Archives of Medical Science, 2019 Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient’s oriented longitudinal care ...
Marek W. Karwacki +3 more
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A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism [PDF]
, 2014 Here we analyze the genetic and molecular basis responsible for a very benign phenotype observed in an NF1 patient. Quantification of cells carrying the NF1 mutation in different samples derived from the three embryonic layers revealed mosaicism ...
Benavente, Yolanda +7 more
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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 +6 more
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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
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
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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
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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
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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
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
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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
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