288 related articles for article (PubMed ID: 21457932)
1. The pathoetiology of neurofibromatosis 1.
Jouhilahti EM; Peltonen S; Heape AM; Peltonen J
Am J Pathol; 2011 May; 178(5):1932-9. PubMed ID: 21457932
[TBL] [Abstract][Full Text] [Related]
2. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.
Colman SD; Williams CA; Wallace MR
Nat Genet; 1995 Sep; 11(1):90-2. PubMed ID: 7550323
[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. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.
Maertens O; De Schepper S; Vandesompele J; Brems H; Heyns I; Janssens S; Speleman F; Legius E; Messiaen L
Am J Hum Genet; 2007 Aug; 81(2):243-51. PubMed ID: 17668375
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.
Kokkinou E; Roka K; Alexopoulos A; Tsina E; Nikas I; Krallis P; Thanopoulou I; Nasi L; Makrygianni E; Tsoutsou E; Kosma K; Tsipi M; Tzetis M; Frysira H; Kattamis A; Pons R
Postgrad Med; 2019 Sep; 131(7):445-452. PubMed ID: 31443616
[TBL] [Abstract][Full Text] [Related]
8. An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer.
Hernández-Martín A; Duat-Rodríguez A
Actas Dermosifiliogr; 2016; 107(6):465-73. PubMed ID: 26956402
[TBL] [Abstract][Full Text] [Related]
9. Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S; Thomas N; Cooper DN; Upadhyaya M
Hum Genomics; 2011 Oct; 5(6):623-90. PubMed ID: 22155606
[TBL] [Abstract][Full Text] [Related]
10. Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma.
Vannelli S; Buganza R; Runfola F; Mussinatto I; Andreacchio A; de Sanctis L
Ital J Pediatr; 2020 May; 46(1):58. PubMed ID: 32393377
[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. Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
Zhang J; Tong H; Fu X; Zhang Y; Liu J; Cheng R; Liang J; Peng J; Sun Z; Liu H; Zhang F; Lu W; Li M; Yao Z
Sci Rep; 2015 Jun; 5():11291. PubMed ID: 26056819
[TBL] [Abstract][Full Text] [Related]
13. The NF1 somatic mutational landscape in sporadic human cancers.
Philpott C; Tovell H; Frayling IM; Cooper DN; Upadhyaya M
Hum Genomics; 2017 Jun; 11(1):13. PubMed ID: 28637487
[TBL] [Abstract][Full Text] [Related]
14. Analysis of neurofibromatosis 1 (NF1) lesions by body segment.
Palmer C; Szudek J; Joe H; Riccardi VM; Friedman JM
Am J Med Genet A; 2004 Mar; 125A(2):157-61. PubMed ID: 14981716
[TBL] [Abstract][Full Text] [Related]
15. Hereditary spinal neurofibromatosis: a rare form of NF1?
Poyhonen M; Leisti EL; Kytölä S; Leisti J
J Med Genet; 1997 Mar; 34(3):184-7. PubMed ID: 9132486
[TBL] [Abstract][Full Text] [Related]
16. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].
Sabol Z; Kipke-Sabol L
Lijec Vjesn; 2005; 127(11-12):303-11. PubMed ID: 16583938
[TBL] [Abstract][Full Text] [Related]
17. Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1.
Tanito K; Ota A; Kamide R; Nakagawa H; Niimura M
J Dermatol; 2014 Aug; 41(8):724-8. PubMed ID: 25041723
[TBL] [Abstract][Full Text] [Related]
18. The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
Trevisson E; Morbidoni V; Forzan M; Daolio C; Fumini V; Parrozzani R; Cassina M; Midena E; Salviati L; Clementi M
Mol Genet Genomic Med; 2019 May; 7(5):e616. PubMed ID: 30843352
[TBL] [Abstract][Full Text] [Related]
19. Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype.
Kwong HL; Tay YK; Tan EC
F1000Res; 2021; 10():148. PubMed ID: 34164111
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]