Reply to Ogino and Wilson

Por Feldkötter, Markus, Schwarzer, Verena, Wirth, Radu, Wienker, Thomas F., Wirth, Brunhilde
Publicado em 2002

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Por Feldkötter, Markus, Schwarzer, Verena, Wirth, Radu, Wienker, Thomas F., Wirth, Brunhilde
Publicado em 2002

Evaluating information content of SNPs for sample-tagging in re-sequencing projects

Por Hu, Hao, Liu, Xiang, Jin, Wenfei, Hilger Ropers, H, Wienker, Thomas F
Publicado no Sci Rep (2015)

Linkage analysis of alcohol dependence using MOD scores

Por Strauch, Konstantin, Fürst, Robert, Rüschendorf, Franz, Windemuth, Christine, Dietter, Johannes, Flaquer, Antonia, Baur, Max P, Wienker, Thomas F
Publicado em 2005

Investigation of a Family with Autosomal Dominant Dilated Cardiomyopathy Defines a Novel Locus on Chromosome 2q14-q22

Por Jung, Martin, Poepping, Imke, Perrot, Andreas, Ellmer, Annette E., Wienker, Thomas F., Dietz, Rainer, Reis, André, Osterziel, Karl Josef
Publicado em 1999

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Por Hu, Hao, Hübner, Christoph, Lukacs, Zoltan, Musante, Luciana, Gill, Esther, Wienker, Thomas F, Ropers, Hans-Hilger, Knierim, Ellen, Schuelke, Markus
Publicado no Eur J Hum Genet (2017)

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Por Hu, Hao, Suckow, Vanessa, Musante, Luciana, Roggenkamp, Viola, Kraemer, Nadine, Ropers, Hans-Hilger, Hübner, Christoph, Wienker, Thomas F, Kaindl, Angela M
Publicado em 2014

Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36

Por Bosse, Kristin, Betz, Regina C., Lee, Young-Ae, Wienker, Thomas F., Reis, André, Kleen, Heidi, Propping, Peter, Cichon, Sven, Nöthen, Markus M.
Publicado em 2000

Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13

Por Lee, Young-Ae, Rüschendorf, Franz, Windemuth, Christine, Schmitt-Egenolf, Marcus, Stadelmann, Antje, Nürnberg, Gudrun, Ständer, Markward, Wienker, Thomas F., Reis, André, Traupe, Heiko
Publicado em 2000

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

Por Stöber, Gerald, Saar, Kathrin, Rüschendorf, Franz, Meyer, Jobst, Nürnberg, Gudrun, Jatzke, Susanne, Franzek, Ernst, Reis, André, Lesch, Klaus-Peter, Wienker, Thomas F., Beckmann, Helmut
Publicado em 2000

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Por Davarniya, Behzad, Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Hosseini, Masoumeh, Maqsoud, Fariba, Farajollahi, Reza, Wienker, Thomas F., Ropers, H. Hilger, Najmabadi, Hossein
Publicado no PLoS One (2015)

VarWatch—A stand-alone software tool for variant matching

Por Fredrich, Broder, Schmöhl, Marcus, Junge, Olaf, Gundlach, Sven, Ellinghaus, David, Pfeufer, Arne, Bettecken, Thomas, Siddiqui, Roman, Franke, Andre, Wienker, Thomas F., Hoeppner, Marc P., Krawczak, Michael
Publicado no PLoS One (2019)

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

Por Grohmann, Katja, Wienker, Thomas F., Saar, Kathrin, Rudnik-Schöneborn, Sabine, Stoltenburg-Didinger, Gisela, Rossi, Rainer, Novelli, Giuseppe, Nürnberg, Gudrun, Pfeufer, Arne, Wirth, Brunhilde, Reis, André, Zerres, Klaus, Hübner, Christoph
Publicado em 1999

Polymorphisms in the Genes Encoding Chemokine Receptor 5, Interleukin-10, and Monocyte Chemoattractant Protein 1 Contribute to Cytomegalovirus Reactivation and Disease after Alloge...

Por Loeffler, Juergen, Steffens, Michael, Arlt, Eva-Maria, Toliat, Mohammad-Reza, Mezger, Markus, Suk, Anita, Wienker, Thomas F., Hebart, Holger, Nürnberg, Peter, Boeckh, Michael, Ljungman, Per, Trenschel, Rudolf, Einsele, Hermann
Publicado em 2006

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

Por Larti, Farzaneh, Kahrizi, Kimia, Musante, Luciana, Hu, Hao, Papari, Elahe, Fattahi, Zohreh, Bazazzadegan, Niloofar, Liu, Zhe, Banan, Mehdi, Garshasbi, Masoud, Wienker, Thomas F, Ropers, H Hilger, Galjart, Niels, Najmabadi, Hossein
Publicado no Eur J Hum Genet (2015)

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

Por Larti, Farzaneh, Kahrizi, Kimia, Musante, Luciana, Hu, Hao, Papari, Elahe, Fattahi, Zohreh, Bazazzadegan, Niloofar, Liu, Zhe, Banan, Mehdi, Garshasbi, Masoud, Wienker, Thomas F, Hilger Ropers, H, Galjart, Niels, Najmabadi, Hossein
Publicado no Eur J Hum Genet (2015)

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Por Hartmann, Bianca, Wai, Timothy, Hu, Hao, MacVicar, Thomas, Musante, Luciana, Fischer-Zirnsak, Björn, Stenzel, Werner, Gräf, Ralph, van den Heuvel, Lambert, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Langer, Thomas, Kaindl, Angela M
Publicado no eLife (2016)

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Por Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V Reid, Gibbs, Richard A, Ropers, H Hilger
Publicado em 2013

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

Por Stanke, Frauke, Becker, Tim, Kumar, Vinod, Hedtfeld, Silke, Becker, Christian, Cuppens, Harry, Tamm, Stephanie, Yarden, Jennifer, Laabs, Ulrike, Siebert, Benny, Fernandez, Luis, Macek, Milan, Radojkovic, Dragica, Ballmann, Manfred, Greipel, Joachim, Cassiman, Jean-Jacques, Wienker, Thomas F, Tümmler, Burkhard
Publicado em 2010

The opioid peptides enkephalin and β-endorphin in alcohol dependence

Por Racz, Ildiko, Schürmann, Britta, Karpushova, Anna, Reuter, Martin, Cichon, Sven, Montag, Christian, Fürst, Robert, Schütz, Christian, Franke, Petra E., Strohmaier, Jana, Wienker, Thomas F., Terenius, Lars, Ösby, Urban, Gunnar, Agneta, Maier, Wolfgang, Bilkei-Gorzó, Andras, Nöthen, Markus, Zimmer, Andreas
Publicado em 2008