191 related articles for article (PubMed ID: 21732117)
1. Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype.
Terzi YK; Sirin B; Serdaroglu E; Anlar B; Aysun S; Hosgor G; Arslan EA; Ayter S
Childs Nerv Syst; 2011 Dec; 27(12):2113-6. PubMed ID: 21732117
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M; Huson SM; Davies M; Thomas N; Chuzhanova N; Giovannini S; Evans DG; Howard E; Kerr B; Griffiths S; Consoli C; Side L; Adams D; Pierpont M; Hachen R; Barnicoat A; Li H; Wallace P; Van Biervliet JP; Stevenson D; Viskochil D; Baralle D; Haan E; Riccardi V; Turnpenny P; Lazaro C; Messiaen L
Am J Hum Genet; 2007 Jan; 80(1):140-51. PubMed ID: 17160901
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
Ece Solmaz A; Isik E; Atik T; Ozkinay F; Onay H
Clin Neurol Neurosurg; 2021 Sep; 208():106884. PubMed ID: 34418705
[TBL] [Abstract][Full Text] [Related]
6. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
Thiel C; Wilken M; Zenker M; Sticht H; Fahsold R; Gusek-Schneider GC; Rauch A
Am J Med Genet A; 2009 Jun; 149A(6):1263-7. PubMed ID: 19449407
[TBL] [Abstract][Full Text] [Related]
7. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.
Muram-Zborovski TM; Vaughn CP; Viskochil DH; Hanson H; Mao R; Stevenson DA
Am J Med Genet A; 2010 Aug; 152A(8):1973-8. PubMed ID: 20602485
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi.
Hida T; Idogawa M; Okura M; Sugita S; Sugawara T; Sasaki Y; Tokino T; Yamashita T; Uhara H
J Dermatol; 2020 Jun; 47(6):658-662. PubMed ID: 32246533
[TBL] [Abstract][Full Text] [Related]
11. NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1.
Su SY; Zhou X; Pang XM; Chen CY; Li SH; Liu JL
Genet Mol Res; 2016 Apr; 15(2):. PubMed ID: 27173220
[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. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR; Brems H; Gomes AG; Ruppert SL; Callens T; Williams J; Claes K; Bober MB; Hachen R; Kaban LB; Li H; Lin A; McDonald M; Melancon S; Ortenberg J; Radtke HB; Samson I; Saul RA; Shen J; Siqveland E; Toler TL; van Maarle M; Wallace M; Williams M; Legius E; Messiaen L
Genet Med; 2014 Jun; 16(6):448-59. PubMed ID: 24232412
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Neurofibromatosis: novel and recurrent mutations in Turkish patients.
Terzi YK; Oguzkan S; Anlar B; Aysun S; Ayter S
Pediatr Neurol; 2007 Dec; 37(6):421-5. PubMed ID: 18021924
[TBL] [Abstract][Full Text] [Related]
17. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E; Sabbagh A; Hanna N; Masliah-Planchon J; Jolly E; Goussard P; Ballerini P; Cartault F; Barbarot S; Landman-Parker J; Soufir N; Parfait B; Vidaud M; Wolkenstein P; Vidaud D; France RN
J Med Genet; 2009 Jul; 46(7):425-30. PubMed ID: 19366998
[TBL] [Abstract][Full Text] [Related]
18. Identification of a Novel
Xu G; Li M; Niu Y; Huang X; Li Y; Tang G; Long S; Zhao H; Jiang H
Biomed Res Int; 2019; 2019():2721357. PubMed ID: 31886188
[TBL] [Abstract][Full Text] [Related]
19. Coincidental Expression of Classic Hodgkin Lymphoma and Neurofibromatosis Type I and Literature Review.
Cabrera TB; Wang W; Yedururi S; Slopis JM; Steiner RE; Rytting ME; Cuglievan B
J Pediatr Hematol Oncol; 2021 May; 43(4):e535-e538. PubMed ID: 32366782
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
