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1

Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty

Stefan Aretz, Ruth Raff, Joachim Woelfle, Klaus Zerres, Marianne Esser, Peter Propping, Thomas Eggermann

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

2

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Laszlo Furu, Luiz F. Onuchic, Sandro Rossett

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

3

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

Thomas Eggermann, Katja Eggermann, Nadine Schönherr

Journal:

Trends in Genetics

Year:

2008

Language:

english

File:

PDF, 750 KB

english, 2008

4

Mutation analysis of the growth factor genes PlGF, Flt1, IGF-I , and IGF-IR in intrauterine growth restriction with abnormal placental blood flow

Muetze, Sabine, Kapagerof, Athina, Vlachopoulos, Lazaros, Eggermann, Thomas, Kaufmann, Peter, Zerres, Klaus, Rath, Werner, Rudnik-Schoeneborn, Sabine

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2010

Language:

english

File:

PDF, 305 KB

english, 2010

5

Gene Dosage Analysis in Silver-Russell Syndrome: Use of Quantitative Competitive PCR and Dual-Color FISH to Estimate the Frequency of Duplications in 7p11.2–p13

Mergenthaler, Susanne, Sharp, Andrew, Ranke, Michael B., Kalscheuer, Vera M., Wollmann, Hartmut A., Eggermann, Thomas

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 245 KB

english, 2001

6

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

Monk, David, Mackay, Deborah J. G., Eggermann, Thomas, Maher, Eamonn R., Riccio, Andrea

Journal:

Nature Reviews Genetics

Year:

2019

Language:

english

File:

PDF, 1.94 MB

english, 2019

7

Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue-specific mosaicism and loss of i(12p) by in vitro selection

Schubert, Regine, Viersbach, Renate, Eggermann, Thomas, Hansmann, Manfred, Schwanitz, Gesa

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 102 KB

english, 1997

8

Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene

Patrick Kloos, Susanne Mergenthaler, Michael B. Ranke, Hartmut A. Wollmann, Thomas Eggermann

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

9

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

Thomas Eggermann, Sabrina Spengler, Nadine Bachmann, Michael Baudis, Ulrike A. Mau-Holzmann, Sylke Singer, Eva Rossier

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

10

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

Matthias Begemann, Sabrina Spengler, Ulrike Kordaß, Carmen Schröder, Thomas Eggermann

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 637 KB

english, 2012

11

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner, Klaus Zerres

Journal:

Year:

2004

Language:

english

File:

PDF, 163 KB

english, 2004

12

A rapid microarray based whole genome analysis for detection of uniparental disomy

Özge Altug-Teber, Andreas Dufke, Sven Poths, Ulrike Angelika Mau-Holzmann, Murat Bastepe, Laurence Colleaux, Valérie Cormier-Daire, Thomas Eggermann, Gabriele Gillessen-Kaesbach, Michael Bonin, Olaf R

Journal:

Year:

2005

Language:

english

File:

PDF, 282 KB

english, 2005

13

Silver-Russell syndrome: genetic basis and molecular genetic testing

Thomas Eggermann, Matthias Begemann, Gerhard Binder, Sabrina Spengler

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 375 KB

english, 2010

14

Cystinuria: an inborn cause of urolithiasis

Thomas Eggermann, Andreas Venghaus, Klaus Zerres

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 381 KB

english, 2012

15

Genomic and Functional Investigations of Mutations of the SLC3A1 Gene in Cystinuria

Lahme, Sven, Bichler, Karl-Horst, Eggermann, Thomas, Lang, Florian

Journal:

Urologia Internationalis

Year:

2002

Language:

english

File:

PDF, 72 KB

english, 2002

16

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Eggermann, Thomas, Elbracht, Miriam, Kurth, Ingo, Juul, Anders, Johannsen, Trine Holm, Netchine, IrÃ¨ne, Mastorakos, George, Johannsson, Gudmundur, Musholt, Thomas J., Zenker, Martin, Prawitt, Dirk, P

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 741 KB

2020

17

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Eggermann, Thomas, Kadgien, Gundula, Begemann, Matthias, Elbracht, Miriam

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1019 KB

2020

18

New case of mosaic tetrasomy 9p with additional neurometabolic findings

Eggermann, Thomas, Rossier, Eva, Theurer-Mainka, Ute, Backsch, Claudia, Klein-Vogler, Ute, Enders, Herbert, Kaiser, Peter

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 171 KB

english, 1998

19

Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin

Oner, Guner, Jauch, Anna, Eggermann, Thomas, Hardwick, R., Kirsch, Stefan, Schiebel, Katrin, Rappold, Gudrun, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 946 KB

english, 2000

20

Rare case of de novo interstitial deletion 2q13q21: Clinical, cytogenetic, and molecular studies

