Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries von Meier, Nicole, Bruder, Elisabeth, Lapaire, Olav, Hoesli, Irene, Kang, Anjeung, Hench, Jürgen, Hoeller, Sylvia, De Geyter, Julie, Miny, Peter, Heinimann, Karl, Chaoui, Rabih, Tercanli, Sevgi, Filges, Isabel

Volltext

Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly von Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, Filges, Isabel

Volltext

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis von Filges, Isabel, M.D, Kunz, Christophe, Ph.D, Miny, Peter, M.D, Boesch, Nemya, B.Sc, Szinnai, Gabor, M.D., Ph.D, Wenzel, Friedel, M.Sc, Tschudin, Sibil, M.D, Zumsteg, Urs, M.D, Heinimann, Karl, M.D., Ph.D

Volltext

Morphologic and GATA1 sequencing analysis of hematopoiesis in fetuses with trisomy 21 von Hoeller, Sylvia, MD, Bihl, Michel P., PhD, Tzankov, Alexandar, MD, Chaffard, Rosemarie, Hirschmann, Petra, Miny, Peter, MD, Kühne, Thomas, MD, Bruder, Elisabeth, MD

Volltext

APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE von Toksoy, Güven, Karaman, Birsen, Uyguner, Zehra Oya, Yılmaz, Kader, Has, Recep, Kayserili, Hülya, Miny, Peter, Başaran, Seher

Volltext

Microarray-based maps of copy-number variant regions in European and sub-Saharan populations von Vogler, Christian, Gschwind, Leo, Röthlisberger, Benno, Huber, Andreas, Filges, Isabel, Miny, Peter, Auschra, Bianca, Stetak, Attila, Demougin, Philippe, Vukojevic, Vanja, Kolassa, Iris-Tatjana, Elbert, Thomas, de Quervain, Dominique J-F, Papassotiropoulos, Andreas

Volltext

Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16 von Toksoy,Güven, Röthlisberger,Benno, Türköver,Bilge, Sayar,Ceyhan, Huber,Andreas R, Miny,Peter

Volltext

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

Volltext

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies von Filges, Isabel, Kang, Anjeung, Klug, Vanessa, Wenzel, Friedel, Heinimann, Karl, Tercanli, Sevgi, Miny, Peter

Volltext

Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome? von Dettmer, Matthias, Itin, Peter, Miny, Peter, Gandhi, Manoj, Cathomas, Gieri, Willi, Niels

Volltext

Parental origin and mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)/45,X karyotype in a woman with mild Turner syndrome von Binkert, Franz, Ph.D, Spreiz, Ana, Mag, Höckner, Martina, Ph.D, Miny, Peter, M.D, von Dach Leu, Brigitte, M.D, Erdel, Martin, Ph.D, Zschocke, Johannes, M.D., Ph.D, Utermann, Gerd, M.D, Kotzot, Dieter, M.D

Volltext

Genetic communication between fetus and mother: short- and long-term consequences von Holzgreve, Wolfgang, MD, Hahn, Sinuhe, PhD, Zhong, Xiao Yan, MD, Lapaire, Olav, MD, Hösli, Irene, MD, Tercanli, Sevgi, MD, Miny, Peter, MD, Diesch, Claude, MD

Volltext

Duplication Dup(1)(q32q44) Detected by Comparative Genomic Hybridization (CGH): Further Delineation of Trisomies 1q von Bartsch, Christine, Aslan, Mücevher, Köhler, Jutta, Miny, Peter, Horst, Jürgen, Holzgreve, Wolfgang, Rehder, Helga, Fritz, Barbara

Volltext

Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood von Gänshirt-Ahlert, Dorothee, Burschyk, Monika, Garritsen, Henk S.P., Helmer, Lisa, Miny, Peter, Horst, Jürgen, Schneider, Hermann P.G., Holzgreve, Wolfgang

Volltext

Author's reply to Toutain's correspondence von Filges, Isabel, Miny, Peter

Volltext

mRNA transfection-based, feeder-free, induced pluripotent stem cells derived from adipose tissue of a 50-year-old patient von Heng, Boon Chin, Heinimann, Karl, Miny, Peter, Iezzi, Giandomenica, Glatz, Katharina, Scherberich, Arnaud, Zulewski, Henryk, Fussenegger, Martin

Volltext

Genetic testing in the fetus and child von Bartholdi, Deborah, Miny, Peter

Volltext

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies von Basaran, Seher, Has, Recep, Kalelioglu, Ibrahim Halil, Sarac Sivrikoz, Tugba, Karaman, Birsen, Kirgiz, Melike, Dehgan, Tahir, Kalayci, Tugba, Ozsait Selcuk, Bilge, Miny, Peter, Yuksel, Atil

Volltext

The mutation spectrum in RECQL4 diseases von SIITONEN, H. Annika, SOTKASIIRA, Jenni, KEYMOLEN, Kathelijn, LIPSANEN-NYMAN, Marita, MINY, Peter, PLON, Sharon E, RIEDL, Stefan, SARKAR, Ajoy, VARGAS, Fernando R, VERLOES, Alain, WANG, Lisa L, KÄÄRIÄINEN, Helena, BIERVLIET, Martine, KESTILÄ, Marjo, BENMANSOUR, Abdelmadjid, CAPRI, Yline, CORMIER-DAIRE, Valerie, CRANDALL, Barbara, HANNULA-JOUPPI, Katariina, HENNEKAM, Raoul, HERZOG, Denise

Volltext

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF von Filges, Isabel, Bruder, Elisabeth, Brandal, Kristin, Meier, Stephanie, Undlien, Dag Erik, Waage, Trine Rygvold, Hoesli, Irene, Schubach, Max, de Beer, Tjaart, Sheng, Ying, Hoeller, Sylvia, Schulzke, Sven, Røsby, Oddveig, Miny, Peter, Tercanli, Sevgi, Oppedal, Truls, Meyer, Peter, Selmer, Kaja Kristine, Strømme, Petter

Volltext