) is caused by loss of a negative regulator of Ras oncoproteins. Unknown genetic modifiers have been implicated in NF1’s characteristic variability.
Walker, James, Bernards, Andre
core   +1 more source