426 related articles for article (PubMed ID: 17704776)
1. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Brems H; Chmara M; Sahbatou M; Denayer E; Taniguchi K; Kato R; Somers R; Messiaen L; De Schepper S; Fryns JP; Cools J; Marynen P; Thomas G; Yoshimura A; Legius E
Nat Genet; 2007 Sep; 39(9):1120-6. PubMed ID: 17704776
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. [Germinal loss-of-function mutations in the spred1 gene cause conditions similar to neurofibromatosis type 1].
Dereure O
Ann Dermatol Venereol; 2008; 135(6-7):529-30. PubMed ID: 18598812
[No Abstract] [Full Text] [Related]
6. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
Nyström AM; Ekvall S; Strömberg B; Holmström G; Thuresson AC; Annerén G; Bondeson ML
Acta Paediatr; 2009 Apr; 98(4):693-8. PubMed ID: 19120036
[TBL] [Abstract][Full Text] [Related]
7. Review and update of SPRED1 mutations causing Legius syndrome.
Brems H; Pasmant E; Van Minkelen R; Wimmer K; Upadhyaya M; Legius E; Messiaen L
Hum Mutat; 2012 Nov; 33(11):1538-46. PubMed ID: 22753041
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk S; Jim HP; Thomas L; Spurlock G; Fares L; Palmer-Smith S; Kini U; Saggar A; Patton M; Mautner V; Pilz DT; Upadhyaya M
Clin Genet; 2011 Jul; 80(1):93-6. PubMed ID: 21649642
[No Abstract] [Full Text] [Related]
11. Genetic and clinical considerations in six cases with neurofibromatosis type 1.
Buteică E; Stoicescu I; Burada F; Stănoiu B
Rom J Morphol Embryol; 2007; 48(3):243-8. PubMed ID: 17914490
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
Lee ST; Ki CS; Lee HJ
Clin Genet; 2007 Aug; 72(2):150-5. PubMed ID: 17661820
[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. 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]
17. Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage.
Charrow J; Listernick R; Ward K
Am J Med Genet; 1993 Mar; 45(5):606-8. PubMed ID: 8456833
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Hyperactive Ras in developmental disorders and cancer.
Schubbert S; Shannon K; Bollag G
Nat Rev Cancer; 2007 Apr; 7(4):295-308. PubMed ID: 17384584
[TBL] [Abstract][Full Text] [Related]
20. SPRED1 Interferes with K-ras but Not H-ras Membrane Anchorage and Signaling.
Siljamäki E; Abankwa D
Mol Cell Biol; 2016 Oct; 36(20):2612-25. PubMed ID: 27503857
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
