未登录 A COMPREHENSIVE MAP OF THE VARIABILITY IN THE LIPOPROTEIN(A) KIV 2 REPEAT REGION AND FOLLOW-UP OF THE KIV-2 ARG20TER MUTATION IN 11,000 INDIVIDUALS Coassin, S.; Schoenherr, S.; Weissensteiner, H.; Erhart, G.; Di Maio, S.; Forer, L.; Lamina, C.; Peters, A.; Thorand, B.; Eckardt, K. U.; Koettgen, A.; Utermann, G.; Specht, G.; Kronenberg, F. 分享 收藏
A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region Coassin, Stefan; Schoenherr, Sebastian; Weissensteiner, Hansi; Erhart, Gertraud; Forer, Lukas; Losso, Jamie Lee; Lamina, Claudia; Haun, Margot; Utermann, Gerd; Paulweber, Bernhard; Specht, Guenther; Kronenberg, Florian 分享 收藏
A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction Coassin, Stefan; Erhart, Gertraud; Weissensteiner, Hansi; de Araujo, Mariana Eca Guimaraes; Lamina, Claudia; Schoenherr, Sebastian; Forer, Lukas; Haun, Margot; Losso, Jamie Lee; Koettgen, Anna; Schmidt, Konrad; Utermann, Gerd; Peters, Annette; Gieger, Christian; Strauch, Konstantin; Finkenstedt, Armin; Bale, Reto; Zoller, Heinz; Paulweber, Bernhard; Eckardt, Kai-Uwe; Huettenhofer, Alexander; Huber, Lukas A.; Kronenberg, Florian 分享 收藏
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Lack of association of rs3798220 with small apolipoprotein(a) isoforms and high lipoprotein(a) levels in East and Southeast Asians Khalifa, Mahmoud; Noureen, Asma; Ertelthalner, Kathrin; Bandegi, Ahmad Reza; Delport, Rhena; Firdaus, Wance J. J.; Geethanjali, Finney S.; Luthra, Kalpana; Makemaharn, Orawan; Pang, Richard W. C.; Salem, Abdel-Halim; Sasaki, Jun; Schiefenhoevel, Wulf; Lingenhel, Arno; Kronenberg, Florian; Utermann, Gerd; Schmidt, Konrad 分享 收藏
Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18 Spreiz, Ana; Guilherme, Roberta S.; Castellan, Claudio; Green, Andrew; Rittinger, Olaf; Wellek, Brigitte; Utermann, Barbara; Erdel, Martin; Fauth, Christine; Haberlandt, Edda; Kim, Chong A.; Kulikowski, Leslie D.; Meloni, Vera A.; Utermann, Gerd; Zschocke, Johannes; Melaragno, Maria I.; Kotzot, Dieter 分享 收藏
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation Fruehmesser, Anne; Blake, Jonathon; Haberlandt, Edda; Baying, Bianka; Raeder, Benjamin; Runz, Heiko; Spreiz, Ana; Fauth, Christine; Benes, Vladimir; Utermann, Gerd; Zschocke, Johannes; Kotzot, Dieter 分享 收藏
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TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone Huang, Lijia; Szymanska, Katarzyna; Jensen, Victor L.; Janecke, Andreas R.; Innes, A. Micheil; Davis, Erica E.; Frosk, Patrick; Li, Chunmei; Willer, Jason R.; Chodirker, Bernard N.; Greenberg, Cheryl R.; McLeod, D. Ross; Bernier, Francois P.; Chudley, Albert E.; Mueller, Thomas; Shboul, Mohammad; Logan, Clare V.; Loucks, Catrina M.; Beaulieu, Chandree L.; Bowie, Rachel V.; Bell, Sandra M.; Adkins, Jonathan; Zuniga, Freddi I.; Ross, Kevin D.; Wang, Jian; Ban, Matthew R.; Becker, Christian; Nuernberg, Peter; Douglas, Stuart; Craft, Cheryl M.; Akimenko, Marie-Andree; Hegele, Robert A.; Ober, Carole; Utermann, Gerd; Bolz, Hanno J.; Bulman, Dennis E.; Katsanis, Nicholas; Blacque, Oliver E.; Doherty, Dan; Parboosingh, Jillian S.; Leroux, Michel R.; Johnson, Colin A.; Boycott, Kym M. 分享 收藏
