Search Results - "Møller, Hans Ulrik"
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IC3D Classification of Corneal Dystrophies—Edition 2
Published in Cornea (01-02-2015)“…PURPOSE:To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information…”
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IC3D Classification of Corneal Dystrophies-Edition 3
Published in Cornea (01-04-2024)“…The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current…”
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The Corneal Dystrophies—Does the Literature Clarify or Confuse?
Published in American journal of ophthalmology (01-11-2018)“…A 2010 New England Journal of Medicine (NEJM) case report entitled “Schnyder Crystalline Corneal Dystrophy” incorrectly reported that affected patients should…”
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von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance
Published in European journal of medical genetics (01-08-2022)“…von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell…”
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Prevalence of corneal dystrophies in the United States: estimates from claims data
Published in Investigative ophthalmology & visual science (14-01-2013)Get full text
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Is Tadpole Pupil in an Adolescent Girl Caused by Denervation Hypersensitivity?
Published in Neuropediatrics (01-06-2017)“…Tadpole pupil is a rarely encountered phenomenon caused by episodic, segmental iris dilator muscle spasm of short duration (2-15 minutes), occurring in…”
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von Hippel-Lindau disease: Surveillance strategy for endolymphatic sac tumors
Published in Genetics in medicine (01-12-2011)Get full text
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Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome
Published in British journal of ophthalmology (01-09-2012)“…A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction…”
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von Hippel-Lindau disease: Surveillance strategy for endolymphatic sac tumors
Published in Genetics in medicine (01-12-2011)“…Purpose: Up to 16% of patients with the hereditary von Hippel-Lindau disease develop endolymphatic sac tumors of the inner ear. Early diagnosis and treatment…”
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10
Diagnosis, monitoring and treatment of tuberous sclerosis complex
Published in Ugeskrift for læger (04-11-2019)“…Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with highly varying disease manifestations, many of which cause extensive morbidity…”
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Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata
Published in Clinical dysmorphology (01-04-2007)“…Interstitial deletions on the short arm of chromosome 1 are rare. We describe a girl with severe mental retardation, short stature and dysmorphic features…”
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Idiopathic intracranial hypertension is a rare cause of headache in children
Published in Ugeskrift for læger (04-03-2013)“…Idiopathic intracranial hypertension is often believed to be an illness exclusively occurring in obese women in their twenties and thirties. This case…”
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Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition
Published in Danish medical journal (01-12-2013)“…These clinical guidelines outline the criteria and recommendations for diagnostic and genetic work-up of families suspected of von Hippel-Lindau disease (vHL),…”
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Published in Human genetics (01-12-2021)“…Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense…”
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Pathology and pathomechanisms of epithelial microcystic and basement membrane abnormalities of the cornea
Published in Acta ophthalmologica (01-06-1988)“…Four patients with 'microcystic epithelial abnormality' were studied. Photographs demonstrated biomicroscopically visible alterations taking place over months…”
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Dystrophy: a revised definition
Published in Journal of medical genetics (01-12-1989)“…Dystrophy is defined as the process and consequences of hereditary progressive affections of specific cells in one or more tissues that initially show a normal…”
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Corneal deposits associated with flecainide
Published in BMJ (02-03-1991)“…Flecainide is a potent antiarrhythmic drug (class IC) for the treatment of ventricular and supraventricular tachycardias. Recently, proarrhythmogenic events…”
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18
Thrombolytic therapy preserves vagal activity early after acute myocardial infarction
Published in Scandinavian cardiovascular journal : SCJ (2001)“…The purpose of this study was to evaluate the effects of thrombolytic therapy on vagal tone after acute myocardial infarction (AMI). Holter monitoring for 24 h…”
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