161 related articles for article (PubMed ID: 38226287)
1. Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Srivastava P; Gupta S; Bamba C; Daniel R; Kaur P; Kaur A; Panigrahi I; Mandal K
Heliyon; 2024 Jan; 10(1):e23685. PubMed ID: 38226287
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C; Lezana Rosales JM; López Montiel J; Andrés Garrido LD; Sánchez Linares C; Carmona Tamajón S; Torres Fernández C; Sánchez González P; Franco Freire S; Benito López C; López Siles J
Ann Hum Genet; 2018 Nov; 82(6):425-436. PubMed ID: 30014477
[TBL] [Abstract][Full Text] [Related]
5. Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families.
Sharifi S; Kalaycı T; Palanduz Ş; Öztürk Ş; Cefle K
Balkan Med J; 2021 Nov; 38(6):365-373. PubMed ID: 34860164
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.
Lin G; Wei H; Lai AHM; Tan ES; Lim JY; Cham B; Ling S; Jamuar SS; Tan EC
J Pediatr Genet; 2023 Jun; 12(2):135-140. PubMed ID: 37090834
[TBL] [Abstract][Full Text] [Related]
8. Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.
Bildirici Y; Kocaaga A; Karademir-Arslan CN; Yimenicioglu S
Pediatr Neurol; 2023 Dec; 149():69-74. PubMed ID: 37806041
[TBL] [Abstract][Full Text] [Related]
9. Simultaneous Detection of
Bianchessi D; Ibba MC; Saletti V; Blasa S; Langella T; Paterra R; Cagnoli GA; Melloni G; Scuvera G; Natacci F; Cesaretti C; Finocchiaro G; Eoli M
Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32575496
[TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular characterization of neurofibromatosis in southern Brazil.
Rosset C; Vairo F; Cristina Bandeira I; Fonini M; Netto CBO; Ashton-Prolla P
Expert Rev Mol Diagn; 2018 Jun; 18(6):577-586. PubMed ID: 29685074
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
Ben-Salem S; Al-Shamsi AM; Ali BR; Al-Gazali L
Childs Nerv Syst; 2014 Jul; 30(7):1183-9. PubMed ID: 24413922
[TBL] [Abstract][Full Text] [Related]
13. Genetic Analyses of the
Ulusal SD; Gürkan H; Atlı E; Özal SA; Çiftdemir M; Tozkır H; Karal Y; Güçlü H; Eker D; Görker I
Balkan J Med Genet; 2017 Jun; 20(1):13-20. PubMed ID: 28924536
[TBL] [Abstract][Full Text] [Related]
14. Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.
Zhu G; Zheng Y; Liu Y; Yan A; Hu Z; Yang Y; Xiang S; Li L; Chen W; Peng Y; Zhong N; Mei H
Orphanet J Rare Dis; 2019 Sep; 14(1):221. PubMed ID: 31533797
[TBL] [Abstract][Full Text] [Related]
15. Next-generation panel sequencing identifies
Gieldon L; Masjkur JR; Richter S; Därr R; Lahera M; Aust D; Zeugner S; Rump A; Hackmann K; Tzschach A; Januszewicz A; Prejbisz A; Eisenhofer G; Schrock E; Robledo M; Klink B
Eur J Endocrinol; 2018 Feb; 178(2):K1-K9. PubMed ID: 29158289
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation of the
He Q; Jiang J; Yang J; Zeng J; Zhang H; Zhang Z
Am J Transl Res; 2022; 14(7):5139-5145. PubMed ID: 35958499
[TBL] [Abstract][Full Text] [Related]
17. Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.
Laczmańska I; Szczepaniak M; Jakubiak A; Stembalska A
Adv Clin Exp Med; 2014; 23(4):517-21. PubMed ID: 25166435
[TBL] [Abstract][Full Text] [Related]
18. Somatic Mosaicism of NF2 Gene Mutation with Constitutional NF1 Gene Mutation in Neurofibromatosis Type 2: a Case Report.
Yoo SJ; Hwang YS
Clin Lab; 2020 Nov; 66(11):. PubMed ID: 33180429
[TBL] [Abstract][Full Text] [Related]
19. Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore.
Loh J; Ong PY; Goh DLM; Puhaindran ME; Vellayappan BA; Ow SGW; Chan G; Lee SC
Hered Cancer Clin Pract; 2022 Jun; 20(1):23. PubMed ID: 35698239
[TBL] [Abstract][Full Text] [Related]
20. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
Ko JM; Sohn YB; Jeong SY; Kim HJ; Messiaen LM
Pediatr Neurol; 2013 Jun; 48(6):447-53. PubMed ID: 23668869
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]