Results 21 to 30 of about 124,379,666 (230)

Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication. [PDF]

Mol Genet Genomic Med
Incidental molecular diagnosis of Neurofibromatosis Type 1 when prenatal chromosome microarray detected a duplication encompassing exons 2–36 of the NF1 gene. Pathogenicity was confirmed by RNA analysis. This case identifies a novel pathogenic NF1 duplication and highlights the importance of clinical genetics referral, pre‐test counseling, and informed
Sandow R, Garg G.
europepmc   +2 more sources

A Conserved Circadian Function for the Neurofibromatosis 1 Gene [PDF]

Cell Reports, 2018
Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock. However, the relevant cellular mechanisms are not known.
Bai, Lei, Lee, Yool, Hsu, Cynthia T., Williams, Julie A., Cavanaugh, Daniel, Zheng, Xiangzhong, Stein, Carly, Haynes, Paula, Wang, Han, Gutmann, David H., Sehgal, Amita   +10 more
openaire   +4 more sources

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report

BMC Pediatrics, 2023
Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively.
Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz   +11 more
doaj   +1 more source

Neuroibromatosis tipo l: relación genotipo-fenotipo

Acta Neurológica Colombiana, 2020
INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas.
Mariana Teresa Gómez-López, Juan Sebastián Botero-Meneses, Luis Octavio Tierradentro-García, Alberto Vélez-van-Meerbeke   +3 more
doaj   +1 more source

Neurofibromatosis type 1 (NF1) [PDF]

, 2006
Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Wimmer, K
core   +1 more source

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene [PDF]

European Journal of Human Genetics, 2000
Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at the molecular level. Using fluorescence in situ hybridisation (FISH) we identified an NF1 microdeletion in a patient with segmental NF in whom café-au-lait spots and freckles are
S, Tinschert, I, Naumann, E, Stegmann, A, Buske, D, Kaufmann, G, Thiel, D E, Jenne   +6 more
openaire   +2 more sources

Neurofibromatosis type 1 (NF1) [PDF]

, 1997
Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Huret, JL
core   +1 more source

Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype

Cell Death and Disease, 2021
Neurofibromatosis type 1 (NF1), an autosomal dominant and multisystem disorder, is generally considered to be caused by NF1 inactivation. However, there are also numerous studies showing that Neurofibromatosis type 1-like phenotype can be caused by the ...
Zhuanli Bai, Yiping Qu, Lin Shi, Xinju Li, Zhen Yang, Meiju Ji, Peng Hou   +6 more
doaj   +1 more source

Evaluation of Neurofibromatosis Gene Expression in Non-Hereditary Breast Cancer

Novelty in Biomedicine, 2023
Background: Breast cancer is the most common cause of death in women. Studies have shown that changes in neurofibromatosis gene expression can cause breast cancer.
Mahsa Kavousi, Fatemeh Smailzadeh, Jalil Fallah Mehrabadi, Lobat Geranpayeh   +3 more
doaj   +1 more source

Genomic organization of the neurofibromatosis 1 gene (NF1)

Genomics, 1995
Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and the remainder of the gene lies in ...
Y, Li, P, O'Connell, H H, Breidenbach, R, Cawthon, J, Stevens, G, Xu, S, Neil, M, Robertson, R, White, D, Viskochil   +9 more
openaire   +2 more sources