scholarly journals Neurofibromatosis Type 1 Molecular Diagnosis in Turkish Patients

2020 ◽  
Vol 31 (3) ◽  
Keyword(s):  
Molecular Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Turkish Patients

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

2006 ◽  
Vol 6 (1) ◽  
pp. 21-34 ◽  
Author(s):  
Siân Griffiths ◽  
Peter Thompson ◽  
Ian Frayling ◽  
Meena Upadhyaya
Keyword(s):  
Molecular Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

2014 ◽  
Vol 23 (5) ◽  
pp. 596-601 ◽  
Author(s):  
Eric Pasmant ◽  
Béatrice Parfait ◽  
Armelle Luscan ◽  
Philippe Goussard ◽  
Audrey Briand-Suleau ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Loss Of Function ◽  
Large Gene

scholarly journals Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Genes ◽  
2019 ◽  
Vol 10 (8) ◽  
pp. 580 ◽  
Author(s):  
Teresa Giugliano ◽  
Claudia Santoro ◽  
Annalaura Torella ◽  
Francesca Del Vecchio Blanco ◽  
Anna Grandone ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Target Genes ◽  
Positive Impact ◽  
Neurofibromatosis Type ◽  
Legius Syndrome ◽  
Almost All ◽  
Dependent Probe

Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius syndrome, and other neurocutaneous disorders. The differential molecular diagnosis of these pathologies is a challenge that can now be met by combining next generation sequencing of target genes with concurrent second-level tests, such as multiplex ligation-dependent probe amplification and RNA analysis. We clinically and genetically investigated 281 patients, almost all pediatric cases, presenting with either NF1 (n = 150), only pigmentary features (café au lait macules with or without freckling; (n = 95), or clinical suspicion of other RASopathies or neurocutaneous disorders (n = 36). The causative variant was identified in 239 out of the 281 patients analyzed (85.1%), while 42 patients remained undiagnosed (14.9%). The NF1 and SPRED1 genes were mutated in 73.3% and 2.8% of cases, respectively. The remaining 8.9% carried mutations in different genes associated with other disorders. We achieved a molecular diagnosis in 69.5% of cases with only pigmentary manifestations, allowing a more appropriate clinical management of these patients. Our findings, together with the increasing availability and sharing of clinical and genetic data, will help to identify further novel genotype–phenotype associations that may have a positive impact on patient follow-up.

Advances in Molecular Diagnosis of Neurofibromatosis Type 1

2015 ◽  
Vol 22 (4) ◽  
pp. 234-239 ◽  
Author(s):  
Ben Shofty ◽  
Shlomi Constantini ◽  
Shay Ben-Shachar
Keyword(s):  
Molecular Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals The Use of Next-Generation Sequencing in Molecular Diagnosis of Neurofibromatosis Type 1: A Validation Study

2014 ◽  
Vol 18 (11) ◽  
pp. 722-735 ◽  
Author(s):  
Ryo Maruoka ◽  
Toshiki Takenouchi ◽  
Chiharu Torii ◽  
Atsushi Shimizu ◽  
Kumiko Misu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Validation Study ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Next Generation ◽  
Generation Sequencing
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