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Klaus Zerres

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.

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Krug Axel; Markov Valentin; Sheldrick Abigail; Krach Sören; Jansen Andreas; Zerres Klaus; Eggermann Thomas; Stöcker Tony; Shah N Jon; Kircher Tilo
The effect of the COMT val(158)met polymorphism on neural correlates of semantic verbal fluency.
Elbracht Miriam; Roos Andreas; Schönherr Nadine; Busse Sabine; Damen Reinhild; Zerres Klaus; Rudnik-Schöneborn Sabine; Schüler Herdit Monika
Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.
Markov V; Krug A; Krach S; Whitney C; Eggermann T; Zerres K; Stöcker T; Shah N J; Nöthen M M; Treutlein J; Rietschel M; Kircher T
Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals.

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All Publications

2009: Krug Axel; Markov Valentin; Sheldrick Abigail; Krach Sören; Jansen Andreas; Zerres Klaus; Eggermann Thomas; Stöcker Tony; Shah N Jon; Kircher Tilo
The effect of the COMT val(158)met polymorphism on neural correlates of semantic verbal fluency.
European archives of psychiatry and clinical neuroscience 2009;259(8):459-65.
2009: Elbracht Miriam; Roos Andreas; Schönherr Nadine; Busse Sabine; Damen Reinhild; Zerres Klaus; Rudnik-Schöneborn Sabine; Schüler Herdit Monika
Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.
American journal of medical genetics. Part A 2009;149A(11):2547-50.
2009: Markov V; Krug A; Krach S; Whitney C; Eggermann T; Zerres K; Stöcker T; Shah N J; Nöthen M M; Treutlein J; Rietschel M; Kircher T
Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals.
NeuroImage 2009;47(4):2016-22.
2009: Kircher Tilo; Krug Axel; Markov Valentin; Whitney Carin; Krach Sören; Zerres Klaus; Eggermann Thomas; Stöcker Tony; Shah Nadim Jon; Treutlein Jens; Nöthen Markus M; Becker Tim; Rietschel Marcella
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.
Human brain mapping 2009;30(10):3406-16.
2009: Kircher T; Markov V; Krug A; Eggermann T; Zerres K; Nöthen M M; Skowronek M H; Rietschel M
Association of the DTNBP1 genotype with cognition and personality traits in healthy subjects.
Psychological medicine 2009;39(10):1657-65.
2009: Rudnik-Schöneborn S; Berg C; Zerres K; Betzler C; Grimm T; Eggermann T; Eggermann K; Wirth R; Wirth B; Heller R
Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.
Clinical genetics 2009;76(2):168-78.
2009: Schmitz Fabian; Ewering Silke; Zerres Klaus; Klomfass Sebastian; Hoffmann Rainer; Ortlepp Jan R
Parathyroid hormone gene variant and calcific aortic stenosis.
The Journal of heart valve disease 2009;18(3):262-7.
2009: Senderek Jan; Garvey Sean M; Krieger Michael; Guergueltcheva Velina; Urtizberea Andoni; Roos Andreas; Elbracht Miriam; Stendel Claudia; Tournev Ivailo; Mihailova Violeta; Feit Howard; Tramonte Jeff; Hedera Peter; Crooks Kristy; Bergmann Carsten; Rudnik-Schöneborn Sabine; Zerres Klaus; Lochmüller Hanns; Seboun Eric; Weis Joachim; Beckmann Jacques S; Hauser Michael A; Jackson Charles E
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
American journal of human genetics 2009;84(4):511-8.
2009: Jansen Andreas; Krach Sören; Krug Axel; Markov Valentin; Eggermann Thomas; Zerres Klaus; Stöcker Tony; Shah N Jon; Nöthen Markus M; Treutlein Jens; Rietschel Marcella; Kircher Tilo
A putative high risk diplotype of the G72 gene is in healthy individuals associated with better performance in working memory functions and altered brain activity in the medial temporal lobe.
NeuroImage 2009;45(3):1002-8.
2009: Muetze Sabine; Eggermann Thomas; Leeners Brigitte; Birke Cornelia; Kuse Sabine; Ortlepp Jan Rudolf; Rudnik-Schoeneborn Sabine; Zerres Klaus; Rath Werner
The 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene is not associated with HELLP syndrome.
Journal of thrombosis and thrombolysis 2009;27(2):141-5.
2009: Gülden Norbert; Eggermann Thomas; Zerres Klaus; Beer Michael; Meinelt Anica; Diedrich Peter
Interleukin-1 polymorphisms in relation to external apical root resorption (EARR).
Journal of orofacial orthopedics = Fortschritte der Kieferorthopädie : Organ/official journal Deutsche Gesellschaft für Kieferorthopädie 2009;70(1):20-38.
2009: Jansen Andreas; Krach Sören; Krug Axel; Markov Valentin; Eggermann Thomas; Zerres Klaus; Thimm Markus; Nöthen Markus M; Treutlein Jens; Rietschel Marcella; Kircher Tilo
Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects.
BMC psychiatry 2009;9():60.
2008: Rudnik-Schöneborn S; Weis J; Kress W; Häusler M; Zerres K
Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.
Neuromuscular disorders : NMD 2008;18(11):881-5.
2008: Kaindl A M; Guenther U-P; Rudnik-Schöneborn S; Varon R; Zerres K; Gressens P; Schuelke M; Hubner C; von Au K
[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2008;15(10):1568-72.
2008: Rudnik-Schöneborn S; Heller R; Berg C; Betzler C; Grimm T; Eggermann T; Eggermann K; Wirth R; Wirth B; Zerres K
Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
Journal of medical genetics 2008;45(10):635-8.
2008: Krug Axel; Markov Valentin; Eggermann Thomas; Krach Sören; Zerres Klaus; Stöcker Tony; Shah N Jon; Schneider Frank; Nöthen Markus M; Treutlein Jens; Rietschel Marcella; Kircher Tilo
Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with differences in frontal brain activation in a working memory task in healthy individuals.
NeuroImage 2008;42(4):1569-76.
2008: Sheldrick A J; Krug A; Markov V; Leube D; Michel T M; Zerres K; Eggermann T; Kircher T
Effect of COMT val158met genotype on cognition and personality.
European psychiatry : the journal of the Association of European Psychiatrists 2008;23(6):385-9.
2008: Arbeiter Anja; Büscher Rainer; Bonzel Klaus-Eugen; Wingen Anne-Margret; Vester Udo; Wohlschläger Jeremias; Zerres Klaus; Nürnberger Jens; Bergmann Carsten; Hoyer Peter F
Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008;23(9):3026-9.
2008: Rudnik-Schöneborn Sabine; Zerres Klaus; Häusler Martin; Lott Alexandra; Krings Timo; Schüler Herdit M
A new case of proximal monosomy 1p36, extending the phenotype.
American journal of medical genetics. Part A 2008;146A(15):2018-22.
2008: Krug Axel; Markov Valentin; Leube Dirk; Zerres Klaus; Eggermann Thomas; Nöthen Markus M; Skowronek Markus H; Rietschel Marcella; Kircher Tilo
Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with personality traits in healthy individuals.
European psychiatry : the journal of the Association of European Psychiatrists 2008;23(5):344-9.
2008: Bergmann Carsten; Brüchle Nadina Ortiz; Frank Valeska; Rehder Helga; Zerres Klaus
Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.
The New England journal of medicine 2008;359(3):318-9.
2008: Bergmann Carsten; Fliegauf Manfred; Brüchle Nadina Ortiz; Frank Valeska; Olbrich Heike; Kirschner Jan; Schermer Bernhard; Schmedding Ingolf; Kispert Andreas; Kränzlin Bettina; Nürnberg Gudrun; Becker Christian; Grimm Tiemo; Girschick Gundula; Lynch Sally A; Kelehan Peter; Senderek Jan; Neuhaus Thomas J; Stallmach Thomas; Zentgraf Hanswalter; Nürnberg Peter; Gretz Norbert; Lo Cecilia; Lienkamp Soeren; Schäfer Tobias; Walz Gerd; Benzing Thomas; Zerres Klaus; Omran Heymut
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
American journal of human genetics 2008;82(4):959-70.
