Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype von Filges, I., Nosova, E., Bruder, E., Tercanli, S., Townsend, K., Gibson, W.T., Röthlisberger, B., Heinimann, K., Hall, J.G., Gregory-Evans, C.Y., Wasserman, W.W., Miny, P., Friedman, J.M.

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Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene von Jenewein, T., Beckmann, B.M., Rose, S., Osterhues, H.H., Schmidt, U., Wolpert, C., Miny, P., Marschall, C., Alders, M., Bezzina, C.R., Wilde, A.A.M., Kääb, S., Kauferstein, S.

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Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism von Filges, I, Röthlisberger, B, Blattner, A, Boesch, N, Demougin, P, Wenzel, F, Huber, AR, Heinimann, K, Weber, P, Miny, P

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Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome von Plasilova, M, Chattopadhyay, C, Pal, P, Schaub, N A, Buechner, S A, Mueller, Hj, Miny, P, Ghosh, A, Heinimann, K

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International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used von Evans, M.I., Henry, G.P., Miller, W.A., Bui, T.H., Snidjers, R.J., Wapner, R.J., Miny, P., Johnson, M.P., Peakman, D., Johnson, A., Nicolaides, K., Holzgreve, W., Ebrahim, S.A.D., Babu, R., Jackson, L.

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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome von Filges, Isabel, Shimojima, Keiko, Okamoto, Nobuhiko, Röthlisberger, Benno, Weber, Peter, Huber, Andreas R, Nishizawa, Tsutomu, Datta, Alexandre N, Miny, Peter, Yamamoto, Toshiyuki

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Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications von Kotzot, Dieter, Martinez, Maria-Jose, Bagci, Gulseren, Basaran, Seher, Baumer, Alessandra, Binkert, Franz, Brecevic, Lucrecja, Castellan, Claudio, Chrzanowska, Krystyna, Dutly, Fabrizio, Gutkowska, Anna, Karaüzüm, Sibel Berker, Krajewska-Walasek, Malgorzata, Luleci, Guven, Miny, Peter, Riegel, Mariluce, Schuffenhauer, Simone, Seidel, Heide, Schinzel, Albert

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Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053 K mutation and a deletion in the SCN5A gene von Jenewein, T, Beckmann, B.M, Rose, S, Osterhues, H.H, Schmidt, U, Wolpert, C, Miny, P, Marschall, C, Alders, M, Bezzina, C.R, Wilde, A.A.M, Kääb, S, Kauferstein, S

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Myomectomy during the first trimester associated with fetal limb anomalies and hydrocephalus in a twin pregnancy von Danzer, E., Holzgreve, W., Batukan, C., Miny, P., Tercanli, S., Hoesli, I.

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Fanconi anemia associated with increased nuchal translucency detected by first‐trimester ultrasound von Tercanli, S., Miny, P., Siebert, M. S., Hösli, I., Surbek, D. V., Holzgreve, W.

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First successful pregnancy in Switzerland after prospective sex determination of the embryo through the separation of X-chromosome bearing spermatozoa von De Geyter, Christian, Sterthaus, Oliver, Miny, Peter, Wenzel, Friedel, Lapaire, Olav, De Geyter, Maria, Sartorius, Gideon

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Rapport d'un voyage au Mayumbe von Miny, P

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Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism von Langlois, Sylvie, Yong, Paul J., Yong, Siu Li, Barrett, Irene, Kalousek, Dagmar K., Miny, Peter, Exeler, Rita, Morris, Kathy, Robinson, Wendy P.

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Fetal cells in maternal circulation throughout gestation von Gänshirt, D., Garritsen, H., Miny, P., Holzgreve, W.

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Prenatal diagnosis and management of fetal hydrocephaly and lissencephaly von HOLZGREVE, W, FEIL, R, LOUWEN, F, MINY, P

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The long-term effect of external quality assessment on performance in service cytogenetics von Held, K.R., Eiben, B., Miny, P.

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A novel syndrome involving primary skeletal growth and retardation in siblings von Hadziselimovic, F, Fliegel, C H, Miny, P

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Characterization of an immortalized human granulosa cell line (COV434) von Zhang, Hong, Vollmer, Marielle, De Geyter, Maria, Litzistorf, Yvonne, Ladewig, Ariane, Dürrenberger, Markus, Guggenheim, Richard, Miny, Peter, Holzgreve, Wolfgang, De Geyter, Christian

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Uniparental disomy with normal phenotype von Dwokniczak, B., Koppers, B., Kurlemann, G., Holzgreve, W., Horst, J., Miny, P.

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Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies von Miny, P., Hammer, P., Gerlach, B., Tercanli, S., Horst, J., Holzgreve, W., Eiben, B.

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