Results 51 to 60 of about 54,719 (217)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. [PDF]

PLoS ONE, 2018
BACKGROUND AND PURPOSE:Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
Claudia Santoro, Teresa Giugliano, Markus Kraemer, Annalaura Torella, Jan Claudius Schwitalla, Mario Cirillo, Daniela Melis, Peter Berlit, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso   +10 more
doaj   +1 more source

Malignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation [PDF]

, 2010
Malignant peripheral nerve sheath tumors (MPNST’S) of the head and neck comprise 2% to 6% of head and neck sarcomas. These tumors may arise as sporadic variants or in patients with neurofibromatosis (NF).
Bahl, A, Bansal, S, Bhagat, S, Gupta, A
core   +1 more source

TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death [PDF]

, 2019
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise most commonly in the setting of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome.
Bu, Xianzhang, Godec, Abigail, Hirbe, Angela C, Qin, Wenjing, Shao, Jieya, Tao, Yu, Zhang, Xiaochun, Zhu, Cuige   +7 more
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]

, 2018
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F, Coutts, Alexander W, Dahiya, Sonika, Dombi, Eva, Fahrenkrug, Scott C, Fisher, James, Giovannini, Marco, Gutmann, David H, Isakson, Sara H, Kirstein, Mark N, Largaespada, David A, Messiaen, Ludwine, Moertel, Christopher L, Pluhar, G Elizabeth, Ratner, Nancy, Rizvi, Tilat, Rizzardi, Anthony E, Stemmer-Rachamimov, Anat O, Vitte, Jeremie, Watson, Adrienne L, Widemann, Brigitte C, Williams, Kyle B   +21 more
core   +2 more sources

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Caracterización clínica de pacientes con neurofibromatosis segmentaria Clinical characterization of patients with segmental neurofibromatosis

Revista de Ciencias Médicas de Pinar del Río, 2012
La neurofibromatosis tipo 1 es la enfermedad monogénica más frecuente en la especie humana. En su clasificación se describe la variante segmentaria como forma clínica especial, poco frecuente, caracterizada por máculas "café con leche" o neurofibromas ...
Miladys Orraca Castillo, Anitery Travieso Téllez   +1 more
doaj  

Neurofibromatosis type 1 and cardiac manifestations

Türk Kardiyoloji Derneği Arşivi, 2015
Objective: Cardiac manifestations of neurofibromatosis type 1 (NF1) may include hypertension, congenital heart disease, and hypertrophic cardiomyopathy. The aim of this study was to evaluate cardiac abnormalities in patients with NF1.
Faruk İncecik, Özlem M Hergüner, Sevcan Alınç-erdem, Şakir Altunbaşak   +3 more
doaj   +1 more source

Neurofibromatosis type 1

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2019
Background Neurofibromatosis type 1 (NF1), a complex multisystemic disorder caused by a genetic mutation on chromosome 17, causes uncontrolled tumor growths (called neurofibromas) in the nervous system. There are numerous conditions and complications associated with this disorder, which can affect the skin, eye, muscle, bone, and nervous system.
S. PALACIOS, D. KASHTWARI, S. BARGHAN
openaire   +2 more sources