2008: Brüchle Nadina Ortiz; Frank Jorge; Frank Valeska; Senderek Jan; Akar Ahmet; Koc Erol; Rigopoulos Dimitris; van Steensel Maurice; Zerres Klaus; Bergmann Carsten
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
The Journal of investigative dermatology 2008;128(4):791-6.
2008: Roos A; Eggermann T; Zerres K; Schüler H M
Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q.
American journal of medical genetics. Part A 2008;146A(6):795-8.
2008: Kaindl Angela M; Guenther Ulf-Peter; Rudnik-Schöneborn Sabine; Varon Raymonda; Zerres Klaus; Schuelke Markus; Hübner Christoph; von Au Katja
Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Journal of child neurology 2008;23(2):199-204.
2008: Eggermann Thomas; Eggermann Katja; Elbracht Miriam; Zerres Klaus; Rudnik-Schöneborn Sabine
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.
Neuromuscular disorders : NMD 2008;18(2):146-9.
2008: Frank Valeska; den Hollander Anneke I; Brüchle Nadina Ortiz; Zonneveld Marijke N; Nürnberg Gudrun; Becker Christian; Du Bois Gabriele; Kendziorra Heide; Roosing Susanne; Senderek Jan; Nürnberg Peter; Cremers Frans P M; Zerres Klaus; Bergmann Carsten
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Human mutation 2008;29(1):45-52.
2008: Knyrim Elke; Muetze Sabine; Eggermann Thomas; Rudnik-Schoeneborn Sabine; Lindt Ria; Ortlepp Jan R; Rath Werner; Zerres Klaus
Genetic analysis of the angiotensinogen gene in pre-eclampsia: study of german women and review of the literature.
Gynecologic and obstetric investigation 2008;66(3):203-8.
2008: Wiesmüller Gerhard A; Niggemann Hiltrud; Weissbach Wibke; Riley Felix; Maarouf Zackaria; Dott Wolfgang; Kunert Hanns-Jürgen; Zerres Klaus; Eggermann Thomas; Blömeke Brunhilde
Sequence variations in subjects with self-reported multiple chemical sensitivity (sMCS): a case-control study.
Journal of toxicology and environmental health. Part A 2008;71(11-12):786-94.
2008: Muetze Sabine; Leeners Brigitte; Ortlepp Jan R; Kuse Sabine; Tag Carmen G; Weiskirchen Ralf; Gressner Axel M; Rudnik-Schoeneborn Sabine; Zerres Klaus; Rath Werner
Maternal factor V Leiden mutation is associated with HELLP syndrome in Caucasian women.
Acta obstetricia et gynecologica Scandinavica 2008;87(6):635-42.
2008: Mütze Sabine; Rudnik-Schöneborn Sabine; Zerres Klaus; Rath Werner
Genes and the preeclampsia syndrome.
Journal of perinatal medicine 2008;36(1):38-58.
2007: Stendel Claudia; Roos Andreas; Deconinck Tine; Pereira Jorge; Castagner Francois; Niemann Axel; Kirschner Janbernd; Korinthenberg Rudolf; Ketelsen Uwe-Peter; Battaloglu Esra; Parman Yesim; Nicholson Garth; Ouvrier Robert; Seeger Jürgen; De Jonghe Peter; Weis Joachim; Krüttgen Alexander; Rudnik-Schöneborn Sabine; Bergmann Carsten; Suter Ueli; Zerres Klaus; Timmerman Vincent; Relvas João B; Senderek Jan
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
American journal of human genetics 2007;81(1):158-64.
2007: Bergmann Carsten; Zerres Klaus
Early manifestations of polycystic kidney disease.
Lancet 2007;369(9580):2157.
2007: Elbracht Miriam; Senderek Jan; Eggermann Thomas; Thürmer Christian; Park Jonas; Westhofen Martin; Zerres Klaus
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
Journal of medical genetics 2007;44(6):e81.
2007: Frank Valeska; Ortiz Brüchle Nadina; Mager Silke; Frints Susanna G M; Bohring Axel; du Bois Gabriele; Debatin Irmgard; Seidel Heide; Senderek Jan; Besbas Nesrin; Todt Unda; Kubisch Christian; Grimm Tiemo; Teksen Fulya; Balci Sevim; Zerres Klaus; Bergmann Carsten
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Human mutation 2007;28(6):638-9.
2007: Karges Beate; Bergmann Carsten; Scholl Katrina; Heinze Eberhard; Rasche Franz Maximilian; Zerres Klaus; Debatin Klaus-Michael; Wabitsch Martin; Karges Wolfram
Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations.
Diabetes care 2007;30(6):1613-4.
2007: Rudnik-Schöneborn Sabine; Botzenhart Elke; Eggermann Thomas; Senderek Jan; Schoser Benedikt G H; Schröder Rolf; Wehnert Manfred; Wirth Brunhilde; Zerres Klaus
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
Neurogenetics 2007;8(2):137-42.
2007: Bicanski B; Wenderdel M; Mertens Peter R; Senderek J; Panzer U; Steinmetz O; Stahl R A K; Cerullo G; Diletta Torres D; Schena F P; Zerres K; Floege J
PDGF-B gene single-nucleotide polymorphisms are not predictive for disease onset or progression of IgA nephropathy.
Clinical nephrology 2007;67(2):65-72.
2007: Schmitz F; Mevissen V; Krantz C; Kimmel M; Erdmann J; Hoffmann R; Zerres K; Ortlepp J R
Robust association of the APOE epsilon4 allele with premature myocardial infarction especially in patients without hypercholesterolaemia: the Aachen study.
European journal of clinical investigation 2007;37(2):106-8.
2007: Mütze Sabine; Ahillen Ines; Rudnik-Schoeneborn Sabine; Eggermann Thomas; Leeners Brigitte; Neumaier-Wagner Peruka M; Kuse Sabine; Rath Werner; Zerres Klaus
Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome.
Journal of perinatal medicine 2007;35(1):76-8.
2006: Brauers Eva; Hozyasz Kamil; Golabek Bozena; Slowik Malgorzata; Schmidt Christa; Vester Udo; Zerres Klaus; Eggermann Thomas
Identification of novel cystinuria mutations in pediatric patients.
Journal of pediatric urology 2006;2(6):575-8.
2006: Bisceglia Luigi; Cerullo Giuseppina; Forabosco Paola; Torres Diletta Domenica; Scolari Francesco; Di Perna Michele; Foramitti Marina; Amoroso Antonio; Bertok Sara; Floege Jürgen; Mertens Peter Rene; Zerres Klaus; Alexopoulos Efstathios; Kirmizis Dimitrios; Ermelinda Mazzucco; Zelante Leopoldo; Schena Francesco Paolo;
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci.
American journal of human genetics 2006;79(6):1130-4.
2006: Bergmann C; Senderek J; Anhuf D; Thiel C T; Ekici A B; Poblete-Gutierrez P; van Steensel M; Seelow D; Nürnberg G; Schild H H; Nürnberg P; Reis A; Frank J; Zerres K
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
American journal of human genetics 2006;79(6):1105-9.
2006: Roos A; Rudnik-Schöneborn S; Eggermann K; Eggermann T; Senderek J; Schwanitz G; Zerres K; Schüler H M
Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
European journal of medical genetics 2006;49(6):505-10.
2006: Bosserhoff Anja-Katrin; Grussendorf-Conen Elke-Ingrid; Rübben Albert; Rudnik-Schöneborn Sabine; Zerres Klaus; Buettner Reinhard; Merkelbach-Bruse Sabine
Multiple colon carcinomas in a patient with Cowden syndrome.
