Search Results - "TIJMES, Nel"

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands by FLORIJN, Ralph J, LOVES, Willem, DE BUY WENNIGER-PRICK, Liesbeth J. J. M. Maillette, MANNENS, Marcel M. A. M, TIJMES, Nel, BROOKS, Simon P, HARDCASTLE, Alison J, BERGEN, Arthur A. B

“…Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract,…”
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Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum by van den Berg, J S, Hennekam, R C, Cruysberg, J R, Steijlen, P M, Swart, J, Tijmes, N, Limburg, M

“…Pseudoxanthoma elasticum (PXE) is an heritable connective tissue disorder with clinical manifestations of the ocular, dermal, and cardiovascular system. The…”
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An analysis of visual functioning and cerebral visual impairments in children with profound intellectual and multiple disabilities by Steendam, Marieke, Wallroth, Marjolein, Tijmes, Nel, van der Putten, Annette, Waninge, Aly

“…The aim of this study was to gain insight into the visual functioning of children with profound intellectuual and multiple disabilities (PIMD). A mixed methods…”
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Changes in causes of low vision between 1988 and 2009 in a Dutch population of children by Boonstra, Nienke, Limburg, Hans, Tijmes, Nel, van Genderen, Maria, Schuil, José, van Nispen, Ruth

“… Purpose:  Causes of low vision in the Netherlands may have changed over time. The purpose of this study is to assess trends over the last two decades…”
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Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR by Cremers, Frans P. M., van de Pol, Dorien J. R., van Driel, Marc, den Hollander, Anneke I., van Haren, Frank J. J., Knoers, Nine V. A. M., Tijmes, Nel, Bergen, Arthur A. B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J. L. G., Deutman, August F., Hoyng, Carel B.

“…Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod…”
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The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease by Maugeri, Alessandra, van Driel, Marc A., van de Pol, Dorien J.R., Klevering, B. Jeroen, van Haren, Frank J.J., Tijmes, Nel, Bergen, Arthur A.B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J.L.G., Dahl, Niklas, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P.M.

“…In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter ( ABCR)…”
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Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

“…X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in…”
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A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1 by van Soest, S, Swart, J, Tijmes, N, Sandkuijl, L A, Rommers, J, Bergen, A A

“…Pseudoxanthoma elasticum (PXE) is a heritable systemic disorder characterized by calcification of the elastic fibers of the connective tissue. Symptoms are…”
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A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome by Assink, Jacqueline J.M., Tijmes, Nel T., Brink, Jacoline B. ten, Oostra, Roelof-Jan, Riemslag, Frans C., de Jong, Paulus T.V.M., Bergen, Arthur A.B.

“…The aim of this study was to identify the chromosomal location of the disease-causing gene in a family apparently segregating X-linked optic atrophy. A large…”
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Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene by TIJMES, NEL T, BERGEN, ARTHUR A B, DE JONG, PAULUS T V M

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Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region by Bergen, A A, ten Brink, J B, Riemslag, F, Schuurman, E J, Tijmes, N

“…X-linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterized by decreased visual acuity and loss of night vision…”
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Two families with dyshidrotic ectodermal dysplasia associated with ingrowth of corneal vessels, limbal hair growth, and Bitôt-like conjunctival anomalies by Tijmes, Nel T., Zaal, Michel J. W., Jong, Paulus T.V.M. De, Völker-Dieben, Hennie J. M.

“…Five cases from two unrelated families with a hitherto unknown combination of dyshidrotic ectodermal dysplasia with corneal vessel in growth, limbal hair…”
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Hemoglobin content and projection area of erythrocytes as indication of cell age by Morselt, A F, Tijmes, N T

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