K. Zerres

K. Zerres, J. Nürnberger, C. Bergmann, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum

K. Zerres, S. Rudnik-Schöneborn, L. Graul-Neumann, 2011, Molecular Syndromology.

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

G. Rasp, T. Stöver, K. Zerres, 2009, Cancer research.

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

J. Jonsson, K. Zerres, L. Weber, 2011, Journal of the American Society of Nephrology : JASN.

Running title: HNF-1, HNF-1, and digenic MODY Received for publication 28 December 2006 and accepted in revised form 19 February 2007.

K. Zerres, C. Bergmann, K. Debatin, 2007 .

Digenic Inheritance of Hepatocyte Nuclear Factor-1α and -1β With Maturity-Onset Diabetes of the Young, Polycystic Thyroid, and Urogenital Malformations Published ahead of print at http://care.diabetesjournals.org on 2 March 2007. DOI: 10.2337/dc06-2618. A table elsewhere in this issue shows conventi

K. Zerres, M. Wabitsch, C. Bergmann, 2007, Diabetes Care.

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

I. Harting, F. Muntoni, K. Zerres, 2005, Nature Genetics.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Hiromi Hirata, K. Zerres, S. Rudnik-Schöneborn, 2016, American journal of human genetics.

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.

K. Zerres, U. Janssens, R. Hoffmann, 2005, International journal of cardiology.

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

K. Zerres, R. Hoffmann, J. Ortlepp, 2003, European journal of clinical investigation.

Pontocerebellar hypoplasia type 1

S. Nelson, W. Reardon, F. Muntoni, 2013, Neurology.

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2003, American journal of medical genetics. Part A.

Apolipoprotein E polymorphism influences the cerebral metabolic pattern in Alzheimer's disease

J. Kessler, W. Heiss, K. Zerres, 1998, Neuroscience Letters.

Robust association of the APOEɛ4 allele with premature myocardial infarction especially in patients without hypercholesterolaemia: the Aachen study

K. Zerres, R. Hoffmann, J. Ortlepp, 2007, European Journal of Clinical Investigation.

Genetic Analysis of the Angiotensinogen Gene in Pre-Eclampsia: Study of German Women and Review of the Literature

K. Zerres, T. Eggermann, J. Ortlepp, 2008, Gynecologic and Obstetric Investigation.

Serotonergic Contributions to Human Brain Aggression Networks

K. Mathiak, R. Weber, K. Zerres, 2019, Front. Neurosci..

Neural networks underlying trait aggression depend on MAOA gene alleles

U. Habel, K. Mathiak, K. Zerres, 2018, Brain Structure and Function.

The effects of a DTNBP1 gene variant on attention networks: an fMRI study

M. Rietschel, M. Nöthen, N. Shah, 2010, Behavioral and Brain Functions.

Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome

K. Zerres, M. Häusler, M. Hengst, 2010, American journal of medical genetics. Part A.

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie.

K. Zerres, S. Rudnik-Schöneborn, F. Deget, 1993, Journal of medical genetics.

Life with too much polyprenol: polyprenol reductase deficiency.

K. Zerres, S. Rudnik-Schöneborn, C. Raetz, 2012, Molecular genetics and metabolism.

The mTOR Pathway Is Activated in Human Autosomal-Recessive Polycystic Kidney Disease

A. Kribben, K. Zerres, K. Schmid, 2010, Kidney and Blood Pressure Research.

Gene (PKD1) by a Novel Approach

K. Zerres, P. Harris, C. Winearls, 2006 .

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

K. Zerres, S. Rudnik-Schöneborn, C. Bergmann, 2005, Hepatology.

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)

K. Zerres, C. Bergmann, J. Senderek, 2005, Human mutation.

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2004, Clinical genetics.

An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.

E. Avner, K. Zerres, G. Germino, 1997, Genomics.

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

A. Anarat, S. Schmidt, S. Testa, 2018, The Journal of pediatrics.

Challenges in establishing genotype–phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations

B. Schermer, T. Benzing, K. Zerres, 2017, Pediatric Nephrology.

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

E. Avner, R. Salonen, P. Heikkilä, 1998, American journal of medical genetics.

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

E. Avner, M. Dixit, K. Zerres, 1999, Mammalian Genome.

Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease

E. Avner, Y. Hofmann, K. Zerres, 2000, European Journal of Human Genetics.

PRENATAL DIAGNOSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH A DNA PROBE

K. Davies, K. Zerres, D. Weatherall, 1986, The Lancet.

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

K. Zerres, T. Eggermann, V. Ramaekers, 2003, Brain : a journal of neurology.

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

K. Zerres, S. Rudnik-Schöneborn, I. Hausmanowa-Petrusewicz, 1998, European Neurology.

A Neuregulin-1 schizophrenia susceptibility variant causes perihippocampal fiber tract anomalies in healthy young subjects

M. Rietschel, M. Nöthen, U. Habel, 2014, Brain and behavior.

Cystinuria: an inborn cause of urolithiasis

K. Zerres, T. Eggermann, A. Venghaus, 2012, Orphanet Journal of Rare Diseases.

Outcome and effect of pregnancy in myotonic dystrophy type 2

K. Zerres, S. Rudnik-Schöneborn, W. Kress, 2006, Neurology.

Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci.

