Works by Kotzot, D.

Results: 14

It’s not always Wilson’s disease - a novel heterozygous variant in the CP-gene associated with hereditary hypoceruloplasminemia.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2022, v. 74, p. 748, doi. 10.1097/MPG.0000000000003446

By:

Dalus, C.;
Griesacker, T.;
Pixner, T.;
Aigner, E.;
Mayr, J.;
Kotzot, D.;
Schneider, A.-M.;
Weghuber, D.

Publication type:

Article

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

Modification of risk for cancer as a coincidental finding in DNA array investigation.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 284, doi. 10.1111/j.1399-0004.2012.01881.x

By:

Rostasy, K;
Fauth, C;
Gautsch, K;
Laimer, I;
Krabichler, B;
Wimmer, K;
Frühmesser, A;
Kotzot, D;
Moshir, S

Publication type:

Article

Homozygosity of the cystic fibrosis () gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD).

Published in:

Molecular Human Reproduction, 2000, v. 6, n. 7, doi. 10.1093/molehr/6.7.669

By:

Fokstuen, S.;
Balakrishnan, J.;
Kotzot, D.;
Hergersberg, M.;
Hobi, Ch.

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

Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region.

Published in:

Clinical Genetics, 2001, v. 60, n. 3, p. 226, doi. 10.1034/j.1399-0004.2001.600309.x

By:

Kotzot, D

Publication type:

Article

No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation.

Published in:

Clinical Genetics, 2000, v. 58, n. 3, p. 177, doi. 10.1034/j.1399-0004.2000.580304.x

By:

Kotzot, D;
Lurie, IW;
Méhes, K;
Werder, E;
Schinzel, A

Publication type:

Article

Maternal uniparental disomy 7--review and further delineation of the phenotype.

Published in:

2000

By:

Kotzot, D.;
Balmer, D.;
Baumer, A.;
Chrzanowska, K.;
Hamel, B. C. J.;
Ilyina, H.;
Krajewska-Walasek, M.;
Lurie, I. W.;
Otten, B. J.;
Schoenle, E.;
Tariverdian, G.;
Schinzel, A.;
Hamel, B C

Publication type:

journal 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

Two complementary recombinant chromosomes 5 in a healthy woman.

Published in:

Cytogenetic & Genome Research, 2006, v. 114, n. 2, p. 178, doi. 10.1159/000093336

By:

Bartsch, O.;
Ergun, M. A.;
Balci, S.;
Kan, D.;
Eggermann, T.;
Kotzot, D.

Publication type:

Article

Prenatal testing for uniparental disomy: indications and clinical relevance.

Published in:

Ultrasound in Obstetrics & Gynecology, 2008, v. 31, n. 1, p. 100, doi. 10.1002/uog.5133

By:

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

Uniparentale Disomien.

Published in:

Medizinische Genetik, 2010, v. 22, n. 4, p. 439, doi. 10.1007/s11825-010-0242-z

By:

Eggermann, T.;
Kotzot, D.

Publication type:

Article