Search Results - "Van Dorp, D B"

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type by BERGEN, A. A. B, SAMANNS, C, SCHUURMAN, E. J. M, VAN OSCH, L, VAN DORP, D. B, PINCKERS, A. J. L. G, BAKKER, E, GAL, A, VAN OMMEN, G. J. B, BLEEKER-WAGEMAKERS, E. M

“…An extensive linkage analysis was performed by studying ten Xp22 loci in ten families segregating for X-linked ocular albinism of the Nettleship-Falls type…”
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Linkage analysis in X-linked congenital stationary night blindness by Aldred, M A, Dry, K L, Sharp, D M, Van Dorp, D B, Brown, J, Hardwick, L J, Lester, D H, Pryde, F E, Teague, P W, Jay, M

“…X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity,…”
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A family with RP3 type of X-linked retinitis pigmentosa : an association with ciliary abnormalities by VAN DORP, D. B, WRIGHT, A. F, CAROTHERS, A. D, BLEEKER-WAGEMAKERS, E. M

“…The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only…”
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Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis by Bergen, A A, Schuurman, E J, van den Born, L I, Samanns, C, van Dorp, D B, Pinckers, A J, Bakker, E, van Ommen, G J, Gal, A, Bleeker-Wagemakers, E M

“…X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary…”
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Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20) by van Dorp, D B

“…After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were examined, together with their heterozygote…”
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Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin by Wijermans, P W, van Dorp, D B

“…The effect of the synthetic vasopressin derivative 1-desamino-8D-arginine vasopressin (DDAVP = desmopressin) on bleeding time was studied in three patients…”
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Albinism: phenotype or genotype? by VAN DORP, D. B, VAN HAERINGEN, N. J, DELLEMAN, J. W, APKARIAN, P, WESTERHOF, W

“…As part of a combined ophthalmological, genetic, clinical, biochemical, ultrastructural and electro-physiological study of albinism we have examined over one…”
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Linkage analysis in a family with complete type congenital stationary night blindness with and without myopia by Dry, K L, Van Dorp, D B, Aldred, M A, Brown, J, Hardwick, L J, Wright, A F

“…A family is described with X-linked congenital stationary night blindness of the complete type (CSNB1) in which clinical variation between affected males…”
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Albinotic characteristics in congenital nystagmus by van Dorp, D B

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Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship by van Dorp, D B, Palan, A, Kwee, M L, Barth, P G, van der Harten, J J

“…A severely retarded male child with Joubert syndrome is described. He had severe neurological anomalies including Dandy-Walker malformation, hypoplasia of the…”
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Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis by Bergen, A A, Samanns, C, Van Dorp, D B, Ferguson-Smith, M A, Gal, A, Bleeker-Wagemakers, E M

“…Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from…”
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Aland eye disease: no albino misrouting by van Dorp, D B, Eriksson, A W, Delleman, J W, van Vliet, A G, Collewijn, H, van Balen, A T, Forsius, H R

“…Electrophysiological studies showed that a patient with Aland eye disease had no misrouting of the optic pathways which is always found in all forms of…”
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Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence by van Dorp, D B, Delleman, J W, Loewer-Sieger, D H

“…We report on 6 patients out of a group of 86 albinos, with an additional eye defect: an anterior chamber cleavage disorder, i.e. a frequency of 7%. Given this…”
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The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time by Van Dorp, D B, Wijermans, P W, Meire, F, Vrensen, G

“…The effect of the synthetic vasopressin derivative 1-desamino-8D-arginine vasopressin (DDAVP = Minrin) on bleeding time was studied in nine patients with…”
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Tuberous sclerosis. Diagnostic problems in a family by van Dorp, D B, Kwee, M L

“…This paper describes a family in which the first child, a girl born in 1988, has tuberous sclerosis (TS). The 28-year-old mother had no symptoms of TS but at…”
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Fluorescein angiography in potential carriers for choroideremia. An additional aid for final diagnosis, when funduscopy shows equivocal symptoms by van Dorp, D B, van Balen, A T

“…As an extension of a large pedigree with choroideremia, described by Kurstjens in 1965, a family will be presented. A daughter of an affected male presented…”
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A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies by van Dorp, D B, Delleman, J W

“…An investigation has been made in a family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear, and dental anomalies…”
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Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3) by Dry, Katherine L., Manson, Forbes D.C., Lennon, Alan, Bergen, Arthur A.B., Van Dorp, Dieuwke B., Wright, Alan F.

“…We have identified a novel RPGR gene mutation in a large Dutch family with X‐linked retinitis pigmentosa (RP3). In affected members, a G→T transversion was…”
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Kabuki syndrome ? Report of six cases and review of the literature with emphasis on ocular features by Kluijt, I., van Dorp, D.B., Kwee, M.L., Toutain, A., Keppler-Noreuil, K., Warburg, M., Bitoun, P.

“…Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is…”
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Chopart Joint Injury: A Study of Outcome and Morbidity by van Dorp, Karin B., MD, de Vries, Mark R., MD, PhD, van der Elst, Maarten, MD, PhD, Schepers, Tim, MD, PhD

“…Abstract Injuries involving the Chopart joint complex are relatively rare and frequently missed or misdiagnosed, often leading to a poor functional outcome…”
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