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A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography Giacobino, Ariane; Dahoun, Sophie; Sizonenko, Pierre-Claude; Stalberg, Anna-Maria; ... Campana, Aldo 2000
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A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes Wang, S. Y.; Cruts, M.; Del-Favero, J.; Zhang, Y.; ... van Broeckhoven, C. 1999
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A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects Spitz, François; Montavon, Thomas; Monso-Hinard, Christine; Morris, Michael Andréw; ... Duboule, Denis 2002
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A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y Chen, H.; Rossier, Colette; Morris, Michael Andréw; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation Gimelli, Stefania; Divizia, Maria Teresa; Lerone, Margherita; Bricco, Lara; ... Gimelli, Giorgio 2010
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Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping Bartoloni, Lucia; Blouin, Jean-Louis; Sainsbury, A. J.; Gos, A.; ... Antonarakis, Stylianos 1999
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Bimodal expression of PHO84 is modulated by early termination of antisense transcription Castelnuovo, Manuele; Rahman, Samir; Guffanti, Elisa; Infantino, Valentina; ... Zenklusen, Daniel 2013
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BRU1, a novel link between responses to DNA damage and epigenetic gene silencing in Arabidopsis Takeda, Shin; Tadele, Zerihun; Hofmann, Ingo; Probst, Aline V.; ... Paszkowski, Jerzy 2004
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Characterization and chromosomal localization of a human P2X receptor from the urinary bladder Valera, S.; Talabot, F.; Evans, R. J.; Gos, A.; ... Buell, G. N. 1995
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Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation Bouron-Dal Soglio, Dorothee; Rougemont-Pidoux, Anne-Laure; De Buys Roessingh, Anthony S.; Fetni, Raouf; ... Fournet, Jean-Christophe 2008
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Clonal heterogeneity and chromosomal instability at disease presentation in high hyperdiploid acute lymphoblastic leukemia Talamo, Anna; Chalandon, Yves; Marazzi, Alfio; Jotterand, Martine 2010
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010
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Developmental expression and organisation of fibrinogen genes in the zebrafish Fish, Richard; Vorjohann, Silja; Bena, Frédérique; Fort, Alexandre; Neerman Arbez, Marguerite 2012
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Epidermal growth factor receptor overexpression is common and not correlated to gene copy number in ependymoma Friedrich, Carsten; Von Bueren, André; Kolevatova, Larissa; Bernreuther, Christian; ... Glatzel, Markus 2016
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Extensive biliary intraepithelial neoplasia (BilIN) and multifocal early intrahepatic cholangiocarcinoma in non-biliary cirrhosis Rougemont-Pidoux, Anne-Laure; Genevay-Infante, Muriel; Mckee, Thomas Alexander; Gremaud, Magali; ... Rubbia-Brandt, Laura 2010
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Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 Eliez, Stéphan; Morris, Michael Andréw; Dahoun-Hadorn, S.; DeLozier-Blanchet, C. D.; ... Antonarakis, Stylianos 1997
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FISH for Y chromosome in women with primary biliary cirrhosis: lack of evidence for leukocyte microchimerism Rubbia-Brandt, Laura; Philippeaux, Marie-Marthe; Chavez, S; Mentha, Gilles; ... Hadengue, Antoine 1999
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Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 Guipponi, Michel; Yaspo, M. L.; Riesselman, L.; Chen, H.; ... Antonarakis, Stylianos 2000
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Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus Karayiorgou, M.; Gogos, J. A.; Galke, B. L.; Jeffery, J. A.; ... Pulver, A. E. 1996
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Glioblastoma with signet-ring morphology Pusztaszeri, Marc; Lobrinus, Johannes Alexander 2010
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Human splicing factor SF3a, but not SF1, is essential for pre-mRNA splicing in vivo Tanackovic Abbas-Terki, Goranka; Kraemer, Angela 2005
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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos 2001
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Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos 2007
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Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter Chen, H.; Gos, A.; Morris, Michael Andréw; Antonarakis, Stylianos 1996
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Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Chen, H.; Gos, A.; ... Antonarakis, Stylianos 1996
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Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma Valsesia, Armand; Rimoldi, Donata; Martinet, Danielle; Ibberson, Mark; ... Stevenson, Brian J 2011
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No association between DUP25 and anxiety disorders Henrichsen, C. N.; Delorme, Richard; Boucherie, Maria; Marelli, Dominique; ... Dahoun, Sophie 2004
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Persistence of recipient-type endothelium after allogeneic hematopoietic stem cell transplantation Mueller, Regula J; Stussi, Georg; Puga Yung, Gisella; Nikolic, Milica; ... Seebach, Jorg Dieter 2011
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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
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The prognostic significance of cytogenetic aberrations in childhood acute myeloid leukaemia. A study of the Swiss Paediatric Oncology Group (SPOG) Betts, David R; Ammann, Roland A; Hirt, Andreas; Hengartner, Heinz; ... Niggli, Felix K 2007
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The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification Bonnafe, E.; Touka, M.; Ait-Lounis, Aouatef; Baas, Dominique; ... Reith, Walter 2004
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Trisomy 1q generating translocations in Wilms tumor Betts, D R; Ilg, E C; Ozsahin, Ayse Hulya; von der Weid, N; Niggli, F K 1999
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre 2006
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Two means of transcriptional reactivation within heterochromatin Probst, Aline V.; Fransz, Paul F.; Paszkowski, Jerzy; Mittelsten Scheid, Ortrun 2003
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Two regulatory levels of transcriptional gene silencing in Arabidopsis Mittelsten Scheid, Ortrun; Probst, Aline V.; Afsar, Karin; Paszkowski, Jerzy 2002
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YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome Nadal, M.; Mila, M.; Pritchard, M.; Mur, A.; ... Estivill, X. 1996