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1

Chromosomal Variants in Klinefelter Syndrome

Frühmesser, A., Kotzot, D.

Journal:

Sexual Development

Year:

2011

Language:

english

File:

PDF, 277 KB

english, 2011

2

Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis

Bachmann, Nadine, Crazzolara, Roman, Bohne, Florian, Kotzot, Dieter, Maurer, Kathrin, Enklaar, Thorsten, Prawitt, Dirk, Bergmann, Carsten

Journal:

Pediatric Blood & Cancer

Year:

2016

Language:

english

File:

PDF, 924 KB

english, 2016

3

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature

Unterberger, Iris, Dobesberger, Judith, Schober, Harald, Krabichler, Birgit, Lamina, Claudia, Schatz, Ulrich, Zschocke, Johannes, Luef, Gerhard, Kotzot, Dieter, Fauth, Christine

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 779 KB

english, 2018

4

Variant of Coffin-Siris syndrome or previously undescribed syndrome?

Braun-Quentin, Cordula, Kapferer, Lydia, Kotzot, Dieter

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 483 KB

english, 1996

5

Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 106 KB

english, 1999

6

?Essentially pure? partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3)

R�thlisberger, Benno, Kotzot, Dieter, Gnehm, Hanspeter E., Schinzel, Albert

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 461 KB

english, 1999

7

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

Wang, Michael S., Schinzel, Albert, Kotzot, Dieter, Balmer, Damina, Casey, Robin, Chodirker, Bernie N., Gyftodimou, Jolanda, Petersen, Michael B., Lopez-Rangel, Elana, Robinson, Wendy P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

8

Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?

Achermann, Sibylla, Largo, Remo, Kotzot, Dieter, Riegel, Mariluce, Schinzel, Albert

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 400 KB

english, 1999

9

Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome?

Sibylla Weymann, Yasuhiro Yonekawa, Nadia Khan, Ernst Martin, Frank L. Heppner, Prof., Dr. Albert Schinzel, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 285 KB

english, 2001

10

No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome

Maria-Jose Martinez, Franz Binkert, Albert Schinzel, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 54 KB

english, 2001

11

Wolf–Hirschhorn syndrome due to a 3:1 segregation of a maternal balanced t(4;15)(p16.3;q11) translocation

Urs Zimmermann-Bär, Thomas Stallmach, Mariluce Riegel, Ute Wiedemann, Jean-Claude Fauchère, Franz Binkert, Dieter Kotzot

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 82 KB

english, 2000

12

Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 91 KB

english, 2002

13

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

Dieter Kotzot, Andreas Dufke, Andreas Tzschach, Iris-Tatjana Baeckert-Sifeddine, Martin. Geppert, Heidrun Holland, Jobst M. Florus, Ursula G. Froster

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 152 KB

english, 2002

14

Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype

Dieter Kotzot, Kathrin Hoffmann, Annegret Kujat, Heidrun Holland, Ursula G. Froster, Jürgen Mücke

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 83 KB

english, 2002

15

Manifestation of heterozygosity in Papillon-Lefèvre syndrome?

Dr. Dieter Kotzot, Rudolf A. Pfeiffer

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 80 KB

english, 1993

16

Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?

Dr. Dieter Kotzot, Konrad Richter, Kornelia Gierth-Fiebig

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 390 KB

english, 1994

17

Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation

Dieter Kotzot, Heidrun Holland, Eberhard Keller, Ursula G. Froster

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 113 KB

english, 2001

18

Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome

Wolfram Heinritz, Dieter Kotzot, Stefan Heinze, Annegret Kujat, Werner J. Kleemann, Ursula G. Froster

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 169 KB

english, 2005

19

Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

Dieter Kotzot, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 204 KB

english, 2005

20

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

Dieter Kotzot, Edda Haberlandt, Christine Fauth, Sara Baumgartner, Sabine Scholl-Bürgi, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

21

Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome

Edda Haberlandt, Christine Svejda, Stefan Felber, Sara Baumgartner, Barbara Günther, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 156 KB

english, 2006

22

Recurrence risk in de novo structural chromosomal rearrangements

Benno Röthlisberger, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

23

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman

Martina Höckner, Barbara Utermann, Martin Erdel, Christine Fauth, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

24

“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype

Vera Grossmann, Doris Müller, Wilfried Müller, Friedrich Fresser, Martin Erdel, Andreas R. Janecke, Johannes Zschocke, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