International journal of molecular medicine 2006;18(4):643-7.
2006: Kirfel Jutta; Senderek Jan; Moser Markus; Röper Anke; Stendel Claudia; Bergmann Carsten; Zerres Klaus; Buettner Reinhard
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.
Gene expression patterns : GEP 2006;6(8):978-84.
2006: Ortlepp J R; Pillich M; Mevissen V; Krantz C; Kimmel M; Autschbach R; Langebartels G; Erdmann J; Hoffmann R; Zerres K
APOE alleles are not associated with calcific aortic stenosis.
Heart (British Cardiac Society) 2006;92(10):1463-6.
2006: zu Schwabedissen Cordula Meyer; Mevissen Vera; Schmitz Fabian; Woodruff Seth; Langebartels Georg; Rau Thomas; Zerres Klaus; Hoffmann Rainer; Ortlepp Jan R
Obesity is associated with a slower response to initial phenprocoumon therapy whereas CYP2C9 genotypes are not.
European journal of clinical pharmacology 2006;62(9):713-20.
2006: Prelog Martina; Bergmann Carsten; Ausserlechner Michael J; Fischer Helmut; Margreiter Raimund; Gassner Ingmar; Brunner Andrea; Jungraithmayr Therese C; Zerres Klaus; Sergi Consolato; Zimmerhackl Lothar Bernd
Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
Pediatric transplantation 2006;10(3):362-6.
2006: Brauers E; Schmidt C; Zerres K; Eggermann T
Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype.
Clinical nephrology 2006;65(4):262-6.
2006: Schena Francesco Paolo; Cerullo Giuseppina; Torres Diletta Domenica; Scolari Francesco; Foramitti Marina; Amoroso Antonio; Pirulli Doroti; Floege Jürgen; Mertens Peter Rene; Zerres Klaus; Alexopoulos Efstathios; Kirmizis Dimitrios; Zelante Leopoldo; Bisceglia Luigi
Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study.
European journal of human genetics : EJHG 2006;14(4):488-96.
2006: Rudnik-Schöneborn S; Schneider-Gold C; Raabe U; Kress W; Zerres K; Schoser B G H
Outcome and effect of pregnancy in myotonic dystrophy type 2.
Neurology 2006;66(4):579-80.
2006: Eggermann Thomas; Krause-Plonka Ines; Wollmann Hartmut A; Zerres Klaus; Dai Guang; Meyer Esther; Bartsch Oliver
Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.
Clinical dysmorphology 2006;15(1):9-12.
2006: Bergmann Carsten; Frank Valeska; Küpper Fabian; Schmidt Christa; Senderek Jan; Zerres Klaus
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
Journal of human genetics 2006;51(9):788-93.
2006: Bergmann Carsten; Frank Valeska; Küpper Fabian; Kamitz Dirk; Hanten Jens; Berges Peter; Mager Silke; Moser Markus; Kirfel Jutta; Büttner Reinhard; Senderek Jan; Zerres Klaus
Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.
Molecular diagnosis & therapy 2006;10(3):163-74.
2005: Zenker Martin; Mayerle Julia; Lerch Markus M; Tagariello Andreas; Zerres Klaus; Durie Peter R; Beier Matthias; Hülskamp Georg; Guzman Celina; Rehder Helga; Beemer Frits A; Hamel Ben; Vanlieferinghen Philippe; Gershoni-Baruch Ruth; Vieira Marta W; Dumic Miroslav; Auslender Ron; Gil-da-Silva-Lopes Vera L; Steinlicht Simone; Rauh Manfred; Shalev Stavit A; Thiel Christian; Ekici Arif B; Winterpacht Andreas; Kwon Yong Tae; Varshavsky Alexander; Reis André
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nature genetics 2005;37(12):1345-50.
2005: Senderek Jan; Krieger Michael; Stendel Claudia; Bergmann Carsten; Moser Markus; Breitbach-Faller Nico; Rudnik-Schöneborn Sabine; Blaschek Astrid; Wolf Nicole I; Harting Inga; North Kathryn; Smith Janine; Muntoni Francesco; Brockington Martin; Quijano-Roy Susana; Renault Francis; Herrmann Ralf; Hendershot Linda M; Schröder J Michael; Lochmüller Hanns; Topaloglu Haluk; Voit Thomas; Weis Joachim; Ebinger Friedrich; Zerres Klaus
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics 2005;37(12):1312-4.
2005: Ortlepp Jan R; Krantz Constanze; Kimmel Melanie; von Korff Alexei; Vesper Katharina; Schmitz Fabian; Mevissen Vera; Janssens Uwe; Franke Andreas; Hanrath Peter; Zerres Klaus; Hoffmann Rainer
Additive effects of the chemokine receptor 2, vitamin D receptor, interleukin-6 polymorphisms and cardiovascular risk factors on the prevalence of myocardial infarction in patients below 65 years.
International journal of cardiology 2005;105(1):90-5.
2005: Bergmann C; Küpper F; Schmitt C P; Vester U; Neuhaus T J; Senderek J; Zerres K
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
Journal of medical genetics 2005;42(10):e63.
2005: Clemen Christoph S; Fischer Dirk; Roth Udo; Simon Stéphanie; Vicart Patrick; Kato Kanefusa; Kaminska Anna M; Vorgerd Matthias; Goldfarb Lev G; Eymard Bruno; Romero Norma B; Goudeau Bertrand; Eggermann Thomas; Zerres Klaus; Noegel Angelika A; Schröder Rolf
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies.
FEBS letters 2005;579(17):3777-82.
2005: Aretz Stefan; Raff Ruth; Woelfle Joachim; Zerres Klaus; Esser Marianne; Propping Peter; Eggermann Thomas
Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty.
American journal of medical genetics. Part A 2005;135(3):336-8.
2005: Moser Markus; Matthiesen Sonja; Kirfel Jutta; Schorle Hubert; Bergmann Carsten; Senderek Jan; Rudnik-Schöneborn Sabine; Zerres Klaus; Buettner Reinhard
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD).
Hepatology (Baltimore, Md.) 2005;41(5):1113-21.
2005: Eggermann T; Meschede D; Schüler H; Palm S; Gläser D; Horsthemke B; Eggermann K; Haverkamp F; Zerres K
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter.
Clinical genetics 2005;67(5):434-7.
2005: Eggermann Katja; Bergmann Carsten; Heil Inge; Eggermann Thomas; Zerres Klaus; Schüler Herdit M
Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature.
American journal of medical genetics. Part A 2005;134A(2):226-8.
2005: Bergmann Carsten; Küpper Fabian; Dornia Christian; Schneider Frank; Senderek Jan; Zerres Klaus
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
Human mutation 2005;25(3):225-31.
2005: Bergmann Carsten; Senderek Jan; Windelen Ellen; Küpper Fabian; Middeldorf Iris; Schneider Frank; Dornia Christian; Rudnik-Schöneborn Sabine; Konrad Martin; Schmitt Claus P; Seeman Tomas; Neuhaus Thomas J; Vester Udo; Kirfel Jutta; Büttner Reinhard; Zerres Klaus;
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Kidney international 2005;67(3):829-48.
2005: Eggermann Thomas; Zerres Klaus; Anhuf Dirk; Kotzot Dieter; Fauth Christine; Rudnik-Schöneborn Sabine
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
European journal of human genetics : EJHG 2005;13(3):309-13.
2005: Schmidt Christa; Lahme Sven; Zerres Klaus; Eggermann Thomas
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.
Molecular genetics and metabolism 2005;84(2):172-5.
2005: Häusler M; Anhuf D; Schüler H; Ramaekers V T; Thron A; Zerres K; Möller-Hartmann W
White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.
Neuroradiology 2005;47(1):83-6.
2005: Rudnik-Schöneborn Sabine; Anhuf Dirk; Koscielniak Ewa; Zerres Klaus
Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?
