Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

Eva Klopocki

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Procedures

Disorders

Physiology

Chemicals & Drugs

Phenomena

Nucleic Acid Hybridization

Anatomy

Living Beings

Infant

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
Dutrannoy Véronique; Klopocki Eva; Wei Ran; Bommer Christiane; Mundlos Stefan; Graul-Neumann Luitgard M; Trimborn Marc
De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.
Kurth Ingo; Klopocki Eva; Stricker Sigmar; van Oosterwijk Jolieke; Vanek Sebastian; Altmann Jens; Santos Heliosa G; van Harssel Jeske J T; de Ravel Thomy; Wilkie Andrew O M; Gal Andreas; Mundlos Stefan
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Raile Klemens; Klopocki Eva; Holder Martin; Wessel Theda; Galler Angela; Deiss Dorothee; Müller Dominik; Riebel Thomas; Horn Denise; Maringa Monika; Weber Jürgen; Ullmann Reinhard; Grüters Annette
Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of Eva Klopocki (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: Dutrannoy Véronique; Klopocki Eva; Wei Ran; Bommer Christiane; Mundlos Stefan; Graul-Neumann Luitgard M; Trimborn Marc
De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.
European journal of medical genetics 2009;52(6):450-3.
2009: Kurth Ingo; Klopocki Eva; Stricker Sigmar; van Oosterwijk Jolieke; Vanek Sebastian; Altmann Jens; Santos Heliosa G; van Harssel Jeske J T; de Ravel Thomy; Wilkie Andrew O M; Gal Andreas; Mundlos Stefan
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Nature genetics 2009;41(8):862-3.
2009: Raile Klemens; Klopocki Eva; Holder Martin; Wessel Theda; Galler Angela; Deiss Dorothee; Müller Dominik; Riebel Thomas; Horn Denise; Maringa Monika; Weber Jürgen; Ullmann Reinhard; Grüters Annette
Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.
The Journal of clinical endocrinology and metabolism 2009;94(7):2658-64.
2009: Dathe Katarina; Kjaer Klaus W; Brehm Anja; Meinecke Peter; Nürnberg Peter; Neto Jordao C; Brunoni Decio; Tommerup Nils; Ott Claus E; Klopocki Eva; Seemann Petra; Mundlos Stefan
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.
American journal of human genetics 2009;84(4):483-92.
2008: Raile Klemens; Klopocki Eva; Wessel Theda; Deiss Dorothee; Horn Denise; Müller Dominik; Ullmann Reinhard; Grüters Annette
HNF1B abnormality (mature-onset diabetes of the young 5) in children and adolescents: high prevalence in autoantibody-negative type 1 diabetes with kidney defects.
Diabetes care 2008;31(11):e83.
2008: Busche Andreas; Klopocki Eva; Ullmann Reinhard; Mundlos Stefan; Horn Denise
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.
European journal of medical genetics 2008;51(6):615-21.
2008: Schell-Apacik Chayim Can; Wagner Kristina; Bihler Moritz; Ertl-Wagner Birgit; Heinrich Uwe; Klopocki Eva; Kalscheuer Vera M; Muenke Maximilian; von Voss Hubertus
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
American journal of medical genetics. Part A 2008;146A(19):2501-11.
2008: Najm Juliane; Horn Denise; Wimplinger Isabella; Golden Jeffrey A; Chizhikov Victor V; Sudi Jyotsna; Christian Susan L; Ullmann Reinhard; Kuechler Alma; Haas Carola A; Flubacher Armin; Charnas Lawrence R; Uyanik Gökhan; Frank Ulrich; Klopocki Eva; Dobyns William B; Kutsche Kerstin
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nature genetics 2008;40(9):1065-7.
2008: Manzke Hermann; Lehmann Katarina; Klopocki Eva; Caliebe Almuth
Catel-Manzke syndrome: two new patients and a critical review of the literature.
European journal of medical genetics 2008;51(5):452-65.
2008: Schell-Apacik Chayim; Hardt Michael; Ertl-Wagner Birgit; Klopocki Eva; Möhrenschlager Matthias; Heinrich Uwe; von Voss Hubertus
Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.
European journal of pediatrics 2008;167(9):1057-62.
2008: Klopocki Eva; Graul-Neumann Luitgard M; Grieben Ulrike; Tönnies Holger; Ropers Hans-Hilger; Horn Denise; Mundlos Stefan; Ullmann Reinhard
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
European journal of pediatrics 2008;167(8):903-8.
2008: Klopocki E; Ott C-E; Benatar N; Ullmann R; Mundlos S; Lehmann K
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.
Journal of medical genetics 2008;45(6):370-5.
2008: Schell-Apacik Chayim Can; Cohen Monika; Vojta Stepan; Ertl-Wagner Birgit; Klopocki Eva; Heinrich Uwe; von Voss Hubertus
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.
European journal of pediatrics 2008;167(1):123-6.
2007: Uhrig Sabine; Schlembach Dietmar; Waldispuehl-Geigl Julie; Schaffer Werner; Geigl Jochen; Klopocki Eva; Mundlos Stefan; Speicher Michael R
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
American journal of human genetics 2007;81(4):866-8.
2007: Dahl E; Wiesmann F; Woenckhaus M; Stoehr R; Wild P J; Veeck J; Knüchel R; Klopocki E; Sauter G; Simon R; Wieland W F; Walter B; Denzinger S; Hartmann A; Hammerschmied C G
