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Results: 14

1.

The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.

Acosta MT, Bearden CE, Castellanos FX, Cutting L, Elgersma Y, Gioia G, Gutmann DH, Lee YS, Legius E, Muenke M, North K, Parada LF, Ratner N, Hunter-Schaedle K, Silva AJ.

Am J Med Genet A. 2012 Sep;158A(9):2225-32. doi: 10.1002/ajmg.a.35535. Epub 2012 Jul 20. Review. Erratum in: Am J Med Genet A. 2013 Jan;161A(1):236. Castellanos, Xavier F [corrected to Castellanos, F Xavier].

PMID:
22821737
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.

Stowe IB, Mercado EL, Stowe TR, Bell EL, Oses-Prieto JA, Hernández H, Burlingame AL, McCormick F.

Genes Dev. 2012 Jul 1;26(13):1421-6. doi: 10.1101/gad.190876.112.

PMID:
22751498
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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. doi: 10.1534/g3.111.000687. Epub 2011 Nov 1.

PMID:
22384355
[PubMed]
Free PMC Article
4.

Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes.

Rodriguez FJ, Stratakis CA, Evans DG.

Acta Neuropathol. 2012 Mar;123(3):349-67. doi: 10.1007/s00401-011-0935-7. Epub 2011 Dec 31. Review.

PMID:
22210082
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms.

Carroll SL.

Acta Neuropathol. 2012 Mar;123(3):321-48. doi: 10.1007/s00401-011-0928-6. Epub 2011 Dec 11. Review.

PMID:
22160322
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.

Quintáns B, Pardo J, Campos B, Barros F, Volpini V, Carracedo A, Sobrido MJ.

Case Rep Neurol. 2011 Apr 11;3:86-90. doi: 10.1159/000327557.

PMID:
21532985
[PubMed]
Free PMC Article
7.

Observations on intelligence and behavior in 15 patients with Legius syndrome.

Denayer E, Descheemaeker MJ, Stewart DR, Keymolen K, Plasschaert E, Ruppert SL, Snow J, Thurm AE, Joseph LA, Fryns JP, Legius E.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):123-8. doi: 10.1002/ajmg.c.30297. Epub 2011 Apr 14.

PMID:
21495177
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The pathoetiology of neurofibromatosis 1.

Jouhilahti EM, Peltonen S, Heape AM, Peltonen J.

Am J Pathol. 2011 May;178(5):1932-9. doi: 10.1016/j.ajpath.2010.12.056. Epub 2011 Mar 31. Review.

PMID:
21457932
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Noonan syndrome and clinically related disorders.

Tartaglia M, Gelb BD, Zenker M.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Review.

PMID:
21396583
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Back to the future: proceedings from the 2010 NF Conference.

Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG.

Am J Med Genet A. 2011 Feb;155A(2):307-21. doi: 10.1002/ajmg.a.33804. Epub 2010 Dec 22.

PMID:
21271647
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Identification of SPRED2 (sprouty-related protein with EVH1 domain 2) as a negative regulator of the hypothalamic-pituitary-adrenal axis.

Ullrich M, Bundschu K, Benz PM, Abesser M, Freudinger R, Fischer T, Ullrich J, Renné T, Walter U, Schuh K.

J Biol Chem. 2011 Mar 18;286(11):9477-88. doi: 10.1074/jbc.M110.171306. Epub 2011 Jan 3.

PMID:
21199868
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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. doi: 10.1002/humu.21404.

PMID:
21089071
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Tartaglia M, Gelb BD.

Ann N Y Acad Sci. 2010 Dec;1214:99-121. doi: 10.1111/j.1749-6632.2010.05790.x. Epub 2010 Oct 19. Review.

PMID:
20958325
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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. doi: 10.1002/ajmg.a.33525.

PMID:
20602485
[PubMed - indexed for MEDLINE]
Free PMC Article

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