Eggermann, Katja, Dufke, Andreas, Enders, Herbert, Kaiser, Peter, St�tter, Mechthild, Eggerman, Thomas

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

21

Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature

Regine Schubert, Thomas Eggermann, Cornelia Hofstaetter, Barbara von Netzer, Gisela Knöpfle, Gesa Schwanitz

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

22

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene

Luiz F. Onuchic, Michal Mrug, Xiaoying Hou, Thomas Eggermann, Carsten Bergmann, Klaus Zerres, Ellis D. Avner, Laszlo Furu, Stefan Somlo, Yasuyuki Nagasawa, Gregory G. Germino, Lisa M. Guay-Woodford

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 182 KB

english, 2002

23

Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature

Katja Eggermann, Carsten Bergmann, Inge Heil, Thomas Eggermann, Klaus Zerres, Herdit M. Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

24

Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q

Thomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, Christiane Heidrich-Kaul, Ruth Raff, Esther Meyer, Ingeborg Heil, Herdit Schüler, Eckhard Korsch, Gesa Schwanitz

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 186 KB

english, 2005

25

Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years

Ulrike Gamerdinger, Thomas Eggermann, Regine Schubert, Gesa Schwanitz, Martina Kreiß-Nachtsheim

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 355 KB

english, 2008

26

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant

Andreas Roos, Miriam Elbracht, Michael Baudis, Jan Senderek, Nadine Schönherr, Thomas Eggermann, Herdit M. Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 143 KB

english, 2008

27

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Hartmut Engels, Thomas Eggermann, Almut Caliebe, Anna Jelska, Regine Schubert, Herdit M. Schüler, Barbara Panasiuk, Jacek Zaremba, Anna Latos-Bieleńska, Lucjusz Jakubowski, Klaus P. Zerres, Gesa Schwa

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 78 KB

english, 2008

28

Identification of a 21q22 duplication in a Silver–Russell syndrome patient further narrows down the Down syndrome critical region

Thomas Eggermann, Nadine Schönherr, Sabrina Spengler, Susanne Jäger, Bernd Denecke, Gerhard Binder, Michael Baudis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 129 KB

english, 2010

29

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

Sabine Rudnik-Schöneborn, Tsutomu Takahashi, Sabine Busse, Thorsten Schmidt, Jan Senderek, Thomas Eggermann, Klaus Zerres

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

30

Russell–Silver syndrome

Thomas Eggermann

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2010

Language:

english

File:

PDF, 392 KB

english, 2010

31

Genetic variation in the schizophrenia-risk gene neuregulin 1 correlates with brain activation and impaired speech production in a verbal fluency task in healthy individuals

Tilo Kircher, Axel Krug, Valentin Markov, Carin Whitney, Sören Krach, Klaus Zerres, Thomas Eggermann, Tony Stöcker, Nadim Jon Shah, Jens Treutlein, Markus M. Nöthen, Tim Becker, Marcella Rietschel

Journal:

Human Brain Mapping

Year:

2009

Language:

english

File:

PDF, 257 KB

english, 2009

32

Impact of schizophrenia-risk gene dysbindin 1 on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals

Valentin Markov, Axel Krug, Sören Krach, Andreas Jansen, Thomas Eggermann, Karl Zerres, Tony Stöcker, N. Jon Shah, Markus M. Nöthen, Jens Treutlein, Marcella Rietschel, Tilo Kircher

Journal:

Human Brain Mapping

Year:

2010

Language:

english

File:

PDF, 208 KB

english, 2010

33

The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval

Markus Thimm, Axel Krug, Valentin Markov, Sören Krach, Andreas Jansen, Klaus Zerres, Thomas Eggermann, Tony Stöcker, Nadim Jon Shah, Markus M. Nöthen, Marcella Rietschel, Tilo Kircher

Journal:

Human Brain Mapping

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

34

Genetic variation in G72 correlates with brain activation in the right middle temporal gyrus in a verbal fluency task in healthy individuals

Axel Krug, Valentin Markov, Sören Krach, Andreas Jansen, Klaus Zerres, Thomas Eggermann, Tony Stöcker, N Jon Shah, Markus M Nöthen, Alexander Georgi, Jana Strohmaier, Marcella Rietschel, Tilo Kircher

Journal:

Human Brain Mapping

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

35

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Dirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, Klaus Zerres

Journal:

Year:

2003

Language:

english

File:

PDF, 112 KB

english, 2003

36

Search for uniparental disomy 14 in balanced Robertsonian translocation carriers

Thomas Eggermann, Michael Wolf, Christina Spaich, Gökhan Uyanik, Gerhard Wolff, Katja Eggermann, Ulrike A Mau, Peter Kaiser

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 97 KB

english, 1999

37

Phenotype Diversity in Familial Cylindromatosis: A Frameshift Mutation in the Tumor Suppressor Gene CYLD Underlies Different Tumors of Skin Appendages

