190 related articles for article (PubMed ID: 34988040)
1. Identification of
Lu YT; Zhang D; Liu XC; Zhang QY; Dong XQ; Fan P; Xiao Y; Zhou XL
Front Pediatr; 2021; 9():785982. PubMed ID: 34988040
[No Abstract] [Full Text] [Related]
2. Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.
Chen L; Xue F; Xu J; He J; Fu W; Zhang Z; Kang Q
Mol Genet Genomic Med; 2019 Sep; 7(9):e904. PubMed ID: 31347283
[TBL] [Abstract][Full Text] [Related]
3. A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
Gabriele AL; Ruggieri M; Patitucci A; Magariello A; Conforti FL; Mazzei R; Muglia M; Ungaro C; Di Palma G; Citrigno L; Sproviero W; Gambardella A; Quattrone A
Childs Nerv Syst; 2011 Apr; 27(4):635-8. PubMed ID: 20927530
[TBL] [Abstract][Full Text] [Related]
4. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
[TBL] [Abstract][Full Text] [Related]
5. Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.
Du Q; Chen H; Zhou H
Neurol Sci; 2022 Feb; 43(2):1295-1301. PubMed ID: 34089417
[TBL] [Abstract][Full Text] [Related]
6. Next Generation Sequencing Identified a Novel Multi Exon Deletion of the
J Y; J-X A; X-L L; Z-Q W; G-M X; X-L Y; S-J X; F F; Y N
Balkan J Med Genet; 2018 Dec; 21(2):45-48. PubMed ID: 30984524
[TBL] [Abstract][Full Text] [Related]
7. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.
Xiao H; Yuan L; Xu H; Yang Z; Huang F; Song Z; Yang Y; Zeng C; Deng H
J Mol Neurosci; 2018 Aug; 65(4):557-563. PubMed ID: 30046999
[TBL] [Abstract][Full Text] [Related]
8. Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.
Zhang ZY; Wu YY; Cai XY; Fang WL; Xiao FL
Front Genet; 2021; 12():603195. PubMed ID: 33767727
[TBL] [Abstract][Full Text] [Related]
9. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.
Bernier A; Larbrisseau A; Perreault S
Pediatr Neurol; 2016 Jul; 60():24-29.e1. PubMed ID: 27212418
[TBL] [Abstract][Full Text] [Related]
10. Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare
Sayın Kocakap DB; Gündüz Ö; Özer L; Durak M
Balkan J Med Genet; 2021 Nov; 24(2):99-102. PubMed ID: 36249525
[TBL] [Abstract][Full Text] [Related]
11. A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
Santoro C; Giugliano T; Bernardo P; Palladino F; Torella A; Del Vecchio Blanco F; Onore ME; Carotenuto M; Nigro V; Piluso G
BMC Neurol; 2020 Sep; 20(1):327. PubMed ID: 32873259
[TBL] [Abstract][Full Text] [Related]
12. Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules.
Zhong Z; Yang T; Liu S; Wang S; Zhou S; Du S; Zheng L; Wang X; Wang H; Wang Y; Gao M
Front Genet; 2023; 14():1126555. PubMed ID: 37025448
[No Abstract] [Full Text] [Related]
13. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
[TBL] [Abstract][Full Text] [Related]
14. Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
Kocabey M; Özkalaycı H; Çankaya T; Yılmaz Uzman C; Çağlayan AO; Ülgenalp A; Erçal MD
Int J Dev Neurosci; 2023 Aug; 83(5):456-465. PubMed ID: 37280783
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.
Banerjee S; Dai Y; Liang S; Chen H; Wang Y; Tang L; Wu J; Huang H
J Clin Neurosci; 2016 Sep; 31():182-4. PubMed ID: 27234610
[TBL] [Abstract][Full Text] [Related]
16. Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
Yao R; Yu T; Xu Y; Yu L; Wang J; Wang X; Wang J; Shen Y
Genes (Basel); 2019 Oct; 10(11):. PubMed ID: 31717729
[TBL] [Abstract][Full Text] [Related]
17. [Neurofibromatosis type 1 or Von Recklinghausen's disease].
Pinson S; Wolkenstein P
Rev Med Interne; 2005 Mar; 26(3):196-215. PubMed ID: 15777582
[TBL] [Abstract][Full Text] [Related]
18. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?
Van-Gils J; Harambat J; Jubert C; Vidaud D; Llanas B; Perel Y; Lacombe D; Goizet C
Eur J Med Genet; 2014; 57(11-12):639-42. PubMed ID: 25234363
[TBL] [Abstract][Full Text] [Related]
19. Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel
Gjorgjievska M; Bozhinovski G; Sukarova-Angelovska E; Kocova M; Kanzoska LM; Plaseska-Karanfilska D
Balkan Med J; 2023 Jul; 40(4):252-261. PubMed ID: 37073110
[TBL] [Abstract][Full Text] [Related]
20. Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence.
Cohen PR
Cureus; 2021 Apr; 13(4):e14258. PubMed ID: 33954070
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]