Neuromuscular disorders : NMD 2005;15(1):45-7.
2005: Brauers E; Vester U; Zerres K; Eggermann T
Search for mutations in SLC1A5 (19q13) in cystinuria patients.
Journal of inherited metabolic disease 2005;28(6):1169-71.
2005: Eggermann Thomas; Meyer Esther; Ranke Michael B; Holder Martin; Spranger Stefanie; Zerres Klaus; Wollmann Hartmut A
Diagnostic proceeding in Silver-Russell syndrome.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2005;9(4):205-9.
2005: Schena Francesco P; Cerullo Giuseppina; Torres Diletta D; Scolari Francesco; Foramitti Marina; Amoroso Antonio; Pirulli Doroti; Floege Jürgen; Mertens Peter R; Zerres Klaus; Alexopoulos Efstathios; Kirmizis Dimitrios; Zelante Leopoldo; Bisceglia Luigi; Ghiggeri Gian M; Frascà Giovanni M;
The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait.
BMC nephrology 2005;6():14.
2004: Faivre Laurence; Le Merrer Martine; Zerres Klaus; Ben Hariz Mongi; Scheffer Déborah; Young Ian D; Maroteaux Pierre; Munnich Arnold; Cormier-Daire Valérie
Clinical and genetic heterogeneity in Desbuquois dysplasia.
American journal of medical genetics. Part A 2004;128A(1):29-32.
2004: Zerres K; Senderek J; Rudnik-Schöneborn S; Eggermann T; Kunze J; Mononen T; Kääriäinen H; Kirfel J; Moser M; Buettner R; Bergmann C
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
Clinical genetics 2004;66(1):53-7.
2004: Rudnik-Schöneborn S; Stolz P; Varon R; Grohmann K; Schächtele M; Ketelsen U-P; Stavrou D; Kurz H; Hübner C; Zerres K
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Neuropediatrics 2004;35(3):174-82.
2004: Bergmann Carsten; Senderek Jan; Schneider Frank; Dornia Christian; Küpper Fabian; Eggermann Thomas; Rudnik-Schöneborn Sabine; Kirfel Jutta; Moser Markus; Büttner Reinhard; Zerres Klaus
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Human mutation 2004;23(5):487-95.
2004: Bergmann Carsten; Senderek Jan; Küpper Fabian; Schneider Frank; Dornia Christian; Windelen Ellen; Eggermann Thomas; Rudnik-Schöneborn Sabine; Kirfel Jutta; Furu Laszlo; Onuchic Luiz F; Rossetti Sandro; Harris Peter C; Somlo Stefan; Guay-Woodford Lisa; Germino Gregory G; Moser Markus; Büttner Reinhard; Zerres Klaus
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Human mutation 2004;23(5):453-63.
2004: Rudnik-Schöneborn Sabine; Zerres Klaus
Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature.
European journal of obstetrics, gynecology, and reproductive biology 2004;114(1):44-53.
2004: Schmidt Christa; Vester Udo; Hesse Albrecht; Lahme Sven; Lang Florian; Zerres Klaus; Eggermann Thomas;
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Urological research 2004;32(2):75-8.
2004: Haverkamp Fritz; Zerres Klaus; Rietz Christian; Noeker Meinolf; Ruenger Michaela
Risk analyses for the cognitive phenotype in Turner's syndrome: evidence of familial influence as a decisive factor.
Journal of child neurology 2004;19(3):183-90.
2004: Ortlepp Jan R; Schmitz Fabian; Mevissen Vera; Weiss Stefan; Huster Jürgen; Dronskowski Richard; Langebartels Georg; Autschbach Rüdiger; Zerres Klaus; Weber Christian; Hanrath Peter; Hoffmann Rainer
The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with severe calcific aortic stenosis.
European heart journal 2004;25(6):514-22.
2004: Eggermann T; Curtis M; Zerres K; Hughes H E
Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.
Genetic counseling (Geneva, Switzerland) 2004;15(2):183-90.
2003: Grohmann Katja; Varon Raymonda; Stolz Piroschka; Schuelke Markus; Janetzki Catrin; Bertini Enrico; Bushby Kate; Muntoni Francesco; Ouvrier Robert; Van Maldergem Lionel; Goemans Nathalie M L A; Lochmüller Hanns; Eichholz Stephan; Adams Coleen; Bosch Friedrich; Grattan-Smith Padraic; Navarro Carmen; Neitzel Heidemarie; Polster Tilman; Topaloglu Haluk; Steglich Christina; Guenther Ulf P; Zerres Klaus; Rudnik-Schöneborn Sabine; Hübner Christoph
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Annals of neurology 2003;54(6):719-24.
2003: Helmken Claudia; Hofmann Yvonne; Schoenen Frank; Oprea Gabriela; Raschke Heidrun; Rudnik-Schöneborn Sabine; Zerres Klaus; Wirth Brunhilde
Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1.
Human genetics 2003;114(1):11-21.
2003: Schmidt Christa; Vester Udo; Wagner Carsten A; Lahme Sven; Hesse Albrecht; Hoyer Peter; Lang Florian; Zerres Klaus; Eggermann Thomas;
Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
Kidney international 2003;64(5):1564-72.
2003: Hermanns B; Alfer J; Fischedick K; Stojanovic-Dedic A; Rudnik-Schöneborn S; Büttner R; Zerres K
[Pathology and genetic hereditary kidney cysts]
Der Pathologe 2003;24(6):410-20.
2003: Ortlepp J R; Metrikat J; Vesper K; Mevissen V; Schmitz F; Albrecht M; Maya-Pelzer P; Hanrath P; Weber C; Zerres K; Hoffmann R
The interleukin-6 promoter polymorphism is associated with elevated leukocyte, lymphocyte, and monocyte counts and reduced physical fitness in young healthy smokers.
Journal of molecular medicine (Berlin, Germany) 2003;81(9):578-84.
2003: Bergmann Carsten; Zerres Klaus; Peschgens Thomas; Senderek Jan; Hörnchen Helmut; Rudnik-Schöneborn Sabine
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC).
American journal of medical genetics. Part A 2003;121A(2):151-5.
2003: Ortlepp J R; Metrikat J; Mevissen V; Schmitz F; Albrecht M; Maya-Pelzer P; Hanrath P; Zerres K; Hoffmann R
Relation between the angiotensinogen (AGT) M235T gene polymorphism and blood pressure in a large, homogeneous study population.
Journal of human hypertension 2003;17(8):555-9.
2003: Furu Laszlo; Onuchic Luiz F; Gharavi Ali; Hou Xiaoying; Esquivel Ernie L; Nagasawa Yasuyuki; Bergmann Carsten; Senderek Jan; Avner Ellis; Zerres Klaus; Germino Gregory G; Guay-Woodford Lisa M; Somlo Stefan
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
Journal of the American Society of Nephrology : JASN 2003;14(8):2004-14.
2003: Anhuf Dirk; Eggermann Thomas; Rudnik-Schöneborn Sabine; Zerres Klaus
Determination of SMN1 and SMN2 copy number using TaqMan technology.
Human mutation 2003;22(1):74-8.
2003: Bergmann Carsten; Zerres Klaus; Senderek Jan; Rudnik-Schoneborn Sabine; Eggermann Thomas; Häusler Martin; Mull Michael; Ramaekers Vincent T
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
Brain : a journal of neurology 2003;126(Pt 7):1537-44.
2003: Ortlepp Jan R; Vesper Katharina; Mevissen Vera; Schmitz Fabian; Janssens Uwe; Franke Andreas; Hanrath Peter; Weber Christian; Zerres Klaus; Hoffmann Rainer
Chemokine receptor (CCR2) genotype is associated with myocardial infarction and heart failure in patients under 65 years of age.
Journal of molecular medicine (Berlin, Germany) 2003;81(6):363-7.