K. Zerres, F. Scolari, A. Amoroso, 2006, American journal of human genetics.

No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.

M. Hristov, K. Zerres, T. Eggermann, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Chemokine receptor (CCR2) genotype is associated with myocardial infarction and heart failure in patients under 65 years of age

C. Weber, K. Zerres, U. Janssens, 2003, Journal of Molecular Medicine.

59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17–19 April 1998, Soestduinen, The Netherlands

K. Davies, K. Zerres, 1999, Neuromuscular Disorders.

Growth retardation in Turner syndrome: aneuploidy, rather than specific gene loss, may explain growth failure.

K. Zerres, W. Sippell, B. Hauffa, 1999, The Journal of clinical endocrinology and metabolism.

SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy

K. Zerres, S. Rudnik-Schöneborn, J. Epplen, 2012, Neuromuscular Disorders.

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9

K. Zerres, T. Eggermann, M. Elbracht, 2007, Clinical genetics.

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

K. Zerres, S. Rudnik-Schöneborn, C. Bergmann, 2003, Human molecular genetics.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies

K. Zerres, T. Eggermann, K. Mrasek, 2013, Archives of Gynecology and Obstetrics.

Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4

K. Zerres, S. Rudnik-Schöneborn, G. Mücher, 1994, Human Genetics.

On genetic heterogeneity, anticipation, and imprinting in polycystic kidney diseases.

K. Zerres, S. Rudnik-Schöneborn, 1995, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity

B. Wirth, K. Zerres, P. Landais, 1989, Clinical genetics.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

R. Finkel, P. Bauer, M. Baudis, 2013, Brain : a journal of neurology.

Statement on the Genetic Diagnosis of Factors that Predispose to Multifactorial Diseases, Developmental Disorders, and Drug Reactions

K. Zerres, C. Bartram, W. Henn, 2004 .

Parathyroid hormone gene variant and calcific aortic stenosis.

K. Zerres, R. Hoffmann, J. Ortlepp, 2009, The Journal of heart valve disease.

Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies

K. Zerres, T. Eggermann, I. Kurth, 2020, Clinical genetics.

Clinical and genetic heterogeneity in Desbuquois dysplasia

A. Munnich, K. Zerres, L. Faivre, 2004, American journal of medical genetics. Part A.

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.

K. Zerres, S. Rudnik-Schöneborn, J. Weis, 2014, Clinical neuropathology.

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, Brain : a journal of neurology.

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, M. Schuelke, 2004, Journal of child neurology.

A Specific Superoxide Dismutase Mutation Is on the Same Genetic Background in Sporadic and Familial Cases of Amyotrophic Lateral Sclerosis

B. Wirth, K. Zerres, T. Voit, 2007 .

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.

A. Jauch, M. Baudis, K. Zerres, 2012, The Journal of pediatrics.

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain

K. Zerres, S. Rudnik-Schöneborn, V. Ramaekers, 2001, Journal of the Neurological Sciences.

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations

B. Sellhaus, K. Claeys, D. Wieczorek, 2016, Muscle & nerve.

Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures

K. Zerres, C. Stadelmann, A. Harder, 2002, Journal of child neurology.

Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature.

K. Zerres, S. Rudnik-Schöneborn, 2004, European journal of obstetrics, gynecology, and reproductive biology.

Mutations in the ganglioside-induced differentiation-associated protein-1 ( GDAP 1 ) gene in intermediate type autosomal recessive Charcot

K. Zerres, V. Ramaekers, C. Bergmann, 2022 .

Search for mutations in SLC1A5 (19q13) in cystinuria patients

K. Zerres, T. Eggermann, U. Vester, 2005, Journal of Inherited Metabolic Disease.

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)

A. Wetter, B. Wirth, K. Zerres, 2000, European Journal of Human Genetics.

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

E. Bertini, T. Huisman, K. Zerres, 2013, The Cerebellum.

The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria

K. Zerres, T. Eggermann, S. Lahme, 2004, Urological Research.

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

K. Zerres, T. Eggermann, C. Wagner, 2002, Kidney international.

Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients.

K. Zerres, S. Rudnik-Schöneborn, Carina Awater, 2012, European journal of obstetrics, gynecology, and reproductive biology.

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1996, American journal of human genetics.

Axonal Neuropathy and Predominance of Type II Myofibers in Infantile Spinal Muscular Atrophy

B. Wirth, H. Omran, F. Heinen, 1998, Journal of child neurology.

Mapping of the Spinal Muscular Atrophy (SMA) Gene to a 750-kb Interval Flanked by Two New Microsatellites

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1995, European journal of human genetics : EJHG.

Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

D. Wieczorek, K. Zerres, S. Rudnik-Schöneborn, 2016, Clinical genetics.

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.

K. Zerres, G. Schwanitz, F. Haverkamp, 1988, Annales de genetique.

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

W. Schlote, B. Wirth, H. Omran, 2003, Neurology.

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

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1995, Neuromuscular Disorders.

