191 related articles for article (PubMed ID: 23758643)
1. Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Nemethova M; Bolcekova A; Ilencikova D; Durovcikova D; Hlinkova K; Hlavata A; Kovacs L; Kadasi L; Zatkova A
Ann Hum Genet; 2013 Sep; 77(5):364-79. PubMed ID: 23758643
[TBL] [Abstract][Full Text] [Related]
2. Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
N Abdel-Aziz N; Y El-Kamah G; A Khairat R; R Mohamed H; Z Gad Y; El-Ghor AM; Amr KS
Mol Genet Genomic Med; 2021 Dec; 9(12):e1631. PubMed ID: 34080803
[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. 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]
6. 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]
7. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Alkindy A; Chuzhanova N; Kini U; Cooper DN; Upadhyaya M
Hum Genomics; 2012 Aug; 6(1):12. PubMed ID: 23244495
[TBL] [Abstract][Full Text] [Related]
8. Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
Güneş N; Yeşil G; Geyik F; Kasap B; Celkan T; Kebudi R; Tüysüz B
Ann Hum Genet; 2021 Sep; 85(5):155-165. PubMed ID: 33877690
[TBL] [Abstract][Full Text] [Related]
9. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.
Banerjee S; Lei D; Liang S; Yang L; Liu S; Wei Z; Tang JP
Oncotarget; 2017 Jun; 8(24):39695-39702. PubMed ID: 27980226
[TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
Corsello G; Antona V; Serra G; Zara F; Giambrone C; Lagalla L; Piccione M; Piro E
Ital J Pediatr; 2018 Apr; 44(1):45. PubMed ID: 29618358
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?
Yang CC; Happle R; Chao SC; Yu-Yun Lee J; Chen W
J Am Acad Dermatol; 2008 Mar; 58(3):493-7. PubMed ID: 18280349
[TBL] [Abstract][Full Text] [Related]
13. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
Yao R; Wang L; Yu Y; Wang J; Shen Y
J Dermatol; 2016 May; 43(5):537-42. PubMed ID: 26458495
[TBL] [Abstract][Full Text] [Related]
14. A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.
Tong HX; Li M; Zhang Y; Zhu J; Lu WQ
Genet Mol Res; 2012 Aug; 11(3):2972-8. PubMed ID: 22869071
[TBL] [Abstract][Full Text] [Related]
15. Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.
Messiaen L; Callens T; De Paepe A; Craen M; Mortier G
Hum Genet; 1997 Nov; 101(1):75-80. PubMed ID: 9385374
[TBL] [Abstract][Full Text] [Related]
16. Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
Campos B; Balmaña J; Gardenyes J; Valenzuela I; Abad O; Fàbregas P; Volpini V; Díez O
Breast Cancer Res Treat; 2013 Jun; 139(2):597-602. PubMed ID: 23624750
[TBL] [Abstract][Full Text] [Related]
17. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.
De Luca A; Bottillo I; Dasdia MC; Morella A; Lanari V; Bernardini L; Divona L; Giustini S; Sinibaldi L; Novelli A; Torrente I; Schirinzi A; Dallapiccola B
J Med Genet; 2007 Dec; 44(12):800-8. PubMed ID: 18055911
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
Lee MJ; Su YN; You HL; Chiou SC; Lin LC; Yang CC; Lee WC; Hwu WL; Hsieh FJ; Stephenson DA; Yu CL
Hum Mutat; 2006 Aug; 27(8):832. PubMed ID: 16835897
[TBL] [Abstract][Full Text] [Related]
20. NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Imbard A; Pasmant E; Sabbagh A; Luscan A; Soares M; Goussard P; Blanché H; Laurendeau I; Ferkal S; Vidaud M; Pinson S; Bellanne-Chantelot C; Vidaud D; Wolkenstein P; ; Parfait B
J Hum Genet; 2015 Apr; 60(4):221-4. PubMed ID: 25631097
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
