Search Results - "Bliek, J"

Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics by Mannens, M. M. A. M., Lombardi, M. P., Alders, M., Henneman, P., Bliek, J.

“…Methylation tests have been used for decades in regular DNA diagnostics focusing primarily on Imprinting disorders or specific loci annotated to specific…”
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Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics by Krzyzewska, I M, Alders, M, Maas, S M, Bliek, J, Venema, A, Henneman, P, Rezwan, F I, Lip, K V D, Mul, A N, Mackay, D J G, Mannens, M M A M

“…Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is…”
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Clinical utility of methicillin-resistant Staphylococcus aureus nasal polymerase chain reaction (PCR) assays beyond respiratory infections by Noeldner, Haley M, Bliek, Zachary J, Jones, Nephi E, Prusa, Ryan D, Wilkinson, Melissa S, Bushman, Amanda M, Rosa, Rossana

“…We estimated the predictive value of methicillin-resistant (MRSA) nasal polymerase chain reaction (PCR) for blood, bone, and soft-tissue cultures. The…”
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Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation : Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS by BLIEK, Jet, MAAS, Saskia M, RUIJTER, Jan M, HENNEKAM, Raoul C. M, ALDERS, Marielle, WESTERVELD, Andries, MANNENS, Marcel M. A. M

“…Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that maps to human chromosome 11p15.5, a region that harbours a number of imprinted…”
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Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation by Scott, R H, Douglas, J, Baskcomb, L, Nygren, A O, Birch, J M, Cole, T R, Cormier-Daire, V, Eastwood, D M, Garcia-Minaur, S, Lupunzina, P, Tatton-Brown, K, Bliek, J, Maher, E R, Rahman, N

“…A variety of abnormalities have been demonstrated at chromosome 11p15 in individuals with overgrowth and growth retardation. The identification of these…”
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Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS) by Bliek, Jet, Gicquel, Christine, Maas, Saskia, Gaston, Véronique, le Bouc, Yves, Mannens, Marcel

“…Patients with Beckwith-Wiedemann syndrome (BWS) have a risk of 7.5% to 10% of developing childhood tumors, 60% of which are Wilms' tumors. Aberrant methylation…”
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Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions by Bliek, J, Snijder, S, Maas, S.M, Polstra, A, van der Lip, K, Alders, M, Knegt, A.C, Mannens, M.M.A.M

“…Abstract We report on two families in which the parental origin of duplications of the BWS imprinted regions on chromosome 11p15 influences the phenotype. In…”
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Epigenotype-phenotype correlations in Silver-Russell syndrome by Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M

“…Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry…”
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Peptide fingerprinting of folate-responsive proteins in human B lymphoblasts and orofacial clefting by Bliek, Bart J. B., Guzel, Coskun, de Klein, Annelies, Stingl, Christoph, Luider, Theo M., Lindemans, Jan, Steegers, Eric A. P., Steegers-Theunissen, Régine P. M.

“…Eur J Clin Invest 2012; 42 (7): 738–750 Background  Maternal periconceptional use of folic acid contributes to the prevention of neural crest–related…”
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Maternal folate receptor autoantibodies and cleft lip and/or palate by Bliek, J.B., Rothenberg, S.P., Steegers-Theunissen, R.P.M.

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Comparable levels of folate-induced aneusomy in B-lymphoblasts from oral-cleft patients and controls by Bliek, Bart J.B., Steegers-Theunissen, Régine P.M., Douben, Hannie, Lindemans, Jan, Steegers, Eric A.P., de Klein, Annelies

“…Peri-conceptional use of folic acid contributes to protection against congenital malformations, such as neural tube defects and cleft lip with or without cleft…”
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Disruption of a Novel Imprinted Zinc-Finger Gene, ZNF215, in Beckwith-Wiedemann Syndrome by Alders, M., Ryan, A., Hodges, M., Bliek, J., Feinberg, A.P., Privitera, O., Westerveld, A., Little, P.F.R., Mannens, M.

“…The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve multiple genes. It is known that three regions on chromosome 11p15 (…”
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Heel Complications by Barp, Eric A., Reese, Eric R., Jones, Nephi E.H., Bliek, Zachary J.

“…Postoperative complications can be burdensome on both the patient and the surgeon. Attention in literature is often directed toward different forms of…”
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Multiple Genetic Loci within 11p15 Defined by Beckwith-Wiedemann Syndrome Rearrangement Breakpoints and Subchromosomal Transferable Fragments by Hoovers, J M, Kalikin, L M, Johnson, L A, Alders, M, Redeker, B, Law, D J, Bliek, J, Steenman, M, Benedict, M, Wiegant, J, Lengauer, C, Taillon-Miller, P, Schlessinger, D, Edwards, M C, Elledge, S J, Ivens, A, Westerveld, A, Little, P, Mannens, M, Feinberg, A P

“…Beckwith-Wiedemann syndrome (BWS) involves fetal overgrowth and predisposition to a wide variety of embryonal tumors of childhood. We have previously found…”
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New approach for the identification of folate-related pathways in human embryogenesis by Bliek, J B, de Klein, A, Luider, Th M, Lindemans, J, Hulsman, L, Guzel, C, de Groot, C J M, Steegers-Theunissen, R P M

“…The role of natural folate intake and synthetic folic acid supplementation in the prevention of some congenital malformations is known, but on a molecular…”
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High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered by Hoovers, J M, Mannens, M, John, R, Bliek, J, van Heyningen, V, Porteous, D J, Leschot, N J, Westerveld, A, Little, P F

“…In this study, we describe the identification and partial characterization of 101 potential human zinc finger protein genes (ZnFPs). These sequences were…”
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Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia by Mannens, M, Hoovers, J M, Redeker, E, Verjaal, M, Feinberg, A P, Little, P, Boavida, M, Coad, N, Steenman, M, Bliek, J

“…Cytogenetic and DNA analyses of patients with the Beckwith-Wiedemann syndrome (BWS) enabled us to refine the localization of the syndrome at 11p15.3-pter to…”
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Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours by MANNENS, M, SLATER, R. M, HEYTING, C, BLIEK, J, DE KRAKER, J, COAD, N, DE PAGTER-HOLTHUIZEN, P, PEARSON, P. L

“…In this paper we describe the analysis of genetic changes in chromosome 11 in Wilms' tumours. Using a range of probes for regions 11p15, 11p13 and 11q we have…”
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Maternal medication use, carriership of the ABCB1 3435C > T polymorphism and the risk of a child with cleft lip with or without cleft palate by Bliek, Bart J.B., van Schaik, Ron H.N., van der Heiden, Ilse P., Sayed-Tabatabaei, Fakhredin A., van Duijn, Cock M., Steegers, Eric A.P., Steegers-Theunissen, Régine P.M.

“…Gene–environment interactions in the periconceptional period play an increasing role in the pathogenesis of birth defects, including cleft lip and/or cleft…”
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Genome-wide pathway analysis of folate-responsive genes to unravel the pathogenesis of orofacial clefting in man by Bliek, Bart J. B., Steegers-Theunissen, Régine P. M., Blok, Leen J., Santegoets, Lindy A. M., Lindemans, Jan, Oostra, Ben A., Steegers, Eric A. P., de Klein, Annelies

“…BACKGROUND: A cleft of the lip with or without the palate (CLP) is a frequent congenital malformation with a heterogeneous etiology, for which folic acid…”
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