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Multiple endokrine Neoplasie 1

Die multiple endokrine Neoplasie 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im MEN1-Gen ausgelöst wird.

Gliederung

Erbliche endokrinologische Erkrankungen
Autoimmune Polyendokrinopathie
Erbliche Erkrankungen der Hypophyse
Erkrankungen der Nebenschilddrüse
Genetische Erkrankungen der Hypophyse
Genetische Erkrankungen der Nebenniere
Hereditärer Diabetes insipidus
Multiple endokrine Neoplasie 1
MEN1
Nierenerkrankungen mit endokrinologischer Manifestation
Störungen der Regulation des Wachstums
Störungen der Sexualentwicklung
Störungen des Schilddrüsenhormonsystems

Referenzen:

1.

Courseaux A et al. (1996) Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).

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2.

Rochelle JM et al. (1992) A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus.

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3.

Simonds WF et al. (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

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4.

Bear JC et al. (1985) Variant multiple endocrine neoplasia I (MEN IBurin): further studies and non-linkage to HLA.

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5.

Farid NR et al. (1980) Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumors.

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6.

Chandrasekharappa SC et al. (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1.

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7.

Agarwal SK et al. (1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

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8.

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9.

Darling TN et al. (1997) Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1.

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10.

Heppner C et al. (1997) Somatic mutation of the MEN1 gene in parathyroid tumours.

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11.

Bassett JH et al. (1998) Characterization of mutations in patients with multiple endocrine neoplasia type 1.

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12.

Guru SC et al. (1998) Menin, the product of the MEN1 gene, is a nuclear protein.

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13.

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14.

Prezant TR et al. (1998) Molecular characterization of the men1 tumor suppressor gene in sporadic pituitary tumors.

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15.

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16.

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17.

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18.

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19.

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20.

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21.

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22.

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23.

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24.

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25.

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30.

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31.

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32.

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40.

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41.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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51.

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52.

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53.

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54.

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55.

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56.

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57.

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58.

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59.

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60.

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61.

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62.

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66.

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67.

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70.

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72.

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77.

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80.

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81.

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82.

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83.

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96.

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97.

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99.

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109.

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Update: 14. August 2020
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