224 related articles for article (PubMed ID: 24469042)
21. Legius syndrome in fourteen families.
Denayer E; Chmara M; Brems H; Kievit AM; van Bever Y; Van den Ouweland AM; Van Minkelen R; de Goede-Bolder A; Oostenbrink R; Lakeman P; Beert E; Ishizaki T; Mori T; Keymolen K; Van den Ende J; Mangold E; Peltonen S; Brice G; Rankin J; Van Spaendonck-Zwarts KY; Yoshimura A; Legius E
Hum Mutat; 2011 Jan; 32(1):E1985-98. PubMed ID: 21089071
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. 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]
26. Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
Spencer E; Davis J; Mikhail F; Fu C; Vijzelaar R; Zackai EH; Feret H; Meyn MS; Shugar A; Bellus G; Kocsis K; Kivirikko S; Pöyhönen M; Messiaen L
Am J Med Genet A; 2011 Jun; 155A(6):1352-9. PubMed ID: 21548021
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Legius syndrome: A case report.
Kimura R; Yoshida Y; Maruoka R; Kosaki K; Yamamoto O
J Dermatol; 2017 Apr; 44(4):459-460. PubMed ID: 28378438
[TBL] [Abstract][Full Text] [Related]
29. Impaired instrumental learning in Spred1
Borrie SC; Horner AE; Yoshimura A; Legius E; Kopanitsa MV; Brems H
Genes Brain Behav; 2021 Jun; 20(5):e12727. PubMed ID: 33624414
[TBL] [Abstract][Full Text] [Related]
30. Legius syndrome: case report and review of literature.
Benelli E; Bruno I; Belcaro C; Ventura A; Berti I
Ital J Pediatr; 2015 Feb; 41():8. PubMed ID: 25883013
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.
Stevens CA; Chiang PW; Messiaen LM
Am J Med Genet A; 2012 May; 158A(5):1195-9. PubMed ID: 22438235
[TBL] [Abstract][Full Text] [Related]
33. A Pilot Study of Aberrant CpG Island Hypermethylation of
Sun J; Zhang J; Wang Y; Li Y; Zhang R
Int J Med Sci; 2019; 16(2):324-330. PubMed ID: 30745814
[No Abstract] [Full Text] [Related]
34. MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.
Borrie SC; Plasschaert E; Callaerts-Vegh Z; Yoshimura A; D'Hooge R; Elgersma Y; Kushner SA; Legius E; Brems H
Mol Autism; 2021 Jul; 12(1):53. PubMed ID: 34311771
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation.
Dunzendorfer-Matt T; Mercado EL; Maly K; McCormick F; Scheffzek K
Proc Natl Acad Sci U S A; 2016 Jul; 113(27):7497-502. PubMed ID: 27313208
[TBL] [Abstract][Full Text] [Related]
38. The SPRED1 Variants Repository for Legius Syndrome.
Sumner K; Crockett DK; Muram T; Mallempati K; Best H; Mao R
G3 (Bethesda); 2011 Nov; 1(6):451-6. PubMed ID: 22384355
[TBL] [Abstract][Full Text] [Related]
39. Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?
Orlandi V; Cavarzere P; Palma L; Gaudino R; Antoniazzi F
Ital J Pediatr; 2021 Mar; 47(1):50. PubMed ID: 33663580
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]