2003: Zerres Klaus; Rudnik-Schöneborn Sabine; Senderek Jan; Eggermann Thomas; Bergmann Carsten
Autosomal recessive polycystic kidney disease (ARPKD).
Journal of nephrology 2003;16(3):453-8.
2003: Schmidt C; Tomiuk J; Botzenhart E; Vester U; Halber M; Hesse A; Wagner C; Lahme S; Lang F; Zerres K; Eggermann T; Bachmann H; Bökenkamp A; Fischbach M; Fründ S; Pistor K G; Zappel H F;
Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
Clinical nephrology 2003;59(5):353-9.
2003: Hanemann C Oliver; Bergmann Carsten; Senderek Jan; Zerres Klaus; Sperfeld Ann-Dorte
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
Archives of neurology 2003;60(4):605-9.
2003: Rudnik-Schöneborn S; Goebel H H; Schlote W; Molaian S; Omran H; Ketelsen U; Korinthenberg R; Wenzel D; Lauffer H; Kreiss-Nachtsheim M; Wirth B; Zerres K
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.
Neurology 2003;60(6):983-7.
2003: Schröder Rolf; Goudeau Bertrand; Simon Monique Casteras; Fischer Dirk; Eggermann Thomas; Clemen Christoph S; Li Zhenlin; Reimann Jens; Xue Zhigang; Rudnik-Schöneborn Sabine; Zerres Klaus; van der Ven Peter F M; Fürst Dieter O; Kunz Wolfram S; Vicart Patrick
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
Human molecular genetics 2003;12(6):657-69.
2003: Senderek Jan; Bergmann Carsten; Ramaekers Vincent T; Nelis Eva; Bernert Günther; Makowski Astrid; Züchner Stephan; De Jonghe Peter; Rudnik-Schöneborn Sabine; Zerres Klaus; Schröder J Michael
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Brain : a journal of neurology 2003;126(Pt 3):642-9.
2003: Ortlepp J R; von Korff A; Hanrath P; Zerres K; Hoffmann R
Vitamin D receptor gene polymorphism BsmI is not associated with the prevalence and severity of CAD in a large-scale angiographic cohort of 3441 patients.
European journal of clinical investigation 2003;33(2):106-9.
2003: Zerres Klaus; Rudnik-Schöneborn Sabine
93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands).
Neuromuscular disorders : NMD 2003;13(2):179-83.
2003: Fischer Dirk; Schroers Anja; Blümcke Ingmar; Urbach Horst; Zerres Klaus; Mortier Wilhelm; Vorgerd Matthias; Schröder Rolf
Consequences of a novel caveolin-3 mutation in a large German family.
Annals of neurology 2003;53(2):233-41.
2003: Senderek Jan; Bergmann Carsten; Weber Susanne; Ketelsen Uwe-Peter; Schorle Hubert; Rudnik-Schöneborn Sabine; Büttner Reinhard; Buchheim Eckhard; Zerres Klaus
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Human molecular genetics 2003;12(3):349-56.
2003: Rudnik-Schöneborn Sabine; Sztriha László; Aithala Gururaj R; Houge Gunnar; Laegreid Liv M; Seeger Jürgen; Huppke Michael; Wirth Brunhilde; Zerres Klaus
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.
American journal of medical genetics. Part A 2003;117A(1):10-7.
2003: Bergmann Carsten; Senderek Jan; Sedlacek Beate; Pegiazoglou Ioannis; Puglia Patricia; Eggermann Thomas; Rudnik-Schöneborn Sabine; Furu Laszlo; Onuchic Luiz F; De Baca Monica; Germino Gregory G; Guay-Woodford Lisa; Somlo Stefan; Moser Markus; Büttner Reinhard; Zerres Klaus
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Journal of the American Society of Nephrology : JASN 2003;14(1):76-89.
2003: Haverkamp Fritz; Keuker Tanja; Woelfle Joachim; Kaiser Gundi; Zerres Klaus; Rietz Christian; Ruenger Michaela
Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome.
European journal of pediatrics 2003;162(1):30-5.
2003: Eggermann Thomas; Zerres Klaus
Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2003;7(2):113-7.
2002: Botzenhart Elke; Vester Udo; Schmidt Christa; Hesse Albrecht; Halber Marc; Wagner Carsten; Lang Florian; Hoyer Peter; Zerres Klaus; Eggermann Thomas;
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
Kidney international 2002;62(4):1136-42.
2002: Felderhoff-Mueser Ursula; Grohmann Katja; Harder Anja; Stadelmann Christine; Zerres Klaus; Bührer Christoph; Obladen Michael
Severe spinal muscular atrophy variant associated with congenital bone fractures.
Journal of child neurology 2002;17(9):718-21.
2002: Bergmann C; Zerres K; Rudnik-Schöneborn S; Eggermann T; Schröder J M; Senderek J
Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).
Journal of medical genetics 2002;39(9):e58.
2002: Nagasawa Yasuyuki; Matthiesen Sonja; Onuchic Luiz F; Hou Xiaoying; Bergmann Carsten; Esquivel Ernie; Senderek Jan; Ren Zhiyong; Zeltner Raoul; Furu Laszlo; Avner Ellis; Moser Markus; Somlo Stefan; Guay-Woodford Lisa; Büttner Reinhard; Zerres Klaus; Germino Gregory G
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.
Journal of the American Society of Nephrology : JASN 2002;13(9):2246-58.
2002: Poblete Gutiérrez Pamela; Eggermann Thomas; Höller Daniela; Jugert Frank K; Beermann Torsten; Grussendorf-Conen Elke-Ingrid; Zerres Klaus; Merk Hans F; Frank Jorge
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.
The Journal of investigative dermatology 2002;119(2):527-31.
2002: Onuchic Luiz F; Mrug Michal; Hou Xiaoying; Eggermann Thomas; Bergmann Carsten; Zerres Klaus; Avner Ellis D; Furu Laszlo; Somlo Stefan; Nagasawa Yasuyuki; Germino Gregory G; Guay-Woodford Lisa M
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.
American journal of medical genetics 2002;110(4):346-52.
2002: Eggermann Thomas; Zerres Klaus; Eggermann Katja; Moore Gudrun; Wollmann Hartmut A
Uniparental disomy: clinical indications for testing in growth retardation.
European journal of pediatrics 2002;161(6):305-12.
2002: Schmidt C; Albers A; Tomiuk J; Eggermann K; Wagner C; Capasso G; Lahme S; Hesse A; Lang F; Zerres K; Eggermann T
Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.
Clinical nephrology 2002;57(5):342-8.
2002: Neumann Hartmut P H; Bausch Birke; McWhinney Sarah R; Bender Bernhard U; Gimm Oliver; Franke Gerlind; Schipper Joerg; Klisch Joachim; Altehoefer Carsten; Zerres Klaus; Januszewicz Andrzej; Eng Charis; Smith Wendy M; Munk Robin; Manz Tanja; Glaesker Sven; Apel Thomas W; Treier Markus; Reineke Martin; Walz Martin K; Hoang-Vu Cuong; Brauckhoff Michael; Klein-Franke Andreas; Klose Peter; Schmidt Heinrich; Maier-Woelfle Margarete; Peçzkowska Mariola; Szmigielski Cesary; Eng Charis;
Germ-line mutations in nonsyndromic pheochromocytoma.
The New England journal of medicine 2002;346(19):1459-66.
2002: Rossetti Sandro; Burton Sarah; Strmecki Lana; Pond Gregory R; San Millán Jose L; Zerres Klaus; Barratt T Martin; Ozen Seza; Torres Vicente E; Bergstralh Erik J; Winearls Christopher G; Harris Peter C
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.
Journal of the American Society of Nephrology : JASN 2002;13(5):1230-7.
