Results 91 to 100 of about 24,332 (187)

Rare variants modulating phenotype in NF1 carriers

Scientific Reports
Neurofibromatosis type 1 (NF1) is a rare genetic disorder with highly variable phenotypes, ranging from psychosocial challenges and congenital malformations to benign tumors and even aggressive cancers.
Elena Pasquinelli, Giulia Casamassima, Giulia Brunelli, Omaima Belakhdar, Samantha Minetto, Salvatore Grosso, Roberto Canitano, Stefania Marsili, Ignazio Martellucci, Salvadora Tindara Miano, Roberto Petrioli, Margherita Baldassarri, Romina D’Aurizio, Chiara Fallerini, Alessandra Renieri   +14 more
doaj   +1 more source

Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2

Epigenomes
Neurocutaneous syndromes, known as phakomatoses, encompass a diverse group of congenital conditions affecting the nervous system and skin, with neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) among the most clinically significant.
Christina Stylianides, Gavriel Hadjigavriel, Paschalis Theotokis, Efstratios Vakirlis, Soultana Meditskou, Maria Eleni Manthou, Iasonas Dermitzakis   +6 more
doaj   +1 more source

Monogenic signs of susceptibility to ischemic stroke: literature review

Ukrainian Neurosurgical Journal, 2016
Genetic factors are the important chain in the complex conditions determining the development of ischemic stroke. Mutations have different significance for the risk of its development.
Vitaliy Tsymbaliuk, Iryna Vasileva
doaj   +1 more source

Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report

European Journal of Breast Health, 2017
Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma.
Duygu Dursun, Safiye Aktaş, Zekiye Altun, Nur Olgun   +3 more
doaj   +1 more source

Comprehensive genomic characterization defines human glioblastoma genes and core pathways. [PDF]

, 2008
Human cancer cells typically harbour multiple chromosomal aberrations, nucleotide substitutions and epigenetic modifications that drive malignant transformation.
Cancer Genome Atlas Research Network
core   +1 more source

Juvenile Myelomonocytic Leukemia in a Child with Underlying Mutations in Neurofibromatosis Type 1 and FLT3 Genes: A Case Report

Indian Pediatrics Case Reports
Background: Juvenile myelomonocytic leukemia (JMML) is known to be associated with certain genetic variants involved in the RAS pathway. We describe a child with JMML associated with Neurofibromatosis Type 1 (NF1) variant.
Reshma Thomas, Abhilasha Sampagar
doaj   +1 more source

HERVs, transposons and human diseases : part II [PDF]

, 2013
Part 1 and part 3 of the article can be found through this link : https://www.um.edu.mt/library/oar//handle/123456789/12961 https://www.um.edu.mt/library/oar//handle/123456789/13132Part 2 of the article.
Baldacchino, Sandra, Grech, Alfred
core  

[Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].

Lijecnicki vjesnik, 2006
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of any type or 1 plexiform neurofibroma, freckling in the axillary or inguinal region, optic glioma, a ...
Zlatko, Sabol, Ljiljana, Kipke-Sabol
openaire   +1 more source

Parental age and risk of genetic syndromes predisposing to nervous system tumors: nested case–control study

Clinical Epidemiology, 2018
Maral Adel Fahmideh,1 Giorgio Tettamanti,1 Catharina Lavebratt,2 Mats Talbäck,1 Tiit Mathiesen,3,4 Birgitta Lannering,5 Kimberly J Johnson,6,7 Maria Feychting1 1Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet ...
Adel Fahmideh M, Tettamanti G, Lavebratt C, Talbäck M, Mathiesen T, Lannering B, Johnson KJ, Feychting M   +7 more
doaj  

Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing

International Journal of Endocrinology, 2014
Paragangliomas are rare neuroendocrine tumors that arise in the sympathetic or parasympathetic nervous system. Sympathetic paragangliomas are mainly found in the adrenal medulla (designated pheochromocytomas) but may also have a thoracic, abdominal, or ...
Rute Martins, Maria João Bugalho
doaj   +1 more source