"Arthur Bergen"」に一致するユーザー プロフィール

Arthur Bergen

Hoogleraar complexe Ophthalmogenetica
確認したメール アドレス: amc.uva.nl
被引用数: 18430

A structure preserving model for power system stability analysis

AR Bergen, DJ Hill - IEEE transactions on power apparatus …, 1981 - ieeexplore.ieee.org
A new model for the study of power system stability via Lyapunov functions is proposed. The
key feature of the model is an assumption of frequency-dependent load power, rather than …

Identification of the gene responsible for Best macular dystrophy

K Petrukhin, MJ Koisti, B Bakall, W Li, G Xie… - Nature …, 1998 - nature.com
Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM
153700), is an autosomal dominant form of macular degeneration characterized by an …

Mutations in ABCC6 cause pseudoxanthoma elasticum

AAB Bergen, AS Plomp, EJ Schuurman, S Terry… - Nature …, 2000 - nature.com
Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients
frequently experience visual field loss and skin lesions, and occasionally cardiovascular …

The dynamic nature of Bruch's membrane

JC Booij, DC Baas, J Beisekeeva… - Progress in retinal and …, 2010 - Elsevier
Bruch's membrane (BM) is a unique pentalaminar structure, which is strategically located
between the retinal pigment epithelium (RPE) and the fenestrated choroidal capillaries of the …

Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR

FPM Cremers, DJR van de Pol… - Human molecular …, 1998 - academic.oup.com
Ophthalmological and molecular genetic studies were performed in a consanguineous
family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). …

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

AI den Hollander, JB ten Brink, YJM de Kok… - Nature …, 1999 - nature.com
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of
diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer …

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

VJM Verhoeven, PG Hysi, R Wojciechowski, Q Fan… - Nature …, 2013 - nature.com
Refractive error is the most common eye disorder worldwide and is a prominent cause of
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …

[HTML][HTML] Prevalence of age-related macular degeneration in Europe: the past and the future

JM Colijn, GHS Buitendijk, E Prokofyeva, D Alves… - Ophthalmology, 2017 - Elsevier
Purpose Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly
of European ancestry. Risk profiles and treatment options have changed considerably over …

Positional cloning of the gene for X-linked retinitis pigmentosa 2

U Schwahn, S Lenzner, J Dong, S Feil, B Hinzmann… - Nature …, 1998 - nature.com
X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci,
designated RP2 and RP3, located at Xp11. 3 and Xp21. 1, respectively. The RP3 gene was …

Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration

DDG Despriet, CCW Klaver, JCM Witteman… - Jama, 2006 - jamanetwork.com
ContextThe evidence that inflammation is an important pathway in age-related macular
degeneration (AMD) is growing. Recent case-control studies demonstrated an association …