Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study von 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

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

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SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations von 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

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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions von 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.

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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes von Paulussen, Aimée DC, 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

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Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly von 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

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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 von 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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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... von 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.

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A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL von 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

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

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XX male with sex reversal and a de novo 11;22 translocation von 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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A simple and efficient method for microdissection and microFISH von Engelen, J J, Albrechts, J C, Hamers, G J, Geraedts, J P

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A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome von Meljer, Henk, de Graaff, Esther, Merckx, Diane M.L., Jongbloed, Roselle J.E., de Die-Smulders, Christine E.M., Engelen, John J.M., Fryns, Jean-Pierre, Curfs, Paul M.G., Oostra, Ben A.

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Chromosome bands and ends revisited von Moog, Ute, Engelen, John J.M., Schrander-Stumpel, Connie T.R.M., Fryns, Jean-Pierre

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Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma von Moog, Ute, Engelen, John J M, van Schrojenstein Lantman-de Valk, Henny M J, Driessen, Sandra D, Fryns, Jean-Pierre

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Serum Type III Procollagen N-Terminal Peptide in Coal Miners von Janssen, Yvonne M. W., Engelen, John J. M., Giancola, Michael S., Low, Robert B., Vacek, Pamela, Borm, Paul J. A.

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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... von 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.

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Severe phenotypes associated with inactive ring X chromosomes von Migeon, Barbara R., Ausems, Margareet, Giltay, Jacques, Hasley-Royster, Camille, Kazi, Ethan, Lydon, Thomas J., Engelen, John J.M., Raymond, Gerald V.

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11Q duplication in a patient with Pitt-Rogers-Danks phenotype von de Die-Smulders, Christine E.M., Engelen, John J.M.

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Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: Value of FISH over high resolution banding von de Die-Smulders, Christine E.M., Engelen, John J.M., Albrechts, Josefa C.M., Hamers, Guus J.H.

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