282 related articles for article (PubMed ID: 20602485)
1. 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]
2. 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]
3. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG; Bowers N; Burkitt-Wright E; Miles E; Garg S; Scott-Kitching V; Penman-Splitt M; Dobbie A; Howard E; Ealing J; Vassalo G; Wallace AJ; Newman W; ; Huson SM
EBioMedicine; 2016 May; 7():212-20. PubMed ID: 27322474
[TBL] [Abstract][Full Text] [Related]
4. SPRED 1 mutations in a neurofibromatosis clinic.
Muram-Zborovski TM; Stevenson DA; Viskochil DH; Dries DC; Wilson AR; Rong Mao
J Child Neurol; 2010 Oct; 25(10):1203-9. PubMed ID: 20179001
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
Hirata Y; Brems H; Suzuki M; Kanamori M; Okada M; Morita R; Llano-Rivas I; Ose T; Messiaen L; Legius E; Yoshimura A
J Biol Chem; 2016 Feb; 291(7):3124-34. PubMed ID: 26635368
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
Brems H; Legius E
Keio J Med; 2013; 62(4):107-12. PubMed ID: 24334617
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
Denayer E; Legius E
Acta Derm Venereol; 2020 Mar; 100(7):adv00093. PubMed ID: 32147744
[TBL] [Abstract][Full Text] [Related]
11. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
Witkowski L; Dillon MW; Murphy E; S Lebo M; Mason-Suares H
Mol Genet Genomic Med; 2020 Apr; 8(4):e1180. PubMed ID: 32107864
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.
Pasmant E; Gilbert-Dussardier B; Petit A; de Laval B; Luscan A; Gruber A; Lapillonne H; Deswarte C; Goussard P; Laurendeau I; Uzan B; Pflumio F; Brizard F; Vabres P; Naguibvena I; Fasola S; Millot F; Porteu F; Vidaud D; Landman-Parker J; Ballerini P
Oncogene; 2015 Jan; 34(5):631-8. PubMed ID: 24469042
[TBL] [Abstract][Full Text] [Related]
16. One
Pacot L; Burin des Roziers C; Laurendeau I; Briand-Suleau A; Coustier A; Mayard T; Tlemsani C; Faivre L; Thomas Q; Rodriguez D; Blesson S; Dollfus H; Muller YG; Parfait B; Vidaud M; Gilbert-Dussardier B; Yardin C; Dauriat B; Derancourt C; Vidaud D; Pasmant E
Genes (Basel); 2019 Aug; 10(9):. PubMed ID: 31443423
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T; Santoro C; Torella A; Del Vecchio Blanco F; Grandone A; Onore ME; Melone MAB; Straccia G; Melis D; Piccolo V; Limongelli G; Buono S; Perrotta S; Nigro V; Piluso G
Genes (Basel); 2019 Jul; 10(8):. PubMed ID: 31370276
[TBL] [Abstract][Full Text] [Related]
19. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
Spurlock G; Bennett E; Chuzhanova N; Thomas N; Jim HP; Side L; Davies S; Haan E; Kerr B; Huson SM; Upadhyaya M
J Med Genet; 2009 Jul; 46(7):431-7. PubMed ID: 19443465
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
