Works matching AU Spreiz, A.

Results: 10

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 361, doi. 10.1111/cge.12288

By:

Spreiz, A.;
Haberlandt, E.;
Baumann, M.;
Baumgartner Sigl, S.;
Fauth, C.;
Gautsch, K.;
Karall, D.;
Janetschek, C.;
Rostasy, K.;
Scholl‐Bürgi, S.;
Zotter, S.;
Utermann, G.;
Zschocke, J.;
Kotzot, D.

Publication type:

Article

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1177, doi. 10.1038/ejhg.2013.18

By:

Frühmesser, Anne;
Blake, Jonathon;
Haberlandt, Edda;
Baying, Bianka;
Raeder, Benjamin;
Runz, Heiko;
Spreiz, Ana;
Fauth, Christine;
Benes, Vladimir;
Utermann, Gerd;
Zschocke, Johannes;
Kotzot, Dieter

Publication type:

Article

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy.

Published in:

Annals of Human Genetics, 2012, v. 76, n. 4, p. 326, doi. 10.1111/j.1469-1809.2012.00710.x

By:

Krabichler, Birgit;
Rostasy, Kevin;
Baumann, Matthias;
Karall, Daniela;
Scholl-Bürgi, Sabine;
Schwarzer, Christoph;
Gautsch, Kurt;
Spreiz, Ana;
Kotzot, Dieter;
Zschocke, Johannes;
Fauth, Christine;
Haberlandt, Edda

Publication type:

Article

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis Grossmann et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 548, doi. 10.1111/j.1399-0004.2010.01419.x

By:

Grossmann, V.;
Höckner, M.;
Karmous-Benailly, H.;
Liang, D.;
Puttinger, R.;
Quadrelli, R.;
Röthlisberger, B.;
Huber, A.;
Wu, L.;
Spreiz, A.;
Fauth, C.;
Erdel, M.;
Zschocke, J.;
Utermann, G.;
Kotzot, D.

Publication type:

Article

Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations.

Published in:

Cytogenetic & Genome Research, 2012, v. 136, n. 4, p. 242, doi. 10.1159/000337923

By:

Höckner, M.;
Spreiz, A.;
Frühmesser, A.;
Tzschach, A.;
Dufke, A.;
Rittinger, O.;
Kalscheuer, V.;
Singer, S.;
Erdel, M.;
Fauth, C.;
Grossmann, V.;
Utermann, G.;
Zschocke, J.;
Kotzot, D.

Publication type:

Article

Whole Genome Amplification from Microdissected Chromosomes.

Published in:

Cytogenetic & Genome Research, 2009, v. 125, n. 2, p. 98, doi. 10.1159/000227832

By:

Höckner, M.;
Erdel, M.;
Spreiz, A.;
Utermann, G.;
Kotzot, D.

Publication type:

Article

Gonosomale Mosaike.

Published in:

Medizinische Genetik, 2014, v. 26, n. 3, p. 309, doi. 10.1007/s11825-014-0013-3

By:

Spreiz, A.;
Kotzot, D.

Publication type:

Article

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

Published in:

Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3

By:

Vandewalle, Joke;
Bauters, Marijke;
Van Esch, Hilde;
Belet, Stefanie;
Verbeeck, Jelle;
Fieremans, Nathalie;
Holvoet, Maureen;
Vento, Jodie;
Spreiz, Ana;
Kotzot, Dieter;
Haberlandt, Edda;
Rosenfeld, Jill;
Andrieux, Joris;
Delobel, Bruno;
Dehouck, Marie-Bertille;
Devriendt, Koen;
Fryns, Jean-Pierre;
Marynen, Peter;
Goldstein, Amy;
Froyen, Guy

Publication type:

Article

Formation of a familial ring chromosome 18 investigated by SNP-array analysis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1854, doi. 10.1002/ajmg.a.36496

By:

Balci, Sevim;
Zschocke, Johannes;
Kotzot, Dieter;
Ergün, Mehmet Ali;
Spreiz, Ana

Publication type:

Article

Microdeletion 19p13.2 in an almost 5-year-old boy.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1190, doi. 10.1002/ajmg.a.35291

By:

Haberlandt, Edda;
Spreiz, Ana;
Sigl, Sara Baumgartner;
Janetschek, Carolin;
Röthlisberger, Benno;
Zotter, Sibylle;
Rostasy, Kevin;
Zschocke, Johannes;
Kotzot, Dieter

Publication type:

Article