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Genetische und epigenetische Einflüsse auf den Pubertätsverlauf in Bezug auf Pubertas praecox vera und Pubertas tarda
BackgroundThe onset of puberty is controlled by the complex interaction of genetic, environmental and epigenetic factors. The (re)activation of...
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Krankheitsmodifizierende Therapieansätze bei der Huntington-Krankheit
Huntington disease (HD) is the most frequent monogenetic neurodegenerative disease and can be unequivocally diagnosed even in the preclinical stage,...
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Monogene Varianten in „laccase domain-containing 1“ (LACC1) als Ursache einer juvenilen Arthritis
Monogenic mutations in laccase domain-containing 1 ( LACC1 ) are associated with clinical pictures that mimic severe courses of polyarticular or...
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Pathogenese der Hidradenitis suppurativa/Acne inversa
Hidradenitis suppurativa/acne inversa (HS) has a multifactorial pathogenesis. In addition to a sporadic form, a familial form is reported in around...
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Molekulargenetische Diagnostik des Diabetes mellitus
Diabetes mellitus is a heterogeneous group of diseases characterized by chronic hyperglycemia. For monogenic diabetes, molecular genetics is well...
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Adipositas und Gehirngesundheit
ObjectiveHow do overweight and obesity link to brain structure and function? To answer this question and to identify the underlying mechanisms, we...
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Pathogenese der Großgefäßvaskulitiden
Large vessel vasculitides comprise two distinct entities, giant cell arteritis (GCA) and Takayasu arteritis (TAK). GCA is the most common vasculitis...
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Diagnostik und Therapie der spinalen Muskelatrophie (SMA) bei Erwachsenen
Proximal spinal muscular atrophy (SMA) is a hereditary progressive neuromuscular disorder with a variable clinical presentation of progressive...
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Idiopathische Lungenfibrose – Epidemiologie, Ursachen und klinischer Verlauf
Idiopathic pulmonary fibrosis (IPF) plays a special role within the group of interstitial lung diseases (ILDs) due to its inexorable progression and...
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Erweitertes Verständnis von Pathogenese und Therapie der Kontaktallergie
BackgroundWhile the pathogenesis of contact allergy in recent years has increasingly focused on the mechanisms of the innate immune response, valid...
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Chordome: Gibt es eine molekulargenetische Grundlage für Diagnostik und Therapie?
Chordomas are malignant bone tumours with a reported annual incidence of 0.08 per 100,000 cases. They show a notochordal differentiation and are...
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Neuroinflammation als Motor der Alzheimer-Erkrankung
Sporadic Alzheimer’s disease is the most common neurodegenerative disorder and represents a very important public healthcare problem with a...
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Primär sklerosierende Cholangitis
Primary sclerosing cholangitis (PSC) is a chronic progressive cholestatic liver disease characterized by multi-focal bile duct strictures and a high...
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Genderinkongruenz, das Gehirn und die Hormone
People with gender incongruence (GI) and gender nonconforming identities are increasingly visible in the public and in the media. As an umbrella term...
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Androgene und weibliche Libido
BackgroundHypoactive sexual desire disorder (HSDD) in women is a common complaint—and the demand for androgen substitution in affected women is...