Search Results - "Van Der Smagt, JJ"

Heterogeneity in the origin of recurrent complete hydatidiform moles: not all women with multiple molar pregnancies have biparental moles by Van Der Smagt, JJ, Scheenjes, E, Kremer, JAM, Hennekam, FAM, Fisher, RA

“…Hydatidiform moles of two women, each with three molar pregnancies, were examined in order to study their origin. Multiple recurrences have previously been…”
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Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia by Poot, M, van der Smagt, J J, Brilstra, E H, Bourgeron, T

“…Analyses of structural genome variation by array-CGH have dramatically enhanced our ability to detect copy number variations (CNVs). De novo CNVs and those…”
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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR by Black, Graeme C M, Ng, David, Thakker, Nalin, Corcoran, Connie M, Donnai, Dian, Perveen, Rahat, Schneider, Adele, Hadley, Donald W, Tifft, Cynthia, Zhang, Liqun, Wilkie, Andrew O M, van der Smagt, Jasper J, Gorlin, Robert J, Burgess, Shawn M, Bardwell, Vivian J, Biesecker, Leslie G

“…Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and other anomalies. Two loci…”
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Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of [alpha]B-crystallinopathies by van der Smagt, JJ, Vink, A, Kirkels, JH, Nelen, M, ter Heide, H, Molenschot, MMC, Weger, RA, Schellekens, PAW, Hoogendijk, J, Dooijes, D

“…Mutations in the [alpha]B-crystallin gene (CRYAB) have been reported in desmin-related myopathies, with or without cardiac involvement. Mutations in this gene…”
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Clinical Applications of Cell-Free Fetal DNA From Maternal Plasma by Rijnders, Robbert J. P., Christiaens, Godelieve C. M. L., Bossers, Bernadette, van der Smagt, Jasper J., van der Schoot, C Ellen, de Haas, Masja

“…OBJECTIVE:To describe our clinical experience with detection and analysis of cell-free fetal DNA derived from maternal plasma for prenatal sexing and fetal…”
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Haplotype sharing test maps genes for familial cardiomyopathies by van der Zwaag, PA, van Tintelen, JP, Gerbens, F, Jongbloed, JDH, Boven, LG, van der Smagt, JJ, van der Roest, WP, van Langen, IM, Bikker, H, Hauer, RNW, van den Berg, MP, Hofstra, RMW, te Meerman, GJ

“…van der Zwaag PA, van Tintelen JP, Gerbens F, Jongbloed JDH, Boven LG, van der Smagt JJ, van der Roest WP, van Langen IM, Bikker H, Hauer RNW, van den Berg MP,…”
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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations by So, Joyce, Suckow, Vanessa, Kijas, Zofia, Kalscheuer, Vera, Moser, Bettina, Winter, Jennifer, Baars, Marieke, Firth, Helen, Lunt, Peter, Hamel, Ben, Meinecke, Peter, Moraine, Claude, Odent, Sylvie, Schinzel, Albert, van der Smagt, J.J., Devriendt, Koen, Albrecht, Beate, Gillessen-Kaesbach, Gabriele, van der Burgt, Ineke, Petrij, Fred, Faivre, Laurence, McGaughran, Julie, McKenzie, Fiona, Opitz, John M., Cox, Timothy, Schweiger, Susann

“…Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate,…”
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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations by Petrij, Fred, Dauwerse, Hans G, Blough, Ruthann I, Giles, Rachel H, van der Smagt, Jasper J, Wallerstein, Robert, Maaswinkel-Mooy, Petra D, van Karnebeek, Clara D, van Ommen, Gert-Jan B, van Haeringen, Arie, Rubinstein, Jack H, Saal, Howard M, Hennekam, Raoul C M, Peters, Dorien J M, Breuning, Martijn H

“…Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and mental retardation. In a…”
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Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases by Hendriks, Y M C, Verhallen, J T C M, van der Smagt, J J, Kant, S G, Hilhorst, Y, Hoefsloot, L, Hansson, K B-M, van der Straaten, P J C, Boutkan, H, Breuning, M H, Vasen, H F A, Bröcker-Vriends, A H J T

“…Bannayan-Riley-Ruvalcaba syndrome (BRRS) is characterised by macrocephaly, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis,…”
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Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene by Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E., Ivarsson, S-A., Kostiner, D., Mansour, S., Norman, A., Roth, J., Stipoljev, F., Taillemite, J-L., van der Smagt, J. J., Serre, J-L., Simon-Bouy, B., Taillandier, A., Mornet, E.

“…Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline…”
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Bifurcation of the femur with tibial agenesis and additional anomalies by van de Kamp, J.M., van der Smagt, J.J., Bos, C.F.A., van Haeringen, A., Hogendoorn, P.C.W., Breuning, M.H.

“…Bifurcation of the femur and tibial agenesis are rare anomalies and have been described in both the Gollop‐Wolfgang Complex and the tibial…”
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Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only by Hes, F J, McKee, S, Taphoorn, M J B, Rehal, P, van der Luijt, R B, McMahon, R, van der Smagt, J J, Dow, D, Zewald, R A, Whittaker, J, Lips, C J M, MacDonald, F, Pearson, P L, Maher, E R

“…OBJECTIVES Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB…”
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A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) by Brooks, Alice S, Breuning, Martijn H, Osinga, Jan, Smagt, Jasper J vd, Catsman, Corine E, Buys, Charles H C M, Meijers, Carel, Hofstra, Robert M W

“…Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous,…”
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Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH by BEZROOKOVE, V, HANSSON, K, ROSENBERG, C, VAN DER BURG, M, VAN DER SMAGT, J. J, HILHORST-HOFSTEE, Y, WIEGANT, J, BEVERSTOCK, G. C, RAAP, A. K, TANKE, H, BREUNING, M. H

“…The simultaneous identification, by fluorescence in situ hybridisation (FISH), of each chromosome in a distinct colour became feasible a few years ago. The key…”
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Assessment of prenatal karyotypes by van der Smagt, J.J., Beverstock, G.C., Breuning, M.H., Kanhai, H.H.H., Vandenbussche, F.P.H.A.

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Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews by DudokdeWit, A. Christine, Tibben, Aad, Duivenvoorden, Hugo J., Niermeijer, Martinus F., Passchier, Jan, Trijsburg, R. Willem

“…In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch‐type (n = 9) familial adenomatous polyposis coli (n…”
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