Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes
Abstract Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder
worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder …
worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder …
Ketotifen suppression of NF1 neurofibroma growth over 30 years
VM Riccardi - American Journal of Medical Genetics Part A, 2015 - Wiley Online Library
A patient with NF1 was treated with oral ketotifen for 30 years since infancy. Review of the
patient's course and treatment details establishes a basis for reconsideration of several …
patient's course and treatment details establishes a basis for reconsideration of several …
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR
P Bettinaglio, V Tritto, R Paterra, M Eoli… - Annals of Human …, 2024 - Wiley Online Library
Abstract Backgroud Neurofibromatosis type 1 (NF1) is a heterogeneous neurocutaneous
disorder. Spinal neurofibromatosis (SNF) is a distinct clinical entity of NF1, characterized by …
disorder. Spinal neurofibromatosis (SNF) is a distinct clinical entity of NF1, characterized by …
Assessment of Ecotropic Viral Integration Site 2B (EVI2B) Gene in Juvenile Myelomonocytic Leukemia and Neurofibromatosis Type 1 NF1 Tumors
P Saharafi, İ Akar, S Ersoy-Evans, B Anlar, A Varan… - Biochemical …, 2024 - Springer
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that affects the
development and growth of various tissues. NF1 is a major risk factor for the development of …
development and growth of various tissues. NF1 is a major risk factor for the development of …
Clinical findings and mutation analysis of NF1 patients in Turkey
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by
mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation …
mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation …
Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1
E Hernández‐Imaz, B Campos… - Clinical …, 2013 - Wiley Online Library
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease caused by
mutations in the NF1 gene. The mutation rate of NF1 is one of the highest known for human …
mutations in the NF1 gene. The mutation rate of NF1 is one of the highest known for human …
[HTML][HTML] Neuroibromatosis tipo l: relación genotipo-fenotipo
MT Gómez-López, JS Botero-Meneses… - Acta Neurológica …, 2020 - scielo.org.co
RESUMEN INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen)
es una enfermedad autosómica dominante que presenta principalmente manifestaciones …
es una enfermedad autosómica dominante que presenta principalmente manifestaciones …
Involvement of NF1 3'tertile and its interactors in spinal neurofibromatosis type 1 and role of double mutations in NF1 compound heterozygotes
P Bettinaglio - 2023 - iris.unibs.it
Abstract Neurofibromatosis Type 1 (NF1) is an autosomal dominant Mendelian disease with
variable expression, caused by NF1 gene mutations. In contrast to the classical NF1, the …
variable expression, caused by NF1 gene mutations. In contrast to the classical NF1, the …
Type 1 neurofibromatosis: genotype-phenotype relationship
MT Gómez-López, JS Botero-Meneses… - Acta Neurológica …, 2020 - scielo.org.co
Abstract GOMEZ-LOPEZ, Mariana Teresa; BOTERO-MENESES, Juan Sebastián;
TIERRADENTRO-GARCIA, Luis Octavio and VELEZ-VAN-MEERBEKE, Alberto. Type 1 …
TIERRADENTRO-GARCIA, Luis Octavio and VELEZ-VAN-MEERBEKE, Alberto. Type 1 …