2002: Onuchic Luiz F; Furu Laszlo; Nagasawa Yasuyuki; Hou Xiaoying; Eggermann Thomas; Ren Zhiyong; Bergmann Carsten; Senderek Jan; Esquivel Ernie; Zeltner Raoul; Rudnik-Schöneborn Sabine; Mrug Michael; Sweeney William; Avner Ellis D; Zerres Klaus; Guay-Woodford Lisa M; Somlo Stefan; Germino Gregory G
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
American journal of human genetics 2002;70(5):1305-17.
2002: Rudnik-Schöneborn Sabine; Breuer Christian; Zerres Klaus
Stable motor and lung function throughout pregnancy in a patient with infantile spinal muscular atrophy type II.
Neuromuscular disorders : NMD 2002;12(2):137-40.
2002: Borkowska Janina; Rudnik-Schoneborn Sabine; Hausmanowa-Petrusewicz Irena; Zerres Klaus
Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival.
Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences 2002;40(1):19-26.
2001: Zerres K; Eggermann T; Rudnik-Schöneborn S
DNA diagnosis in hereditary nephropathies.
Clinical nephrology 2001;56(3):181-92.
2001: Grohmann K; Schuelke M; Diers A; Hoffmann K; Lucke B; Adams C; Bertini E; Leonhardt-Horti H; Muntoni F; Ouvrier R; Pfeufer A; Rossi R; Van Maldergem L; Wilmshurst J M; Wienker T F; Sendtner M; Rudnik-Schöneborn S; Zerres K; Hübner C
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Nature genetics 2001;29(1):75-7.
2001: Ramaekers V T; Senderek J; Häusler M; Häring M; Abeling N; Zerres K; Bergmann C; Heimann G; Blau N
A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.
Molecular genetics and metabolism 2001;73(2):179-87.
2001: Albrecht B; Mergenthaler S; Eggermann K; Zerres K; Passarge E; Eggermann T
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).
Journal of medical genetics 2001;38(3):214.
2001: Bergmann C; Schröder J M; Rudnik-Schöneborn S; Zerres K; Senderek J
A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.
Brain research. Molecular brain research 2001;88(1-2):183-5.
2001: Eggermann T; Marg W; Mergenthaler S; Eggermann K; Schemmel V; Stoffers U; Zerres K; Spranger S
Origin of uniparental disomy 6: presentation of a new case and review on the literature.
Annales de génétique 2001;44(1):41-5.
2001: Albers A; Wagner C A; Schmidt C; Lahme S; Bichler K H; Lang F; Zerres K; Eggermann T
[Molecular biology of cystinuria]
Fortschritte der Medizin. Originalien 2001;119(1):49-50.
2001: Rudnik-Schöneborn S; Hausmanowa-Petrusewicz I; Borkowska J; Zerres K
The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.
European neurology 2001;45(3):174-81.
2000: Helmken C; Wetter A; Rudnik-Schöneborn S; Liehr T; Zerres K; Wirth B
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).
European journal of human genetics : EJHG 2000;8(7):493-9.
2000: Hofmann Y; Becker J; Wright F; Avner E D; Mrug M; Guay-Woodford L M; Somlo S; Zerres K; Germino G G; Onuchic L F
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease.
European journal of human genetics : EJHG 2000;8(3):163-6.
2000: Propping P; Friedl W; Wienker T F; Uhlhaas S; Zerres K
ADULT syndrome allelic to limb mammary syndrome (LMS)?
American journal of medical genetics 2000;90(2):179-82.
2000: Hallermann C; Mücher G; Kohlschmidt N; Wellek B; Schumacher R; Bahlmann F; Shahidi-Asl P; Theile U; Rudnik-Schöneborn S; Müntefering H; Zerres K
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.
American journal of medical genetics 2000;90(2):115-9.
1999: Haverkamp F; Wölfle J; Zerres K; Butenandt O; Amendt P; Hauffa B P; Weimann E; Bettendorf M; Keller E; Mühlenberg R; Partsch C J; Sippell W G; Hoppe C
Growth retardation in Turner syndrome: aneuploidy, rather than specific gene loss, may explain growth failure.
The Journal of clinical endocrinology and metabolism 1999;84(12):4578-82.
1999: Onuchic L F; Mrug M; Lakings A L; Muecher G; Becker J; Zerres K; Avner E D; Dixit M; Somlo S; Germino G G; Guay-Woodford L M
Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(12):1175-8.
1999: Grohmann K; Wienker T F; Saar K; Rudnik-Schöneborn S; Stoltenburg-Didinger G; Rossi R; Novelli G; Nürnberg G; Pfeufer A; Wirth B; Reis A; Zerres K; Hübner C
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.
American journal of human genetics 1999;65(5):1459-62.
1999: Zerres K; Davies K E
59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands.
Neuromuscular disorders : NMD 1999;9(4):272-8.
1999: Haverkamp F; Wölfle J; Aretz M; Krämer A; Höhmann B; Fahnenstich H; Zerres K
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling.
European journal of pediatrics 1999;158(6):474-8.
1999: Zerres K; Rudnik-Schöneborn S
[Genetically-induced kidney diseases]
Der Internist 1999;40(5):534-42.
1999: Wirth B; Herz M; Wetter A; Moskau S; Hahnen E; Rudnik-Schöneborn S; Wienker T; Zerres K
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
American journal of human genetics 1999;64(5):1340-56.
1999: Neumann H P; Krumme B; van Velthoven V; Orszagh M; Zerres K
Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1999;14(4):936-9.
1999: Park J H; Dixit M P; Onuchic L F; Wu G; Goncharuk A N; Kneitz S; Santarina L B; Hayashi T; Avner E D; Guay-Woodford L; Zerres K; Germino G G; Somlo S
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.
Genomics 1999;57(2):249-55.
1999: Albers A; Lahme S; Wagner C; Kaiser P; Zerres K; Capasso G; Pica A; Palacin M; Lang F; Bichler K H; Eggermann T
Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.
Genetic testing 1999;3(2):227-31.
1998: Rudnik-Schöneborn S; Nicholson G A; Morgan G; Röhrig D; Zerres K
Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus.
American journal of medical genetics 1998;80(4):314-21.
1998: John U; Rudnik-Schöneborn S; Zerres K; Misselwitz J
Kidney growth and renal function in unilateral multicystic dysplastic kidney disease.
Pediatric nephrology (Berlin, Germany) 1998;12(7):567-71.
1998: Scharf J M; Endrizzi M G; Wetter A; Huang S; Thompson T G; Zerres K; Dietrich W F; Wirth B; Kunkel L M
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
Nature genetics 1998;20(1):83-6.
1998: Rudnik-Schöneborn S; John U; Deget F; Ehrich J H; Misselwitz J; Zerres K
Clinical features of unilateral multicystic renal dysplasia in children.
European journal of pediatrics 1998;157(8):666-72.
1998: Omran H; Ketelsen U P; Heinen F; Sauer M; Rudnik-Schöneborn S; Wirth B; Zerres K; Kratzer W; Korinthenberg R
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy.
Journal of child neurology 1998;13(7):327-31.
1998: Zerres K; Rudnik-Schöneborn S; Steinkamm C; Becker J; Mücher G
Autosomal recessive polycystic kidney disease.
Journal of molecular medicine (Berlin, Germany) 1998;76(5):303-9.
1998: Zerres K; Mücher G; Becker J; Steinkamm C; Rudnik-Schöneborn S; Heikkilä P; Rapola J; Salonen R; Germino G G; Onuchic L; Somlo S; Avner E D; Harman L A; Stockwin J M; Guay-Woodford L M
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
American journal of medical genetics 1998;76(2):137-44.
1998: Mücher G; Becker J; Knapp M; Büttner R; Moser M; Rudnik-Schöneborn S; Somlo S; Germino G; Onuchic L; Avner E; Guay-Woodford L; Zerres K
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.
Genomics 1998;48(1):40-5.
1998: Rudnik-Schöneborn S; Röhrig D; Zerres K
Increased risk for abnormal placentation in women affected by myotonic dystrophy.
