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Items: 1 to 20 of 101

1.

Neurofibromatosis 1.

Friedman JM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1998 Oct 2 [updated 2018 May 17].

2.

Clinical and genetic aspects of neurofibromatosis 1.

Jett K, Friedman JM.

Genet Med. 2010 Jan;12(1):1-11. doi: 10.1097/GIM.0b013e3181bf15e3. Review.

PMID:
20027112
3.

[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
4.

[Clinical diagnosis of neurofibromatosis type 1].

Wolkenstein P, Zeller J.

Presse Med. 1999 Dec 11;28(39):2174-80. French.

PMID:
10629698
5.

[Imaging features of neurofibromatosis type 1].

Jacques C, Dietemann JL.

J Neuroradiol. 2005 Jun;32(3):180-97. Review. French.

7.

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.

8.

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.

9.

An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer.

Hernández-Martín A, Duat-Rodríguez A.

Actas Dermosifiliogr. 2016 Jul-Aug;107(6):465-73. doi: 10.1016/j.ad.2016.01.009. Epub 2016 Mar 5. Review. English, Spanish.

PMID:
26956402
10.

[Managing children with neurofibromatosis type 1: what should we look for?].

Martins CL, Monteiro JP, Farias A, Fernandes R, Fonseca MJ.

Acta Med Port. 2007 Sep-Oct;20(5):393-400. Epub 2008 Jan 24. Portuguese.

11.

[Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease].

Bikowska-Opalach B, Jackowska T.

Med Wieku Rozwoj. 2013 Oct-Dec;17(4):334-40. Review. Polish.

12.

Neurofibromatosis type 1.

Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ.

Nat Rev Dis Primers. 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. Review.

PMID:
28230061
13.

Neurofibromatosis 1 in childhood.

North KN.

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

PMID:
9874851
14.

[Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic].

Petrák B, Bendová Š, Lisý J, Kraus J, Zatrapa T, Glombová M, Zámečník J.

Cesk Patol. 2015;51(1):34-40. Review. Czech.

PMID:
25671360
15.

Vulvar malignancy in neurofibromatosis syndrome.

Musella A, Palaia I, Domenici L, Casorelli A, Martoccia A, Benedetti Panici P.

Case Rep Obstet Gynecol. 2013;2013:217924. doi: 10.1155/2013/217924. Epub 2013 Sep 19.

16.

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
17.

[Neurofibromatosis type 1 and hypertension in pediatrics: case report].

Demarchi I, Genoni G, Prodam F, Petri A, Busti A, Cortese L, Negro M, Bellone S, Acucella G, Bona G.

Minerva Pediatr. 2011 Aug;63(4):335-9. Italian.

PMID:
21909069
18.

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
19.

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
20.

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.

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