Search Results - "ENGELEN, JOHN"

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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Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres by Hasson, Dan, Alonso, Alicia, Cheung, Fanny, Tepperberg, James H, Papenhausen, Peter R, Engelen, John J. M, Warburton, Peter E

“…Endogenous human centromeres form on megabase-sized arrays of tandemly repeated alpha satellite DNA. Human neocentromeres form epigenetically at ectopic sites…”
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SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations by VAN UUM, Chris M. J, STEVENS, Servi J. C, DREESEN, Joseph C. F. M, DRÜSEDAU, Marion, SMEETS, Hubert J, HOLLANDERS-CROMBACH, Bertien, DE DIE-SMULDERS, Christine E. M, GERAEDTS, Joep Pm, ENGELEN, John J. M, COONEN, Edith

“…Preimplantation genetic diagnosis (PGD) for chromosomal rearrangements (CR) is mainly based on fluorescence in situ hybridisation (FISH). Application of this…”
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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions by Stevens, Servi J.C., van Ravenswaaij-Arts, Conny M.A., Janssen, Jannie W.H., Klein Wassink-Ruiter, Jolien S., van Essen, Anthonie J., Dijkhuizen, Trijnie, van Rheenen, Jeroen, Heuts-Vijgen, Regina, Stegmann, Alexander P.A., Smeets, Eric E.J.G.L., Engelen, John J.M.

“…A partial deletion of chromosome band 2p25.3 (2pter) is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Using…”
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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes by Paulussen, Aimée D C, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon, Marleen E H, van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, van Essen, Anthonie J, Lichtenbelt, Klaske D, van Haeringen, Arie, Kwee, Mei L, Lachmeijer, Augusta M A, Tan-Sindhunata, Gita M B, van Maarle, Merel C, Arens, Yvonne H J M, Smeets, Eric E J G L, de Die-Smulders, Christine E, Engelen, John J M, Smeets, Hubertus J, Herbergs, Jos

“…Holoprosencephaly is a severe malformation of the brain characterized by abnormal formation and separation of the developing central nervous system. The…”
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Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly by Sinnema, Margje, van Roozendaal, Kees E P, Maaskant, Marian A, Smeets, Hubert J M, Engelen, John J M, Jonker-Houben, Nieke, Schrander-Stumpel, Constance T R M, Curfs, Leopold M G

“…The Prader-Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region…”
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Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome by Stevens, Servi J.C., Smeets, Eric E.J.G.L., van den Broek, Naomi, Droog, Richard P., Breukels, Mijke A., Albrechts, Jozefa C.M., Delst, Marion Rauh-van, Traa, Erik, Lennarts, Melanie, Janssen, Jannie W.H., Engelen, John J.M.

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Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency by GÜMÜŞ, HAKAN, GHESQUIERE, STIJN, PER, HÜSEYIN, KONDOLOT, MEDA, ICHIDA, KIMIYOSHI, POYRAZOĞLU, GAMZE, KUMANDAŞ, SEFER, ENGELEN, JOHN, DUNDAR, MUNIS, ÇAĞLAYAN, AHMET OKAY

“…Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase,…”
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Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: Detection by MLPA and breakpoint mapping by SNP array analysis by Stevens, Servi J.C., Smeets, Eric E.J.G.L., Blom, Eveline, van Uum, Chris M.J., Albrechts, Jozefa C.M., Herbergs, Jos, Janssen, Jannie W.M., Engelen, John J.M.

“…Genotypic and phenotypic data are presented on three adult siblings with mild to moderate mental retardation and mild dysmorphic features. All three siblings…”
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XX male with sex reversal and a de novo 11;22 translocation by Macville, Merryn V.E., Loneus, Wim H., Marcus-Soekarman, Dominique, Huys, Erik H.L.P.G., Schoenmakers, Eric F.P.M., Schrank-Hacker, April, Emanuel, Beverly S., Engelen, John J.M.

