166 related articles for article (PubMed ID: 21365283)
1. Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
Pizzuti A; Bottillo I; Inzana F; Lanari V; Buttarelli F; Torrente I; Giallonardo AT; De Luca A; Dallapiccola B
Neurogenetics; 2011 Aug; 12(3):233-40. PubMed ID: 21365283
[TBL] [Abstract][Full Text] [Related]
2. Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.
Nicita F; Torrente I; Spalice A; Bottillo I; Papetti L; Pinna V; Ursitti F; Ruggieri M
J Clin Neurosci; 2014 Feb; 21(2):328-30. PubMed ID: 23954459
[TBL] [Abstract][Full Text] [Related]
3. Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
Kaufmann D; Müller R; Bartelt B; Wolf M; Kunzi-Rapp K; Hanemann CO; Fahsold R; Hein C; Vogel W; Assum G
Am J Hum Genet; 2001 Dec; 69(6):1395-400. PubMed ID: 11704931
[TBL] [Abstract][Full Text] [Related]
4. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.
Ruggieri M; Polizzi A; Spalice A; Salpietro V; Caltabiano R; D'Orazi V; Pavone P; Pirrone C; Magro G; Platania N; Cavallaro S; Muglia M; Nicita F
Clin Genet; 2015 May; 87(5):401-10. PubMed ID: 25211147
[TBL] [Abstract][Full Text] [Related]
5. Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.
Ning Z; Yang Z; Chen G; Wu W; He L; Sun Y; Cai D; Zhang W
Mol Genet Genomic Med; 2020 Jan; 8(1):e1035. PubMed ID: 31713330
[TBL] [Abstract][Full Text] [Related]
6. Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.
Ruggieri M; Polizzi A; Salpietro V; Incorpora G; Nicita F; Pavone P; Falsaperla R; Nucifora C; Granata F; Distefano A; Padua L; Caltabiano R; Lanzafame S; Gabriele AL; Ortensi A; D'Orazi V; Panunzi A; Milone P; Mankad K; Platania N; Albanese V; Pavone V
Neuropediatrics; 2013 Oct; 44(5):239-44. PubMed ID: 23780384
[TBL] [Abstract][Full Text] [Related]
7. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
[TBL] [Abstract][Full Text] [Related]
8. Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?
Yapijakis C; Pachis N; Natsis S; Voumvourakis C
In Vivo; 2016; 30(3):315-20. PubMed ID: 27107091
[TBL] [Abstract][Full Text] [Related]
9. Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case.
Carman Kb; Yakut A; Anlar B; Ayter S
BMJ Case Rep; 2013 Feb; 2013():. PubMed ID: 23417386
[TBL] [Abstract][Full Text] [Related]
10. Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.
de Raedt T; Cools J; Debiec-Rychter M; Brems H; Mentens N; Sciot R; Himpens J; de Wever I; Schöffski P; Marynen P; Legius E
Gastroenterology; 2006 Dec; 131(6):1907-12. PubMed ID: 17087943
[TBL] [Abstract][Full Text] [Related]
11. Segmental spinal neurofibromatosis 1: a novel phenotype.
Fatima N; La Dine A; Barnard ZR; Lekovic GP
Neurol Sci; 2022 Aug; 43(8):5103-5105. PubMed ID: 35595873
[TBL] [Abstract][Full Text] [Related]
12. Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1: a pathological and molecular explanation. Case report.
Feldkamp MM; Lau N; Provias JP; Gutmann DH; Guha A
J Neurosurg; 1996 May; 84(5):867-73. PubMed ID: 8622163
[TBL] [Abstract][Full Text] [Related]
13. Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.
Orzan F; Stroppi M; Venturin M; Valero MC; Hernández C; Riva P
Neurogenetics; 2008 May; 9(2):95-100. PubMed ID: 18196300
[TBL] [Abstract][Full Text] [Related]
14. [Familial schwannomatosis, a new entity distinct from neurofibromatosis type 1 and 2].
Reinders JW; Koehler PJ
Ned Tijdschr Geneeskd; 2007 Aug; 151(34):1891-5. PubMed ID: 17902564
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 20927530
[TBL] [Abstract][Full Text] [Related]
16. Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
Baralle D; Mattocks C; Kalidas K; Elmslie F; Whittaker J; Lees M; Ragge N; Patton MA; Winter RM; ffrench-Constant C
Am J Med Genet A; 2003 May; 119A(1):1-8. PubMed ID: 12707950
[TBL] [Abstract][Full Text] [Related]
17. Segmental neurofibromatosis type 1 complicated with multiple intracranial arteriovenous fistulas: A case study.
He D; Li Y; Yu Y; Cai G; Ouyang F; Lin Y; Lu H; Chu L
Clin Neurol Neurosurg; 2018 May; 168():108-111. PubMed ID: 29544172
[TBL] [Abstract][Full Text] [Related]
18. Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.
Brunner HG; Hulsebos T; Steijlen PM; der Kinderen DJ; vd Steen A; Hamel BC
Am J Med Genet; 1993 Jun; 46(4):472-4. PubMed ID: 8357027
[TBL] [Abstract][Full Text] [Related]
19. A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
Ars E; Kruyer H; Gaona A; Casquero P; Rosell J; Volpini V; Serra E; Lázaro C; Estivill X
Am J Hum Genet; 1998 Apr; 62(4):834-41. PubMed ID: 9529361
[TBL] [Abstract][Full Text] [Related]
20. The different forms of neurofibromatosis.
Ruggieri M
Childs Nerv Syst; 1999 Jul; 15(6-7):295-308. PubMed ID: 10461778
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
