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Results: 1 to 20 of 124

1.

Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

Parisi P, Persechino S, Paolino MC, Nicita F, Torrente I, Bozzao A, Villa MP.

Ital J Pediatr. 2013 Feb 11;39:10. doi: 10.1186/1824-7288-39-10.

PMID:
23399325
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

[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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.
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
[PubMed - indexed for MEDLINE]
6.

[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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

[Developmental manifestation in children with neurofibromatosis type 1].

Cohen R, Shuper A.

Harefuah. 2010 Jan;149(1):49-52, 61. Review. Hebrew.

PMID:
20422842
[PubMed - indexed for MEDLINE]
9.

[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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
23244495
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.

Faravelli F, Upadhyaya M, Osborn M, Huson SM, Hayward R, Winter R.

J Med Genet. 1999 Dec;36(12):893-6.

PMID:
10593996
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN.

J Med Genet. 2009 Jul;46(7):425-30. doi: 10.1136/jmg.2008.065243. Epub 2009 Apr 14.

PMID:
19366998
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A.

Am J Med Genet A. 2009 Jun;149A(6):1263-7. doi: 10.1002/ajmg.a.32837.

PMID:
19449407
[PubMed - indexed for MEDLINE]
17.

[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
[PubMed - indexed for MEDLINE]
18.

[Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome].

Wimmer K.

Wien Med Wochenschr. 2005 Jun;155(11-12):273-80. German.

PMID:
16035388
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

[Neurofibromatosis type 1 and associated clinical abnormalities in 27 children].

Syrbe S, Eberle K, Strenge S, Bernhard MK, Herbertz S, Bierbach U, Hirsch W, Froster UG, Kiess W, Merkenschlager A.

Klin Padiatr. 2007 Nov-Dec;219(6):326-32. German.

PMID:
18183640
[PubMed - indexed for MEDLINE]

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