Adaptations to Climate-Mediated Selective Pressures in Humans Hancock, Angela M.; Witonsky, David B.; Alkorta-Aranburu, Gorka; Beall, Cynthia M.; Gebremedhin, Amha; Sukernik, Rem; Utermann, Gerd; Pritchard, Jonathan K.; Coop, Graham; Di Rienzo, Anna 分享 收藏
Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency Hancock, Angela M.; Witonsky, David B.; Ehler, Edvard; Alkorta-Aranburu, Gorka; Beall, Cynthia; Gebremedhin, Amha; Sukernik, Rem; Utermann, Gerd; Pritchard, Jonathan; Coop, Graham; Di Rienzo, Anna 分享 收藏
Loss-of-Function of MYO5B is the Main Cause of Microvillus Inclusion Disease: 15 Novel Mutations and a CaCo-2 RNAi Cell Model Ruemmele, Frank M.; Mueller, Thomas; Schiefermeier, Natalia; Ebner, Hannes L.; Lechner, Silvia; Pfaller, Kristian; Thoeni, Cornelia E.; Goulet, Olivier; Lacaille, Florence; Schmitz, Jacques; Colomb, Virginie; Sauvat, Frederique; Revillon, Yann; Canioni, Danielle; Brousse, Nicole; de Saint-Basile, Genevieve; Lefebvre, Juliette; Heinz-Erian, Peter; Enninger, Axel; Utermann, Gerd; Hess, Michael W.; Janecke, Andreas R.; Huber, Lukas A. 分享 收藏
Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome Duendar, Munis; Mueller, Thomas; Zhang, Qi; Pan, Jing; Steinmann, Beat; Vodopiutz, Julia; Gruber, Robert; Sonoda, Tohru; Krabichler, Birgit; Utermann, Gerd; Baenziger, Jacques U.; Zhang, Lijuan; Janecke, Andreas R. 分享 收藏
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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations Miltenberger-Miltenyi, Gabriel; Schwarzbraun, Thomas; Loescher, Wolfgang N.; Wanschitz, Julia; Windpassinger, Christian; Duba, Hans-Christoph; Seidl, Rainer; Albrecht, Gerhard; Weirich-Schwaiger, Helga; Zoller, Heinz; Utermann, Gerd; Auer-Grumbach, Michaela; Janecke, Andreas R. 分享 收藏
Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea Heinz-Erian, Peter; Mueller, Thomas; Krabichler, Birgit; Schranz, Melanie; Becker, Christian; Rueschendorf, Franz; Nuernberg, Peter; Rossier, Bernard; Vujic, Mihailo; Booth, Ian W.; Holmberg, Christer; Wijmenga, Cisca; Grigelioniene, Giedre; Kneepkens, C. M. Frank; Rosipal, Stefan; Mistrik, Martin; Kappler, Matthias; Michaud, Laurent; Doczy, Ludwig-Christoph; Siu, Victoria Mok; Krantz, Marie; Zoller, Heinz; Utermann, Gerd; Janecke, Andreas R. 分享 收藏
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity Mueller, Thomas; Hess, Michael W.; Schiefermeier, Natalia; Pfaller, Kristian; Ebner, Hannes L.; Heinz-Erian, Peter; Ponstingl, Hannes; Partsch, Joachim; Roellinghoff, Barbara; Koehler, Henrik; Berger, Thomas; Lenhartz, Henning; Schlenck, Barbara; Houwen, Roderick J.; Taylor, Christopher J.; Zoller, Heinz; Lechner, Silvia; Goulet, Olivier; Utermann, Gerd; Ruemmele, Frank M.; Huber, Lukas A.; Janecke, Andreas R. 分享 收藏
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations Witsch-Baumgartner, M.; Schwentner, I.; Gruber, M.; Benlian, P.; Bertranpetit, J.; Bieth, E.; Chevy, F.; Clusellas, N.; Estivill, X.; Gasparini, G.; Giros, M.; Kelley, R. I.; Krajewska-Walasek, M.; Menzel, J.; Miettinen, T.; Ogorelkova, M.; Rossi, M.; Scala, I.; Schinzel, A.; Schmidt, K.; Schoenitzer, D.; Seemanova, E.; Sperling, K.; Syrrou, M.; Talmud, P. J.; Wollnik, B.; Krawczak, M.; Labuda, D.; Utermann, G. 分享 收藏
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