Search Results - "van Amstel, HKP"

ClinGen HHT Variant Curation Expert Panel's Modified Variant Interpretation and Classification Guidelines by DeMille, D, McDonald, J, Bernabeu, C, Dupuis-Girod, S, Ganguly, A, Giraud, S, Ichikawa, S, Jessen, J, Jovine, L, Kasthuri, RS, Olivieri, C, van Amstel, HKP, Racher, H, Shovlin, CL, Bayrak-Toydemir, P

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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans by Dorland, Marinus, van Amstel, Hans Kristian Ploos, Beemer, Frits A, van den Boogaard, Marie-José H

“…A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense mutation (Ser104stop) in exon…”
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Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling? by HOCHSTENBACH, Ron, PLOOS VAN AMSTEL, Hans Kristian, POOT, Martin

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No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux by Giltay, Jacques C, van de Meerakker, Judith, van Amstel, Hans-Krisian Ploos, de Jong, Tom P V M

“…The uroplakin III (UPIII) knockout mouse provides a good model for human primary vesicoureteral reflux (VUR). Since to our knowledge no causative genes in…”
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A diagnostic protocol for adult-onset glycogen storage disease type II by AUSEMS, M. G. E. M, LOCHMAN, P, VAN DIGGELEN, O. P, PLOOS VAN AMSTEL, H. K, REUSER, A. J. J, WOKKE, J. H. J

“…To analyze the diagnostic value of various laboratory tests for the confirmation of adult-onset glycogen storage disease type II (GSD II), we performed a…”
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A novel germline mutation of PTEN associated with brain tumours of multiple lineages by Staal, FJT, Van Der Luijt, RB, Baert, MRM, Van Drunen, J, Van Bakel, H, Peters, E, De Valk, I, Van Amstel, HKP, Taphoorn, MJB, Jansen, G H, Van Veelen, CWM, Burgering, B, Staal, GEJ

“…We have identified a novel germline mutation in the PTEN tumour suppressor gene. The mutation was identified in a patient with a glioma, and turned out to be a…”
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Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms by Knijnenburg, Jeroen, van der Burg, Marja, Nilsson, Philomeen, van Amstel, Hans Kristian Ploos, Tanke, Hans, Szuhai, Károly

“…A strategy is presented to select, pool and spot human BAC clones on an array in such a way that each spot contains five well performing BAC clones, covering…”
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Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite by Giltay, Jacques C., Brunt, Tibor, Beemer, Frits A., Wit, Jan-Maarten, Ploos van Amstel, Hans Kristian, Pearson, Peter L., Wijmenga, Cisca

“…True hermaphroditism in humans usually is associated with a 46,XX karyotype or with mosaicism in which admixtures of cells with an XX and an XY karyotype are…”
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Predictive DNA testing for multiple endocrine neoplasia 2: A therapeutic challenge of prophylactic thyroidectomy in very young children by van Heurn, L.W.Ernest, Schaap, Cees, Sie, George, Haagen, Anton A.M., Gerver, Willem J., Freling, Gerard, van Amstel, Hans-Kristian Ploos, Heineman, Erik

“…Background: Patients with multiple endocrine neoplasia (MEN) type 2 are at risk for early medullary thyroid carcinoma (MTC). Recently, the cloning of the ret…”
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Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates by Spaapen, L. J. M., Bakker, J. A., Velter, C., Loots, W., Rubio‐Gonzalbo, M. E., Forget, P. P., Dorland, L., De Koning, T. J., Poll‐The, B. T., Ploos Van Amstel, H. K., Bekhof, J., Blau, N., Duran, M.

“…Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 μmol/L) were investigated further to differentiate between…”
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Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding by Roijers, De Wit, Van Der Luijt, Ploos van Amstel, Höppener, Lips

“…Background Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal, dominantly inherited cancer syndrome, with tumours in various endocrine glands. In 1997…”
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Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome by Kroes, Hester Y., Nievelstein, Rutger‐Jan A.J., Barth, Peter G., Nikkels, Peter G.J., Bergmann, Carsten, Gooskens, Rob H.J.M., Visser, Gepke, van Amstel, Hans‐Kristian Ploos, Beemer, Frits A.

“…We present a so far unrecognized X‐linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia,…”
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Mutational Analysis of Endothelial Cells Derived From von Hippel–Lindau-Related Renal Cancer by Los, Maartje, Kerckhaert, Olaf A. J., Zewald, Richard, van Amstel, Hans Kristian Ploos, Voest, Emile E.

“…The germline mutations could be detected in the DNA samples of the normal kidney tissue (Table 1; patients 1 and 2). The germline mutation in patient 2 is a…”
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Intron-exon organization of the active human protein S gene PSα and its pseudogene PSβ : duplication and silencing during primate evolution by PLOOS VAN AMSTEL, H. K, REITSMA, P. H, VAN DER LOGT, C. P. E, BERTINA, R. M

“…The human protein S locus on chromosome 3 consists of two protein S genes, PS alpha and PS beta. Here we report the cloning and characterization of both genes…”
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Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1 by Mustonen, Aki, Ploos Van Amstel, Hans Kristian, Berger, Ruud, Salo, Matti K., Viinikka, Lasse, Simola, Kalle O. J.

“…Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of…”
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Heterogeneity among patients with tumor necrosis factor receptor–associated periodic syndrome phenotypes by Aganna, Ebun, Hammond, Linda, Hawkins, Philip N., Aldea, Anna, McKee, Shane A., van Amstel, Hans Kristian Ploos, Mischung, Claudia, Kusuhara, Koichi, Saulsbury, Frank T., Lachmann, Helen J., Bybee, Alison, McDermott, Elizabeth M., La Regina, Micaela, Arostegui, Juan I., Campistol, Josep M., Worthington, Sharron, High, Kevin P., Molloy, Michael G., Baker, Nicholas, Bidwell, Jeff L., Castañer, José L., Whiteford, Margo L., Janssens‐Korpola, P. L., Manna, Raffaele, Powell, Richard J., Woo, Patricia, Solis, Pilar, Minden, Kirsten, Frenkel, Joost, Yagüe, Jordi, Mirakian, Rita M., Hitman, Graham A., McDermott, Michael F.

“…Objective To investigate the prevalence of tumor necrosis factor receptor–associated periodic syndrome (TRAPS) among outpatients presenting with recurrent…”
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Metachromatic leukodystrophy : a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant by LUYTEN, J. A. F. M, WENINK, P. W, STEENBERGEN-SPANJERS, G. C. H, WEVERS, R. A, PLOOS VAN AMSTEL, H. K, DE JONG, J. G. N, VAN DEN HEUVEL, L. P. W. J

“…Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This…”
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Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine‐rich repeat domain of CIAS1 by Frenkel, Joost, Van Kempen, Marjan J. A., Kuis, Wietse, Van Amstel, Hans Kristian Ploos

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The human protein S locus: identification of the PS alpha gene as a site of liver protein S messenger RNA synthesis by Ploos van Amstel, H K, Reitsma, P H, Bertina, R M

“…The protein S locus, situated on chromosome 3, consists of two protein S genes. Here, we report the cloning and complete nucleotide sequence of the…”
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Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families by Sinke, R J, Ippel, E F, Diepstraten, C M, Beemer, F A, Wokke, J H, van Hilten, B J, Knoers, N V, van Amstel, H K, Kremer, H P

“…Autosomal dominant cerebellar ataxias (ADCAs), or spinocerebellar ataxias (SCAs), are a heterogeneous group of neurodegenerative disorders. Mild CAG repeat…”
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