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Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients by Engelen, John J.M., Loneus, Wim H., Vaes-Peeters, Gerrie, Schrander-Stumpel, Constance T.R.M.

“…Kabuki syndrome is charcterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip…”
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Toward positional cloning of the curly tail gene by Brouns, Madeleine R., Peeters, Marian C.E., Geurts, Jan M., Merckx, Diane M., Engelen, John J., Hekking, Johan W.M., Terwindt-Rouwenhorst, Els A.W., Oosterbaan, Mariet E.A.C., Geraedts, Joep P.M., van Straaten, Henny W.

“…BACKGROUND The curly tail (ct) mutant mouse is one of the best‐studied mouse models of spina bifida. The ct mutation has been localized to distal chromosome 4…”
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Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands by Hochstenbach, Ron, van Binsbergen, Ellen, Engelen, John, Nieuwint, Aggie, Polstra, Abeltje, Poddighe, Pino, Ruivenkamp, Claudia, Sikkema-Raddatz, Birgit, Smeets, Dominique, Poot, Martin

“…Abstract Anomalies of chromosome number and structure are considered to be the most frequent cause of unexplained, non-syndromic developmental delay and mental…”
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Chromosome bands and ends revisited by Moog, Ute, Engelen, John J.M., Schrander-Stumpel, Connie T.R.M., Fryns, Jean-Pierre

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Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014 by Heijligers, Malou, van Montfoort, Aafke, Meijer-Hoogeveen, Madelon, Broekmans, Frank, Bouman, Katelijne, Homminga, Irene, Dreesen, Jos, Paulussen, Aimee, Engelen, John, Coonen, Edith, van der Schoot, Vyne, van Deursen-Luijten, Marieke, Muntjewerff, Nienke, Peeters, Andrea, van Golde, Ron, van der Hoeven, Mark, Arens, Yvonne, de Die-Smulders, Christine

“…Purpose We aim to evaluate the safety of PGD. We focus on the congenital malformation rate and additionally report on adverse perinatal outcome. Methods We…”
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A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL by Stevens, Servi J.C, Meers, Laurence E.C, Albrechts, Jozefa C.M, Mebis-Verhees, Karien, Bos, Gerard M.J, Engelen, John J.M, Janssen, Jannie W.H

“…Abstract A 55-year-old man sought care for aggressive acute lymphoblastic leukemia (ALL), which developed 8 years after he had received chemotherapeutic…”
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Agilent Technologies OnePGT solution: External verification on both blastomere and trophectoderm biopsies by Esteki, Masoud. Zamani, Melotte, Cindy, Coonen, Edith, Dreesen, Joseph, Paulussen, Aimee, Dumoulin, John, Van Uum, Christian, Drusedau, Marion, Engelen, John, Derks, Kasper, Van Golde, R., Dimitriadou, Eftychia, Masset, Heleen, François, Katrien O., Allemeersch, Joke, Richards, Rebecca, Moeys, Sara, Theuns, Jessie, De Die-Smulders, Christine, Vermeesch, Joris R.

“…OnePGT is a genome-wide next-generation sequencing haplarithmisis-based solution designed to reinforce ranking of IVF embryos. The single workflow solution,…”
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Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma by Moog, Ute, Engelen, John J M, van Schrojenstein Lantman-de Valk, Henny M J, Driessen, Sandra D, Fryns, Jean-Pierre

“…The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was…”
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Prader-Willi-like phenotype in fragile X syndrome by Schrander-Stumpel, C, Gerver, W J, Meyer, H, Engelen, J, Mulder, H, Fryns, J P

“…A 3-year-old boy was referred to the pediatric department because of unexplained extreme obesity. Height and occipitofrontal circumference were just above the…”
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Marker chromosome identification by micro-FISH by Engelen, J J, Loots, W J, Motoh, P C, Moog, U, Hamers, G J, Geraedts, J P

“…Micro-FISH was used to elucidate the chromosomal origin of marker chromosomes in three patients. Ten copies of marker chromosomes were collected with…”
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