Neurofibromatose tipo 1: relato de um caso clínico
Revista Portuguesa de Medicina Geral e Familiar, 2013 Introdução: A neurofibromatose tipo 1 (NF1) é uma doença neurocutânea de hereditariedade autossómica dominante, ocorrendo mutações de novo em cerca de metade dos casos.
Ana Catarina Marques, Fátima Dinis
doaj +1 more source
Occlusal traits in children with neurofibromatosis type 1 [PDF]
, 2015 Literature is poor of data about the occlusion in children affected by neurofibromatosis type 1 (NF1).
Amadori, F +7 more
core +1 more source
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. [PDF]
, 2021 PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We used
core +5 more sources
Meningiomas occurring during long-term survival after treatment for childhood cancer
, 2014 Childhood cancer is rare but improvements in treatment over the past five decades have resulted in a cohort of more than 30,000 long-term survivors of childhood cancer in the UK with more added annually.
Bhangoo, R. +4 more
core +1 more source
The impact of mosaicism in preimplantation genetic diagnosis (PGD): approaches to PGD for dominant disorders in couples without family history [PDF]
, 2016 OBJECTIVES: Mosaicism in certain dominant disorders may result in a 'non-Mendelian' transmission for the causative mutation. Preimplantation genetic diagnosis (PGD) is available for patients with inherited disorders to achieve an unaffected pregnancy. We
Delhanty, J +5 more
core +1 more source
Mouse Models of Neurofibromatosis 1 and 2
Neoplasia: An International Journal for Oncology Research, 2002 The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
doaj +1 more source
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11 [PDF]
, 2018 For 21 putative BRCA1 and BRCA2 splice site variants, the concordance between mRNA analysis and predictions by in silico programs was evaluated. Aberrant splicing was confirmed for 12 alterations.
Asrat, Marie Jill +24 more
core +2 more sources
Abordagem cirúrgica de neurofibroma gigante Surgical correction of a giant neurofibroma
Revista Brasileira de Cirurgia Plástica, 2012 Neurofibromatose é uma doença de origem genética autossômica dominante composta por três tipos: neurofibromatose tipo 1 (NF1), neurofibromatose tipo 2 (NF2) e schwannomatose.
Iana Silva Dias +4 more
doaj +1 more source
The NF1 somatic mutational landscape in sporadic human cancers [PDF]
, 2017 Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Cooper, David Neil +4 more
core +2 more sources
Neurofibromatosis: analysis of clinical cases and new diagnostic criteria [PDF]
, 2022 Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are ...
A. V. Golanov +6 more
core +2 more sources