Search Results - "VAN ZUTVEN, Laura J. C. M"

What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping? by van Zutven, Laura J. C. M, Mijalkovic, Jona, van Veghel-Plandsoen, Monique, Goense, Margaret, Polak, Marike, Knapen, Maarten F. C. M, de Weerd, Sabina, Joosten, Marieke, Diderich, Karin E. M, Hoefsloot, Lies H, Van Opstal, Diane, Srebniak, Malgorzata I

“…Background Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to…”
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Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication? by Srebniak, Malgorzata I, van Zutven, Laura J C M, Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P J, Knapen, Maarten F C M, Cornette, Jerome M J, Kremer, Andreas, Van Opstal, Diane, Diderich, Karin E M

“…Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short…”
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N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region by Williams, Monique, Burlina, Alberto, Rubert, Laura, Polo, Giulia, Ruijter, George J. G., van den Born, Myrthe, Rüfenacht, Véronique, Haskins, Nantaporn, van Zutven, Laura J. C. M., Tuchman, Mendel, Saris, Jasper J., Häberle, Johannes, Caldovic, Ljubica

“…N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that results from absent or decreased…”
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Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature by Rosenberg, Anna G W, Wellink, Charlotte M, Tellez Garcia, Juan M, Pellikaan, Karlijn, Van Abswoude, Denise H, Davidse, Kirsten, Van Zutven, Laura J C M, Brüggenwirth, Hennie T, Resnick, James L, Van der Lely, Aart J, De Graaff, Laura C G

“…Prader−Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The…”
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The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature by Pellikaan, Karlijn, van Woerden, Geeske M., Kleinendorst, Lotte, Rosenberg, Anna G. W., Horsthemke, Bernhard, Grosser, Christian, van Zutven, Laura J. C. M., van Rossum, Elisabeth F. C., van der Lely, Aart J., Resnick, James L., Brüggenwirth, Hennie T., van Haelst, Mieke M., de Graaff, Laura C. G.

“…Prader–Willi syndrome (PWS) is a rare genetic condition characterized by hypotonia, intellectual disability, and hypothalamic dysfunction, causing pituitary…”
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Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability by van Zutven, Laura J. C. M., Mancini, Grazia M. S., Bindels‐de Heus, Karen G. C. B., van den Akker, Erica L. T., Hulsman, Lorette O. M., Smit, Marjan, Berna Beverloo, H.

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Phenotypic variability of atypical 22q11.2 deletions not including TBX1 by Verhagen, Judith M.A., Diderich, Karin E.M., Oudesluijs, Grétel, Mancini, Grazia M.S., Eggink, Alex J., Verkleij-Hagoort, Anna C., Groenenberg, Irene A.L., Willems, Patrick J., du Plessis, Frederik A., de Man, Stella A., Srebniak, Malgorzata I., van Opstal, Diane, Hulsman, Lorette O.M., van Zutven, Laura J.C.M., Wessels, Marja W.

“…Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate…”
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A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family by KNIJNENBURG, Jeroen, VAN BEVER, Yolande, HULSMAN, Lorette O. M, VAN KEMPEN, Chantal A. P, BOLMAN, Galhana M, VAN LOON, Rosa Laura, BERNA BEVERLOO, H, VAN ZUTVEN, Laura J. C. M

“…Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra…”
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Social and medical need for whole genome high resolution NIPT by Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane

“…Background Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray…”
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Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene by van Zutven, Laura J. C. M., Önen, Emine, Velthuizen, Sandra C. J. M., van Drunen, Ellen, von Bergh, Anne R. M., van den Heuvel-Eibrink, Marry M., Veronese, Angelo, Mecucci, Cristina, Negrini, Massimo, de Greef, Georgine E., Beverloo, H. Berna

“…Chromosome rearrangements are found in many acute leukemias. As a result, genes at the breakpoints can be disrupted, forming fusion genes. One of the genes…”
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Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study by Groot‐van der Mooren, Maurike, Graaf, Gert, Weijerman, Michel E, Hoffer, Mariette J. V, Knijnenburg, Jeroen, Kevie‐Kersemaekers, Anne‐Marie M. F, Kooper, Angelique J. A, Voorhoeve, Els, Sikkema‐Raddatz, Birgit, Zutven, Laura J. C. M, Srebniak, Malgorzata Ilona, Huijsdens‐van Amsterdam, Karin, Engelen, John J. M, Smeets, Dominique, Kaam, Anton H, Cornel, Martina C

“…Objective To evaluate if non‐invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands. Method Data from…”
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Multiple tumors due to mosaic genome‐wide paternal uniparental disomy by Postema, Floor A.M., Bliek, Jet, Noesel, Carel J.M., Zutven, Laura J.C.M., Oosterwijk, Jan C., Hopman, Saskia M. J., Merks, Johannes H. M., Hennekam, Raoul C.