Gutierrez, Pamela Poblete, Eggermann, Thomas, Holler, Daniela, Jugert, Frank K., Beermann, Torsten, Grussendorf-Conen, Elke-Ingrid, Zerres, Klaus, Merk, Hans F., Frank, Jorge

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 273 KB

english, 2002

38

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria

Schmidt, Christa, Vester, Udo, Wagner, Carsten A., Lahme, Sven, Hesse, Albrecht, Hoyer, Peter, Lang, Florian, Zerres, Klaus, Eggermann, Thomas

Journal:

Kidney International

Year:

2003

Language:

english

File:

PDF, 1.08 MB

english, 2003

39

Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects

Andreas Jansen, Sören Krach, Axel Krug, Valentin Markov, Thomas Eggermann, Klaus Zerres, Markus Thimm, Markus M Nöthen, Jens Treutlein, Marcella Rietschel, Tilo Kircher

Journal:

Year:

2009

Language:

english

File:

PDF, 853 KB

english, 2009

40

Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome)

Markus M. Nöthen, Thomas Eggermann, Jeanette Erdmann, Bernd Eiben, Dieter Hofmann, Peter Propping, Gesa Schwanitz

Journal:

Year:

1993

Language:

english

File:

PDF, 503 KB

english, 1993

41

Interleukin-1 Polymorphisms in Relation to External Apical Root Resorption (EARR)

Norbert Gülden, Thomas Eggermann, Klaus Zerres, Michael Beer, Anica Meinelt, Peter Diedrich

Journal:

Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopädie

Year:

2009

File:

PDF, 876 KB

2009

42

The population-specific distribution and frequencies of genomic variants in theSLC3A1andSLC7A9genes and their application in molecular genetic testing of cystinuria

Christa Schmidt, Udo Vester, Albrecht Hesse, Sven Lahme, Florian Lang, Klaus Zerres, Thomas Eggermann, members of the Arbeitsgemeinschaft Pädiatrische Nephrologie

Journal:

Year:

2004

Language:

english

File:

PDF, 159 KB

english, 2004

43

The effect of the COMT val158met polymorphism on neural correlates of semantic verbal fluency

Axel Krug, Valentin Markov, Abigail Sheldrick, Sören Krach, Andreas Jansen, Klaus Zerres, Thomas Eggermann, Tony Stöcker, N. Jon Shah, Tilo Kircher

Journal:

European Archives of Psychiatry and Clinical Neuroscience

Year:

2009

Language:

english

File:

PDF, 225 KB

english, 2009

44

Uniparental disomy: clinical indications for testing in growth retardation

Thomas Eggermann, Klaus Zerres, Katja Eggermann, Gudrun Moore, Hartmut A. Wollmann

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 147 KB

english, 2002

45

Xanthinuria type I: a rare cause of urolithiasis

Nina Arikyants, Ashot Sarkissian, Albrecht Hesse, Thomas Eggermann, Ernst Leumann, Beat Steinmann

Journal:

Pediatric Nephrology

Year:

2007

Language:

english

File:

PDF, 164 KB

english, 2007

46

Mutations of theLMNAgene can mimic autosomal dominant proximal spinal muscular atrophy

Sabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, Jan Senderek, Benedikt G. H. Schoser, Rolf Schröder, Manfred Wehnert, Brunhilde Wirth, Klaus Zerres

Journal:

Year:

2007

Language:

english

File:

PDF, 284 KB

english, 2007

47

The 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene is not associated with HELLP syndrome

Sabine Muetze, Thomas Eggermann, Brigitte Leeners, Cornelia Birke, Sabine Kuse, Jan Rudolf Ortlepp, Sabine Rudnik-Schoeneborn, Klaus Zerres, Werner Rath

Journal:

Journal of Thrombosis and Thrombolysis

Year:

2009

Language:

english

File:

PDF, 205 KB

english, 2009

48

Molecular and cytogenate analysis of an X/autosomal translocation: 45, X, dic(X;17)(p22.2;p13)

Thomas Eggermann, Ulrike Mau, Ute Klein-Vogler, Heidemarie Kendziorra, Susanne Mackensen-Haen, Ludger Sieverding, Herbert Enders, Peter Kaiser

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.45 MB

english, 1998

49

Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

Botzenhart, Elke, Vester, Udo, Schmidt, Christa, Hesse, Albrecht, Halber, Marc, Wagner, Carsten, Lang, Florian, Hoyer, Peter, Zerres, Klaus, Eggermann, Thomas

Journal:

Kidney International

Year:

2002

Language:

english

File:

PDF, 81 KB

english, 2002

50

Clinical utility gene card for: Silver–Russell syndrome

Eggermann, Thomas, Buiting, Karin, Temple, I Karen

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010