Journal of perinatal medicine 1998;26(3):192-5.
1998: Rudnik-Schöneborn S; Lützenrath S; Borkowska J; Karwanska A; Hausmanowa-Petrusewicz I; Zerres K
Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity.
European neurology 1998;39(3):154-62.
1997: Wirth B; Schmidt T; Hahnen E; Rudnik-Schöneborn S; Krawczak M; Müller-Myhsok B; Schönling J; Zerres K
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
American journal of human genetics 1997;61(5):1102-11.
1997: Wirth B; Tessarolo D; Hahnen E; Rudnik-Schöneborn S; Raschke H; Liguori M; Giacanelli M; Zerres K
Different entities of proximal spinal muscular atrophy within one family.
Human genetics 1997;100(5-6):676-80.
1997: Korinthenberg R; Sauer M; Ketelsen U P; Hanemann C O; Stoll G; Graf M; Baborie A; Volk B; Wirth B; Rudnik-Schöneborn S; Zerres K
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.
Annals of neurology 1997;42(3):364-8.
1997: Moser M; Pscherer A; Roth C; Becker J; Mücher G; Zerres K; Dixkens C; Weis J; Guay-Woodford L; Buettner R; Fässler R
Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta.
Genes & development 1997;11(15):1938-48.
1997: Rudnik-Schöneborn S; Glauner B; Röhrig D; Zerres K
Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies.
Archives of neurology 1997;54(7):888-94.
1997: Peral B; Gamble V; Strong C; Ong A C; Sloane-Stanley J; Zerres K; Winearls C G; Harris P C
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
American journal of human genetics 1997;60(6):1399-410.
1997: Zerres K; Wirth B; Rudnik-Schöneborn S
Spinal muscular atrophy--clinical and genetic correlations.
Neuromuscular disorders : NMD 1997;7(3):202-7.
1997: Lens X M; Onuchic L F; Wu G; Hayashi T; Daoust M; Mochizuki T; Santarina L B; Stockwin J M; Mücher G; Becker J; Sweeny W E; Avner E D; Guay-Woodford L; Zerres K; Somlo S; Germino G G
An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.
Genomics 1997;41(3):463-6.
1997: Hahnen E; Schönling J; Rudnik-Schöneborn S; Raschke H; Zerres K; Wirth B
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
Human molecular genetics 1997;6(5):821-5.
1997: Zerres K; Rudnik-Schöneborn S; Forrest E; Lusakowska A; Borkowska J; Hausmanowa-Petrusewicz I
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients.
Journal of the neurological sciences 1997;146(1):67-72.
1997: Zerres K; Becker J; Mücher G; Rudnik-Schöneborn S
Autosomal recessive polycystic kidney disease.
Contributions to nephrology 1997;122():10-6.
1996: Rudnik-Schöneborn S; Zerres K; Hahnen E; Meng G; Voit T; Hanefeld F; Wirth B
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
American journal of human genetics 1996;59(5):1163-5.
1996: Hahnen E; Schönling J; Rudnik-Schöneborn S; Zerres K; Wirth B
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.
American journal of human genetics 1996;59(5):1057-65.
1996: Dewald G; Schildhaus H U; Mücher G; Zerres K
A HhaI polymorphism in the human MEP1A gene encoding the alpha subunit of the metalloendopeptidase meprin.
Human heredity 1996;46(5):298-300.
1996: Haverkamp F; Krämer A; Fahnenstich H; Zerres K
[X-chromosomal recessive hydrocephalus internus: a separate disease picture? 2 further case reports and review of the literature]
Klinische Pädiatrie 1996;208(3):93-6.
1996: Zerres K; Rudnik-Schöneborn S; Deget F; Holtkamp U; Brodehl J; Geisert J; Schärer K
Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie.
Acta paediatrica (Oslo, Norway : 1992) 1996;85(4):437-45.
1996: Haverkamp F; Jacobs D; Cantz M; Hansmann M; Fahnenstich H; Zerres K
Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning.
Fetal diagnosis and therapy 1996;11(2):114-9.
1996: Rudnik-Schöneborn S; Forkert R; Hahnen E; Wirth B; Zerres K
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.
Neuropediatrics 1996;27(1):8-15.
1996: Haverkamp F; Emons D; Straehler-Pohl H J; Zerres K
Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction.
International journal of pediatric otorhinolaryngology 1996;34(1-2):159-64.
1996: Rudnik-Schöneborn S; Schüler H M; Schwanitz G; Hansmann M; Zerres K
Further arguments for non-fortuitous association of Potter sequence with XYY males.
Annales de génétique 1996;39(1):43-6.
1996: Zerres K; Rudnik-Schöneborn S; Steinkamm C; Mücher G
Autosomal recessive polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1996;11 Suppl 6():29-33.
1996: Zerres K; Rudnik-Schöneborn S; Mücher G
Autosomal recessive polycystic kidney disease: clinical features and genetics.
Advances in nephrology from the Necker Hospital 1996;25():147-57.
1995: Onuchic L F; Schrick J J; Ma J; Hudson T; Guay-Woodford L M; Zerres K; Woychik R P; Reeders S T
Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(11):805-8.
1995: Jiang W; Dewald G; Brundage E; Mücher G; Schildhaus H U; Zerres K; Bond J S
Fine mapping of MEP1A, the gene encoding the alpha subunit of the metalloendopeptidase meprin, to human chromosome 6P21.
Biochemical and biophysical research communications 1995;216(2):630-5.
1995: Hahnen E; Forkert R; Marke C; Rudnik-Schöneborn S; Schönling J; Zerres K; Wirth B
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
Human molecular genetics 1995;4(10):1927-33.
1995: Zerres K; Rudnik-Schöneborn S; Forkert R; Wirth B
Genetic basis of adult-onset spinal muscular atrophy.
Lancet 1995;346(8983):1162.
1995: Wirth B; Hahnen E; Morgan K; DiDonato C J; Dadze A; Rudnik-Schöneborn S; Simard L R; Zerres K; Burghes A H
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
Human molecular genetics 1995;4(8):1273-84.
1995: Zerres K; Rudnik-Schöneborn S
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.
Archives of neurology 1995;52(5):518-23.
1995: Wirth B; Rudnik-Schöneborn S; Hahnen E; Röhrig D; Zerres K
Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.
Prenatal diagnosis 1995;15(5):407-17.
1995: Deget F; Rudnik-Schöneborn S; Zerres K
Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.
Clinical genetics 1995;47(5):248-53.
1995: Zerres K; Mücher G; Rudnik-Schöneborn S; Smith P; Lunt P; Charles A; Porter H
Early morphological evidence of autosomal recessive polycystic kidney disease.
Lancet 1995;345(8955):987.
1995: Gillessen-Kaesbach G; Meinecke P; Ausems M G; Nöthen M; Albrecht B; Beemer F A; Zerres K
Desbuquois syndrome: three further cases and review of the literature.
Clinical dysmorphology 1995;4(2):136-44.
1995: Haverkamp F; Zerres K; Ostertun B; Emons D; Lentze M J
Familial schizencephaly: further delineation of a rare disorder.
Journal of medical genetics 1995;32(3):242-4.
1995: Rudnik-Schöneborn S; Wirth B; Röhrig D; Saule H; Zerres K
Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration.
Neuromuscular disorders : NMD 1995;5(1):19-23.
1995: Wirth B; el-Agwany A; Baasner A; Burghes A; Koch A; Dadze A; Piechaczeck-Wappenschmidt B; Rudnik-Schöneborn S; Zerres K; Schönling J
Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.
European journal of human genetics : EJHG 1995;3(1):56-60.
1994: DiDonato C J; Morgan K; Carpten J D; Fuerst P; Ingraham S E; Prescott G; McPherson J D; Wirth B; Zerres K; Hurko O
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.
