Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Neurofibromatose

Die Neurofibromatose ist eine Erbkrankheit, Neurofibrome(gutartige Nierentumore) gekennzeichnet ist.

Symptome

Cafe-au-lait-Flecke
Die Neurofibromatose ist wohl die wichtigste Erkrankung mit Cafe-au-lait-Flecken.

Gliederung

Erbliche Tumorerkrankungen
Hereditäre Hirntumoren
Hereditäre Nierentumoren
Hereditäre maligne Bluterkrankungen
Infantiles kapilläres Hämangiom
Karzinoidtumore der Lunge
Lipom
Lymphangioleiomyomatose
Magenkarzinom
Multiple selbsheilende palmoplantare Karzinome
Neigung zu Kaposi-Sarkomen
Neurofibromatose
Legius-Syndrom
SPRED1
Neurofibromatose 1
NF1
Neurofibromatose-Noonan-Syndrom
NF1
Noonan-Syndrom 6
TRHR
Spinale Form der Neurofibromatose
NF1
Watson-Syndrome
NF1

Referenzen:

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2.

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155.

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189.

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Parsa CF et al. (2001) Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging.

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Hamilton SJ et al. (2001) Cardiac findings in an individual with neurofibromatosis 1 and sudden death.

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Serra E et al. (2001) Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

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Leroy K et al. (2001) Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients.

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Gutmann DH et al. (2001) Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes.

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Costa RM et al. (2002) Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1.

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Sperfeld AD et al. (2002) Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2.

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Zhu Y et al. (2002) Neurofibromas in NF1: Schwann cell origin and role of tumor environment.

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Evans DG et al. (2002) Malignant peripheral nerve sheath tumours in neurofibromatosis 1.

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Friedman JM et al. () Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.

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Kemkemer R et al. (2002) Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro.

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Rosser T et al. (2002) Neurofibromas in children with neurofibromatosis 1.

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218.

Gitler AD et al. (2003) Nf1 has an essential role in endothelial cells.

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Khosrotehrani K et al. (2003) Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients.

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Szudek J et al. (2003) Patterns of associations of clinical features in neurofibromatosis 1 (NF1).

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221.

Ruggieri M et al. (2003) From Aldrovandi's "Homuncio" (1592) to Buffon's girl (1749) and the "Wart Man" of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?

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Schrimsher GW et al. (2003) Visual-spatial performance deficits in children with neurofibromatosis type-1.

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223.

None (1952) Rickets and osteomalacia from renal tubule defects.

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224.

None (1953) Familial fibromatosis of small intestine.

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225.

HAYES DM et al. (1961) Von Recklinghausen's disease with massive intra-abdominal tumor and spontaneous hypoglycemia: metabolic studies before and after perfusion of abdominal cavity with nitrogen mustard.

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226.

MANLEY KA et al. (1961) Some heritable causes of gastrointestinal disease. Special reference to hemorrhage.

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227.

None (1962) Encapsulated glioma of the Sylvian fissure associated with neurofibromatosis. Report of a case with histopathological comparison of surgical lesion and autopsy specimen following recurrence.

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228.

D'AGOSTINO AN et al. (1963) SARCOMAS OF THE PERIPHERAL NERVES AND SOMATIC SOFT TISSUES ASSOCIATED WITH MULTIPLE NEUROFIBROMATOSIS (VON RECKLINGHAUSEN'S DISEASE).

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229.

None (1964) AXILLARY FRECKLING AS A DIAGNOSTIC AID IN NEUROFIBROMATOSIS.

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230.

None (1961) [Hereditary neurofibromatosis with a wide phenotypic spectrum (the family Sn.)].

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231.

Vandenbroucke I et al. (2004) Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.

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None (2003) It takes two to tango: mast cell and Schwann cell interactions in neurofibromas.

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233.

Yang FC et al. (2003) Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells.

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234.

Liu GT et al. (2004) Optic radiation involvement in optic pathway gliomas in neurofibromatosis.

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235.

Thiagalingam S et al. (2004) Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients.

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236.

Lee V et al. (2004) Orbitotemporal neurofibromatosis. Clinical features and surgical management.

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Coffin CM et al. (2004) Non-neurogenic sarcomas in four children and young adults with neurofibromatosis type 1.

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None (1950) Sarcomatous transformation in multiple neuro-fibromatosis (von Recklinghausen's disease) report of four cases.

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239.

Khosrotehrani K et al. (2005) Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients.

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240.

Schievink WI et al. (2005) Frequency of incidental intracranial aneurysms in neurofibromatosis type 1.

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241.

Oguzkan S et al. (2006) Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene.

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242.

Lammert M et al. (2006) Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1.

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243.

Stevenson DA et al. (2006) Double inactivation of NF1 in tibial pseudarthrosis.

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244.

Bausch B et al. (2006) Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma.

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245.

Ferner RE et al. (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

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246.

McCaughan JA et al. (2007) Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1.

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247.

Tong JJ et al. (2007) Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster.

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248.

Bausch B et al. (2007) Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

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249.

Maertens O et al. (2007) Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

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250.

Yan J et al. (2008) Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1.

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251.

Williams VC et al. (2009) Neurofibromatosis type 1 revisited.

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252.

Snajderova M et al. (2012) The importance of advanced parental age in the origin of neurofibromatosis type 1.

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253.

Nguyen R et al. (2013) Growth behavior of plexiform neurofibromas after surgery.

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254.

Stewart DR et al. (2014) Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

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255.

Parrozzani R et al. (2015) In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients.

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Orphanet ID 637 external link
257.

Wikipedia Artikel

Wikipedia DE (Neurofibromatose) external link
Update: 14. August 2020
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