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Items: 1 to 20 of 190

1.

[Unusual clinical manifestations of type 1 neurofibromatosis].

Komlósi K, Polgár N, Hadzsiev K, Ottóffy G, Illés T, Dóczi T, Melegh B.

Orv Hetil. 2011 Dec 4;152(49):1965-70. doi: 10.1556/OH.2011.29241. Hungarian.

PMID:
22106164
2.

[Molecular genetic diagnosis of neurofibromatosis type I].

Polgár N, Komlósi K, Hadzsiev K, Illés T, Melegh B.

Orv Hetil. 2011 Mar 13;152(11):415-9. doi: 10.1556/OH.2011.29059. Hungarian.

PMID:
21362601
3.

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lázaro C.

J Med Genet. 2003 Jun;40(6):e82. No abstract available.

4.

[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
5.

Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.

Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S.

Genet Couns. 2009;20(2):195-202.

PMID:
19650418
6.

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

Van-Gils J, Harambat J, Jubert C, Vidaud D, Llanas B, Perel Y, Lacombe D, Goizet C.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):639-42. doi: 10.1016/j.ejmg.2014.09.001. Epub 2014 Sep 16.

PMID:
25234363
7.

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Aug 13;6:12. doi: 10.1186/1479-7364-6-12.

8.

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, Muglia M, Ungaro C, Di Palma G, Citrigno L, Sproviero W, Gambardella A, Quattrone A.

Childs Nerv Syst. 2011 Apr;27(4):635-8. doi: 10.1007/s00381-010-1282-z. Epub 2010 Oct 7.

PMID:
20927530
9.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A.

Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5.

10.

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.

11.

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 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. Erratum in: JAMA. 2010 Jun 23;303(24):2477.

PMID:
19920235
13.

Neurofibromatosis 1 in childhood.

North KN.

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

PMID:
9874851
14.

Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.

Yao R, Wang L, Yu Y, Wang J, Shen Y.

J Dermatol. 2016 May;43(5):537-42. doi: 10.1111/1346-8138.13169. Epub 2015 Oct 13.

PMID:
26458495
15.

Neurofibromatosis type I: genetics and clinical manifestations.

Savar A, Cestari DM.

Semin Ophthalmol. 2008 Jan-Feb;23(1):45-51. doi: 10.1080/08820530701745223. Review.

PMID:
18214791
16.

[Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].

Sabol Z, Kipke-Sabol L.

Lijec Vjesn. 2005 Nov-Dec;127(11-12):303-11. Review. Croatian.

PMID:
16583938
17.

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. doi: 10.1016/j.jaad.2007.03.013.

PMID:
18280349
18.

Hereditary spinal neurofibromatosis: a rare form of NF1?

Poyhonen M, Leisti EL, Kytölä S, Leisti J.

J Med Genet. 1997 Mar;34(3):184-7.

19.

Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype.

Terzi YK, Sirin B, Serdaroglu E, Anlar B, Aysun S, Hosgor G, Arslan EA, Ayter S.

Childs Nerv Syst. 2011 Dec;27(12):2113-6. doi: 10.1007/s00381-011-1512-z. Epub 2011 Jul 6.

PMID:
21732117
20.

Segmental neurofibromatosis in childhood.

Listernick R, Mancini AJ, Charrow J.

Am J Med Genet A. 2003 Aug 30;121A(2):132-5.

PMID:
12910491

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