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Items: 1 to 20 of 26

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.

PMID:
17704776
2.

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H, Legius E.

Keio J Med. 2013;62(4):107-12. Review.

3.

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. doi: 10.1002/humu.22152. Review.

PMID:
22753041
4.

Hyperactive Ras in developmental disorders and cancer.

Schubbert S, Shannon K, Bollag G.

Nat Rev Cancer. 2007 Apr;7(4):295-308. Review. Erratum in: Nat Rev Cancer. 2007 Jul;7(7):563.

PMID:
17384584
5.

Multiple café au lait spots in familial patients with MAP2K2 mutation.

Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K.

Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Review.

PMID:
24311457
6.

Bilateral segmental neurofibromatosis: a case report and review.

Gonzalez G, Russi ME, Lodeiros A.

Pediatr Neurol. 2007 Jan;36(1):51-3. Review.

PMID:
17162198
7.

[From gene to disease; neurofibromatosis type 1].

de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF.

Ned Tijdschr Geneeskd. 2001 Sep 8;145(36):1736-8. Review. Dutch.

PMID:
11572174
8.

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

Abramowicz A, Gos M.

Dev Period Med. 2014 Jul-Sep;18(3):297-306. Review.

9.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.

Hum Mutat. 2008 Aug;29(8):992-1006. doi: 10.1002/humu.20748. Review.

PMID:
18470943
10.

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB.

Horm Res. 2009;71(4):185-93. doi: 10.1159/000201106. Review.

11.

Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

Schubbert S, Bollag G, Shannon K.

Curr Opin Genet Dev. 2007 Feb;17(1):15-22. Review.

PMID:
17208427
12.

RAS diseases in children.

Niemeyer CM.

Haematologica. 2014 Nov;99(11):1653-62. doi: 10.3324/haematol.2014.114595. Review.

13.

The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature.

Borochowitz Z, Berant N, Dar H, Berant M.

Neurofibromatosis. 1989;2(5-6):309-14. Review.

PMID:
2518512
14.

Legius syndrome: case report and review of literature.

Benelli E, Bruno I, Belcaro C, Ventura A, Berti I.

Ital J Pediatr. 2015 Feb 8;41:8. doi: 10.1186/s13052-015-0115-9. Review.

15.

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE, Rauen KA.

Curr Opin Genet Dev. 2009 Jun;19(3):230-6. doi: 10.1016/j.gde.2009.04.001. Review.

16.

HRAS and the Costello syndrome.

Rauen KA.

Clin Genet. 2007 Feb;71(2):101-8. Review.

PMID:
17250658
17.

Sprouty proteins, masterminds of receptor tyrosine kinase signaling.

Cabrita MA, Christofori G.

Angiogenesis. 2008;11(1):53-62. doi: 10.1007/s10456-008-9089-1. Review.

PMID:
18219583
18.

[Segmental neurofibromatosis. Description of our 2d clinical case and review of the literature].

Calzavara Pinton PG, Carlino A, Marini D.

G Ital Dermatol Venereol. 1989 May;124(5):231-4. Review. Italian.

PMID:
2516009
19.

How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

Edouard T, Montagner A, Dance M, Conte F, Yart A, Parfait B, Tauber M, Salles JP, Raynal P.

Cell Mol Life Sci. 2007 Jul;64(13):1585-90. Review.

PMID:
17453145
20.

Neurofibromatosis 1: clinical manifestations and diagnostic criteria.

Friedman JM.

J Child Neurol. 2002 Aug;17(8):548-54; discussion 571-2, 646-51. Review.

PMID:
12403552
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