“…Mosaic genome‐wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble…”
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Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity by Knijnenburg, Jeroen, Uytdewilligen, Madiek E.W, van Hassel, Daniella A.C.M, Oostenbrink, Rianne, Eussen, Bert H.J, de Klein, Annelies, Brooks, Alice S, van Zutven, Laura J.C.M

“…Abstract Using SNP array and FISH analysis, a patient with moderate intellectual disability and obesity was found to harbour an atypical 1.6 Mb inverted…”
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High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9 by von Bergh, Anne R. M., van Drunen, Ellen, van Wering, Elisabeth R., van Zutven, Laura J. C. M., Hainmann, Ina, Lönnerholm, Gudmar, Meijerink, Jules P., Pieters, Rob, Beverloo, H. Berna

“…The t(7;12)(q36;p13) is a recurrent translocation involving the ETV6/TEL gene (12p13) and a heterogeneous breakpoint at 7q36. A fusion transcript between HLXB9…”
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Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion by Verhoeven, Willem M.A, Egger, Jos I.M, Goffin, Luc, van Zutven, Laura J.C.M, Mancini, Grazia M.S

“…Abstract A female patient, 20 years of age, is reported with a history characterized by developmental and psychomotor delay, and during grammar-school period…”
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Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p by Oegema, Renske, van Zutven, Laura J.C.M, van Hassel, Daniella A.C.M, Huijbregts, Guido C.M, Hoogeboom, A. Jeannette M

“…Abstract In 1980, a case report on a boy with cleft palate, club feet, dysmorphic features, and developmental delay was published by Bijlsma as a possible…”
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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review by Van Zutven, Laura J.C.M., van Bever, Yolande, Van Nieuwland, Carolien C.M., Huijbregts, Gido C.M., Van Opstal, Diane, von Bergh, Anne R.M., Corel, Linda J.A., Tibboel, Dick, Wouters, Cokkie H., Poddighe, Pino J.

“…We present a family with multiple cytogenetic abnormalities, identified through a girl with several dysmorphic features and cardiac problems, suspected for…”
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Two dual-color split signal fluorescence in situ hybridization assays to detect t(5;14) involving HOX11L2 or CSX in T-cell acute lymphoblastic leukemia by van Zutven, LJ, Velthuizen, SC, Wolvers-Tettero, IL, van Dongen, JJ, Poulsen, TS, MacLeod, RA, Beverloo, HB, Langerak, AW

“…Department of Genetics, Erasmus MC, Rotterdam, The Netherlands. BACKGROUND AND OBJECTIVES: The t(5;14)(q35;q32) is a novel cryptic translocation in pediatric…”
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Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping by de Vree, Paula J P, de Wit, Elzo, Yilmaz, Mehmet, van de Heijning, Monique, Klous, Petra, Verstegen, Marjon J A M, Wan, Yi, Teunissen, Hans, Krijger, Peter H L, Geeven, Geert, Eijk, Paul P, Sie, Daoud, Ylstra, Bauke, Hulsman, Lorette O M, van Dooren, Marieke F, van Zutven, Laura J C M, van den Ouweland, Ans, Verbeek, Sjef, van Dijk, Ko Willems, Cornelissen, Marion, Das, Atze T, Berkhout, Ben, Sikkema-Raddatz, Birgit, van den Berg, Eva, van der Vlies, Pieter, Weening, Desiree, den Dunnen, Johan T, Matusiak, Magdalena, Lamkanfi, Mohamed, Ligtenberg, Marjolijn J L, ter Brugge, Petra, Jonkers, Jos, Foekens, John A, Martens, John W, van der Luijt, Rob, van Amstel, Hans Kristian Ploos, van Min, Max, Splinter, Erik, de Laat, Wouter

“…Chromatin crosslinking facilitates the detection in selected genomic regions of structural variants missed by existing approaches Despite developments in…”
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A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study by Den Boer, Monique L, Dr, van Slegtenhorst, Marjon, PhD, De Menezes, Renée X, PhD, Cheok, Meyling H, PhD, Buijs-Gladdines, Jessica GCAM, BSc, Peters, Susan TCJM, BSc, Van Zutven, Laura JCM, PhD, Beverloo, H Berna, PhD, Van der Spek, Peter J, Prof, Escherich, Gaby, PhD, Horstmann, Martin A, Prof, Janka-Schaub, Gritta E, Prof, Kamps, Willem A, Prof, Evans, William E, Prof, Pieters, Rob, Prof

“…Summary Background Genetic subtypes of acute lymphoblastic leukaemia (ALL) are used to determine risk and treatment in children. 25% of precursor B-ALL cases…”
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