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Items: 17

1.

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. doi: 10.1177/0883073809359540. Epub 2010 Feb 22.

2.

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

Brems H, Legius E.

Keio J Med. 2013;62(4):107-12. Epub 2013 Dec 10. 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. Epub 2012 Aug 1. Review.

PMID:
22753041
4.

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.

5.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J, Li M, Yao Z.

Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Review.

6.

Café au lait spots: the pediatrician's perspective.

Tekin M, Bodurtha JN, Riccardi VM.

Pediatr Rev. 2001 Mar;22(3):82-90. Review. No abstract available.

PMID:
11230626
7.

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. Epub 2013 Dec 5. Review.

PMID:
24311457
8.

Neurofibromatosis type 1.

Boyd KP, Korf BR, Theos A.

J Am Acad Dermatol. 2009 Jul;61(1):1-14; quiz 15-6. doi: 10.1016/j.jaad.2008.12.051. Review.

9.

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.

10.

[Neurofibromatosis type 1 or Von Recklinghausen's disease].

Pinson S, Wolkenstein P.

Rev Med Interne. 2005 Mar;26(3):196-215. Review. French.

PMID:
15777582
11.

[Neurofibromatosis in children. Our experience].

López-Pisón J, Cuadrado-Martín M, Boldova-Aguar MC, Muñoz-Mellado A, Cabrerizo de Diago R, Peña-Segura JL.

Rev Neurol. 2003 Nov 1-15;37(9):820-5. Review. Spanish.

12.

The diagnostic and clinical significance of café-au-lait macules.

Shah KN.

Pediatr Clin North Am. 2010 Oct;57(5):1131-53. doi: 10.1016/j.pcl.2010.07.002. Review.

PMID:
20888463
13.

Neurofibromatosis 1 in childhood.

North KN.

Semin Pediatr Neurol. 1998 Dec;5(4):231-42. Review.

PMID:
9874851
14.

Type I neurofibromatosis: a geno-oculo-dermatologic update.

Schnur RE.

Curr Opin Ophthalmol. 2012 Sep;23(5):364-72. doi: 10.1097/ICU.0b013e3283570127. Review.

PMID:
22871881
15.

[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
16.

Legius Syndrome.

Stevenson D, Viskochil D, Mao R.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2010 Oct 14 [updated 2015 Jan 15].

17.

The Neurofibromatoses. Part 1: NF1.

Lu-Emerson C, Plotkin SR.

Rev Neurol Dis. 2009 Spring;6(2):E47-53. Review.

PMID:
19587630

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