American journal of human genetics 1994;55(6):1218-29.
1994: Rudnik-Schöneborn S; Wirth B; Zerres K
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
American journal of human genetics 1994;55(1):112-9.
1994: Zerres K; Mücher G; Bachner L; Deschennes G; Eggermann T; Kääriäinen H; Knapp M; Lennert T; Misselwitz J; von Mühlendahl K E
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.
Nature genetics 1994;7(3):429-32.
1994: Rudnik-Schöneborn S; Zerres K
A further patient with Pai syndrome with autosomal dominant inheritance?
Journal of medical genetics 1994;31(6):497-8.
1994: Zerres K; Mücher G; Rudnik-Schöneborn S
Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4.
Human genetics 1994;93(6):697-8.
1994: Rudnik-Schöneborn S; Röhrig D; Morgan G; Wirth B; Zerres K
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.
American journal of medical genetics 1994;51(1):70-6.
1993: Oldenburg J; Schwaab R; Grimm T; Zerres K; Hakenberg P; Brackmann H H; Olek K
Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A.
American journal of human genetics 1993;53(6):1229-38.
1993: Zerres K; Rudnik-Schöneborn S; Röhrig D; Wirth B
[Spinal muscular atrophy in childhood. Possibilities and limits of clinical and molecular genetic diagnosis]
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1993;141(11):848-54.
1993: Rudnik-Schöneborn S; Röhrig D; Nicholson G; Zerres K
Pregnancy and delivery in Charcot-Marie-Tooth disease type 1.
Neurology 1993;43(10):2011-6.
1993: Zerres K; Rudnik-Schöneborn S; Deget F
Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie.
Journal of medical genetics 1993;30(7):583-8.
1993: Nöthen M M; Knöpfle G; Födisch H J; Zerres K
Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder.
American journal of medical genetics 1993;46(4):467-70.
1993: Propping P; Zerres K
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.
American journal of medical genetics 1993;45(5):642-8.
1993: Haverkamp F; Zerres K
[Genetic aspects of Crohn disease and ulcerative colitis. Empirical risk of recurrence and case presentation]
Klinische Pädiatrie 1993;205(1):41-4.
1993: Wirth B; Voosen B; Röhrig D; Knapp M; Piechaczek B; Rudnik-Schöneborn S; Zerres K
Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies.
Genomics 1993;15(1):113-8.
1993: Schwanitz G; Schüler H; Gembruch U; Zerres K
Chromosomal findings in fetuses with ultrasonographically diagnosed ventriculomegaly.
Annales de génétique 1993;36(3):150-3.
1992: Zerres K
Autosomal recessive polycystic kidney disease.
The Clinical investigator 1992;70(9):794-801.
1992: Zerres K; Schüler H; Gembruch U; Bald R; Hansmann M; Schwanitz G
Chromosomal findings in fetuses with prenatally diagnosed cysts of the choroid plexus.
Human genetics 1992;89(3):301-4.
1992: Zerres K; Rudnik-Schöneborn S; Deget F
Routine examination of children at risk of autosomal dominant polycystic kidney disease.
Lancet 1992;339(8805):1356-7.
1992: Zerres K; Rietschel M; Rietschel E; Majewski F; Meinecke P
Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?
Journal of medical genetics 1992;29(4):269-71.
1992: Rietschel M; Rudnik-Schöneborn S; Zerres K
Clinical variability of autosomal dominant spinal muscular atrophy.
Journal of the neurological sciences 1992;107(1):65-73.
1992: Rudnik-Schöneborn S; Zerres K; Ignatius J; Rietschel M
Pregnancy and spinal muscular atrophy.
Journal of neurology 1992;239(1):26-30.
1992: Zerres K
Polycystic kidney disease: thoughts on the meaning of prevention.
Contributions to nephrology 1992;97():7-14.
1991: Rabe P; Haverkamp F; Emons D; Rosskamp R; Zerres K; Passarge E
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.
American journal of medical genetics 1991;41(3):350-4.
1991: Rietschel M; Friedl W; Uhlhaas S; Neugebauer M; Heimann D; Zerres K
MASA syndrome: clinical variability and linkage analysis.
American journal of medical genetics 1991;41(1):10-4.
1991: Rudnik-Schöneborn S; Keller B; Beemer F A; Pistor K; Swanenburg de Veye H F; Zerres K
[Johanson-Blizzard syndrome]
Klinische Pädiatrie 1991;203(1):33-8.
1990: Haverkamp F; Zerres K; Fahnenstich H; Köhler W; Kowalewski S
[7-week-old infant with a hydrolethalus syndrome: case report, differential diagnosis and literature review]
Klinische Pädiatrie 1990;202(6):387-90.
1990: Zerres K; Schwanitz G; Niesen M; Gembruch U; Hansmann M; Waldherr R
Prenatal diagnosis of acute non-lymphoblastic leukaemia in Down syndrome.
Lancet 1990;335(8681):117.
1990: Schwanitz G; Zerres K; Schüler H
Homozygosity of a 6/18 translocation in a hydatidiform mole.
Annales de génétique 1990;33(2):117-9.
1989: Schwanitz G; Zerres K; Gembruch U; Bald R; Hansmann M
Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli.
Human genetics 1989;84(1):81-2.
1989: Haverkamp F; Zerres K; Rosskamp R
Three sibs with achalasia and alacrimia: a separate entity different from triple-A syndrome.
American journal of medical genetics 1989;34(2):289-91.
1989: Reiss J; Krawczak M; Gal A; Zerres K; Kaiser R; Weber J
[An at-risk pregnancy of a carrier of cystic fibrosis (mucoviscidosis) with a new partner]
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1989;137(8):451-3.
1989: Gal A; Wirth B; Kääriäinen H; Lucotte G; Landais P; Gillessen-Kaesbach G; Müller-Wiefel D E; Zerres K
Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.
Clinical genetics 1989;35(1):13-9.
1989: Zerres K
Cystic kidneys in children. Cooperative study of the German "Arbeitsgemeinschaft für Pädiatrische Nephrologie".
Progress in clinical and biological research 1989;305():67.
1989: Zerres K; Schwanitz G; Gellissen K; Schroers L; Sohler R
Duplication 7p de novo and literature review.
Annales de génétique 1989;32(4):225-9.
1989: Zerres K
Classification and genetics of proximal spinal muscular atrophies.
Progress in clinical and biological research 1989;306():85-9.
1988: Gembruch U; Hansmann M; Bald R; Zerres K; Schwanitz G; Födisch H J
Prenatal diagnosis and management in fetuses with cystic hygromata colli.
European journal of obstetrics, gynecology, and reproductive biology 1988;29(4):241-55.
1988: Zerres K; Niesen M; Schwanitz G; Hansmann M
[Trisomy 22--prenatal findings in various developmental stages]
Geburtshilfe und Frauenheilkunde 1988;48(10):720-3.
1988: Zerres K; Hansmann M; Mallmann R; Gembruch U
Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis.
Prenatal diagnosis 1988;8(3):215-29.
1988: Schwanitz G; Zerres K; Niesen M; Haverkamp F; Schmid G
Hydrops fetalis as an indication for prenatal chromosome analysis with the example of the diagnosis of a duplication 15q11 and 17q25 due to a familial translocation 15/17.
Annales de génétique 1988;31(3):186-9.
1987: Wirth B; Zerres K; Fischbach M; Claus D; Neumann H P; Lennert T; Brodehl J; Neugebauer M; Müller-Wiefel D E; Geisert J
Autosomal recessive and dominant forms of polycystic kidney disease are not allelic.
Human genetics 1987;77(3):221-2.
1987: Zerres K
Genetics of cystic kidney diseases. Criteria for classification and genetic counselling.
Pediatric nephrology (Berlin, Germany) 1987;1(3):397-404.
1987: Schwanitz G; Zerres K
Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome.
Annales de génétique 1987;30(2):80-4.

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