Frequent loss of SFRP1 expression in multiple human solid tumours: association with aberrant promoter methylation in renal cell carcinoma.
Oncogene 2007;26(38):5680-91.
2007: Stumm Markus; Klopocki Eva; Gasiorek-Wiens Adam; Knoll Ute; Wirjadi Deni; Sarioglu Nanette; Wegner Rolf-Dieter; Tönnies Holger
Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis.
Prenatal diagnosis 2007;27(5):475-8.
2007: Meyer Stefan; Fergusson William D; Whetton Anthony D; Moreira-Leite Flavia; Pepper Stuart D; Miller Crispin; Saunders Emma K; White Daniel J; Will Andrew M; Eden Tim; Ikeda Hideyuki; Ullmann Reinhard; Tuerkmen Seval; Gerlach Antje; Klopocki Eva; Tönnies Holger
Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption.
Genes, chromosomes & cancer 2007;46(4):359-72.
2007: Weiss Claudia; Jakubiczka Sibylle; Huebner Angela; Klopocki Eva; Kress Wolfram; Voit Thomas; Hübner Christoph; Schuelke Markus
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.
Muscle & nerve 2007;35(3):396-401.
2007: Klopocki Eva; Schulze Harald; Strauss Gabriele; Ott Claus-Eric; Hall Judith; Trotier Fabienne; Fleischhauer Silke; Greenhalgh Lynn; Newbury-Ecob Ruth A; Neumann Luitgard M; Habenicht Rolf; König Rainer; Seemanova Eva; Megarbane André; Ropers Hans-Hilger; Ullmann Reinhard; Horn Denise; Mundlos Stefan
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
American journal of human genetics 2007;80(2):232-40.
2006: Klopocki Eva; Neumann Luitgard M; Tönnies Holger; Ropers Hans-Hilger; Mundlos Stefan; Ullmann Reinhard
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
European journal of human genetics : EJHG 2006;14(12):1274-9.
2006: Müller D; Klopocki E; Neumann L M; Mundlos S; Taupitz M; Schulze I; Ropers H-H; Querfeld U; Ullmann R
A complex phenotype with cystic renal disease.
Kidney international 2006;70(9):1656-60.
2006: Veeck J; Niederacher D; An H; Klopocki E; Wiesmann F; Betz B; Galm O; Camara O; Dürst M; Kristiansen G; Huszka C; Knüchel R; Dahl E
Aberrant methylation of the Wnt antagonist SFRP1 in breast cancer is associated with unfavourable prognosis.
Oncogene 2006;25(24):3479-88.
2006: Klopocki Eva; Fiebig Britta; Robinson Peter; Tönnies Holger; Erdogan Fikret; Ropers Hans-Hilger; Mundlos Stefan; Ullmann Reinhard
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
American journal of medical genetics. Part A 2006;140(8):873-7.
2005: Dahl Edgar; Sadr-Nabavi Ariane; Klopocki Eva; Betz Beate; Grube Susanne; Kreutzfeld Rene; Himmelfarb Marina; An Han-Xiang; Gelling Stephen; Klaman Irina; Hinzmann Bernd; Kristiansen Glen; Grützmann Robert; Kuner Ruprecht; Petschke Beate; Rhiem Kerstin; Wiechen Kai; Sers Christine; Wiestler Otmar; Schneider Achim; Höfler Heinz; Nährig Jörg; Dietel Manfred; Schäfer Reinhold; Rosenthal André; Schmutzler Rita; Dürst Matthias; Meindl Alfons; Niederacher Dieter
Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancer.
The Journal of pathology 2005;205(1):21-8.
2005: Dahl E; Veeck J; An H; Wiesmann F; Klopocki E; Sauter G; Kristiansen G; Hartmann A; Knüchel R
[Epigenetic inactivation of the WNT antagonist SFRP1 in breast cancer]
Verhandlungen der Deutschen Gesellschaft für Pathologie 2005;89():169-77.
2004: Oberschmid Barbara I; Dietmaier Wolfgang; Hartmann Arndt; Dahl Edgar; Klopocki Eva; Beatty Barbara G; Hyman Neil H; Blaszyk Hagen
Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndrome.
Archives of pathology & laboratory medicine 2004;128(9):967-73.
2004: Klopocki Eva; Kristiansen Glen; Wild Peter J; Klaman Irina; Castanos-Velez Esmeralda; Singer Gad; Stöhr Robert; Simon Ronald; Sauter Guido; Leibiger Haike; Essers Lutz; Weber Birgit; Hermann Klaus; Rosenthal André; Hartmann Arndt; Dahl Edgar
Loss of SFRP1 is associated with breast cancer progression and poor prognosis in early stage tumors.
International journal of oncology 2004;25(3):641-9.
2004: Stoehr Robert; Wissmann Christoph; Suzuki Hiromu; Knuechel Ruth; Krieg Rene C; Klopocki Eva; Dahl Edgar; Wild Peter; Blaszyk Hagen; Sauter Guido; Simon Ronald; Schmitt Ruediger; Zaak Dirk; Hofstaedter Ferdinand; Rosenthal Andre; Baylin Stephen B; Pilarsky Christian; Hartmann Arndt
Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer.
Laboratory investigation; a journal of technical methods and pathology 2004;84(4):465-78.
2004: Himmelfarb Marina; Klopocki Eva; Grube Susanne; Staub Eike; Klaman Irina; Hinzmann Bernd; Kristiansen Glen; Rosenthal André; Dürst Matthias; Dahl Edgar
ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancer.
Cancer letters 2004;204(1):69-77.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

Eva Klopocki

Research Profile (preview)

Procedures

Disorders

Physiology

Chemicals & Drugs

Phenomena

Anatomy

Living Beings

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of Eva Klopocki (preview)

All Publications