25

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)

Ana Spreiz, Doris Müller, Sibylle Zotter, Ursula Albrecht, Matthias Baumann, Christine Fauth, Martin Erdel, Johannes Zschocke, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 235 KB

english, 2010

26

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders

Jürgen Kohlhase, David Chitayat, Dieter Kotzot, Serdar Ceylaner, Ursula G. Froster, Sigrun Fuchs, Tara Montgomery, Bernd Rösler

Journal:

Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

27

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Claus E. Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G. Brunner, Wim Brussel, Encarna Guillen-Navarro, Claudia Haase, Juergen Kohlhase, Dieter Kotzot, Andrew Lane, Min Ae Lee-Kirsch, S

Journal:

Year:

2010

Language:

english

File:

PDF, 115 KB

english, 2010

28

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

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

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 60 KB

english, 2000

29

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

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 8.14 MB

english, 2001

30

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus

D. Kotzot, F. Bernasconi, L. Brecevic, W. P. Robinson, P. Kiss, G. Kosztolanyi, I. W. Lurie, A. Superti-Furga, A. Schinzel

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 1.14 MB

english, 1995

31

Epigenetik und pädiatrische Krankheitsbilder

O. Rittinger, D. Kotzot

Journal:

Monatsschrift Kinderheilkunde

Year:

2005

Language:

german

File:

PDF, 1.30 MB

german, 2005

32

Growth parameters in maternal uniparental disomy 7 and 14

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 188 KB

english, 2007

33

Maternal uniparental disomy 7 – review and further delineation of the phenotype

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

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 410 KB

english, 2000

34

Uniparentale Disomien

T. Eggermann, D. Kotzot

Journal:

medizinische genetik

Year:

2010

File:

PDF, 639 KB

2010

35

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

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

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 548 KB

english, 2010

36

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes

Röthlisberger, Benno, Kotzot, Dieter, Brecevic, Lukrecija, Koehler, Michael, Balmer, Damina, Binkert, Franz, Schinzel, Albert

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.10 MB

english, 1999

37

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

Kotzot, Dieter, Schinzel, Albert

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 113 KB

english, 2000

38

Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 62 KB

english, 2004

39

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene

Eggermann, Thomas, Zerres, Klaus, Anhuf, Dirk, Kotzot, Dieter, Fauth, Christine, Rudnik-Schöneborn, Sabine

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 142 KB

english, 2004

40

A new molecular approach to investigate origin and formation of structural chromosome aberrations

Benno Röthlisberger, Albert Schinzel, Dieter Kotzot

Journal:

Chromosome Research

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

41

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 264 KB

english, 2012

42

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype

Anne Frühmesser, Edda Haberlandt, Werner Judmaier, Albert Schinzel, Barbara Utermann, Martin Erdel, Christine Fauth, Gerd Utermann, Johannes Zschocke, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 607 KB

english, 2012

43

Hydantoin syndrome with holoprosencephaly: A possible rare teratogenic effect

Dr. Dieter Kotzot, Josef Weigl, Walter Huk, Hans-Dieter Rott

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1993

Language:

english

File:

PDF, 439 KB

english, 1993

44

Prenatal testing for uniparental disomy: indications and clinical relevance

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2008

Language:

english

File:

PDF, 75 KB

english, 2008

45

Mental retardation, developmental delay, and partial psychomotor deficits in maternal uniparental disomy 7

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 40 KB

english, 2000

46

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

Anna Schossig, Nicole I. Wolf, Christine Fischer, Maria Fischer, Gernot Stocker, Stephan Pabinger, Andreas Dander, Bernhard Steiner, Otmar Tönz, Dieter Kotzot, Edda Haberlandt, Albert Amberger, Barbar

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 632 KB

english, 2012

47

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 149 KB

english, 2004

48

A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridisation, and spectral karyotyping

D Kotzot, H Holland, M Köhler, U.G Froster

Journal:

Annales de Génétique

Year:

2001

Language:

english

File:

PDF, 220 KB

english, 2001

49

De novo direct duplication 3 (p25→pter): a previously undescribed chromosomal aberration

Dieter Kotzot, Carsten Kriiger, Cordula Braun-Quentin

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 774 KB

english, 1996

50

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

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

Journal:

Annals of Human Genetics

Year:

2012

Language:

english

File:

PDF, 973 KB

english, 2012