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)

K. Zerres, T. Eggermann, B. Albrecht, 2001, Journal of medical genetics.

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

K. Zerres, T. Eggermann, S. Mergenthaler, 2001, Annales de genetique.

Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci

K. Zerres, T. Eggermann, M. Begemann, 2012, Epigenetics.

Genetic Counseling and Prenatal Diagnosis

K. Zerres, T. Grimm, 2010 .

Basics of prenatal diagnostics

K. Zerres, T. Grimm, Köln E. Aichinger, 2008 .

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events

K. Zerres, B. Zoll, H. Brackmann, 1993, Human Genetics.

Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

K. Zerres, T. Eggermann, C. Wagner, 2003, Clinical nephrology.

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2015, European Journal of Human Genetics.

Clinical utility gene card for: proximal spinal muscular atrophy

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2012, European Journal of Human Genetics.

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1997, Human molecular genetics.

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1997, Journal of medical genetics.

Genetic basis of adult-onset spinal muscular atrophy

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1995, The Lancet.

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1995, Prenatal diagnosis.

Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations.

K. Zerres, M. Wabitsch, C. Bergmann, 2007, Diabetes Care.

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

K. Zerres, S. Rudnik-Schöneborn, C. Fusch, 2010, Muscle & nerve.

Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta.

K. Zerres, L. Guay-Woodford, R. Buettner, 1997, Genes & development.

Obesity is associated with a slower response to initial phenprocoumon therapy whereas CYP2C9 genotypes are not

K. Zerres, R. Hoffmann, J. Ortlepp, 2006, European Journal of Clinical Pharmacology.

Stable motor and lung function throughout pregnancy in a patient with infantile spinal muscular atrophy type II

K. Zerres, S. Rudnik-Schöneborn, C. Breuer, 2002, Neuromuscular Disorders.

NLRP genes and their role in preeclampsia and multi-locus imprinting disorders

K. Zerres, T. Eggermann, W. Rath, 2018, Journal of perinatal medicine.

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

C. Fauth, K. Zerres, S. Rudnik-Schöneborn, 2005, European Journal of Human Genetics.

Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1994, American journal of medical genetics.

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

K. Zerres, T. Eggermann, J. Ortlepp, 2009, Journal of Thrombosis and Thrombolysis.

Different entities of proximal spinal muscular atrophy within one family

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1997, Human Genetics.

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

J. McPherson, J. Carpten, B. Wirth, 1994, American journal of human genetics.

Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival.

K. Zerres, I. Hausmanowa-Petrusewicz, J. Borkowska, 2002, Folia neuropathologica.

Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.

K. Zerres, T. Eggermann, H. Merk, 2002, The Journal of investigative dermatology.

Prenatal diagnosis of acute non-lymphoblastic leukaemia in Down syndrome

K. Zerres, R. Waldherr, U. Gembruch, 1990, The Lancet.

Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome

K. Zerres, C. Rietz, J. Woelfle, 2002, European Journal of Pediatrics.

Pregnancy and spinal muscular atrophy

M. Rietschel, K. Zerres, S. Rudnik-Schöneborn, 2004, Journal of Neurology.

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

K. Zerres, S. Rudnik-Schöneborn, I. Hausmanowa-Petrusewicz, 1997, Journal of the Neurological Sciences.

Becker’s muscular dystrophy aggravating facioscapulohumeral muscular dystrophy – double trouble as an explanation for an atypical phenotype

K. Zerres, S. Rudnik-Schöneborn, J. Weis, 2008, Neuromuscular Disorders.

Early manifestations of polycystic kidney disease

K. Zerres, C. Bergmann, 2007, The Lancet.

Multiple colon carcinomas in a patient with Cowden syndrome.

A. Bosserhoff, K. Zerres, S. Rudnik-Schöneborn, 2006, International journal of molecular medicine.

G7 – Hereditäre Nephropathien

K. Zerres, F. Hildebrandt, O. Gross, 2007 .

Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.

J. Winkler, K. Zerres, S. Rudnik-Schöneborn, 2009, Neuropediatrics.

Autosomal recessive polycystic kidney disease (ARPKD).

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2003, Journal of nephrology.

Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease.

K. Zerres, M. Breuning, J. Cobben, 1990, Kidney international.

Genetics in Nephrourology

K. Zerres, S. Rudnik-Schöneborn, 2008 .

Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester

K. Zerres, A. Huch, A. Schinzel, 1995, Prenatal diagnosis.

Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling

K. Zerres, J. Wölfle, H. Fahnenstich, 1999, European Journal of Pediatrics.

Acquired cystic kidney disease —a possible pitfall in genetic counseling

K. Zerres, R. Waldherr, R. Albrecht, 2004, Human Genetics.

Cystic kidneys

K. Zerres, M. Völpel, H. Weiss, 2004, Human Genetics.

Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A.

K. Zerres, J. Oldenburg, R. Schwaab, 1993, American journal of human genetics.

Direct andIndirect Estimation oftheSexRatioofMutation Frequencies inHemophilia A

K. Zerres, J. Oldenburg, R. Schwaab, 1993 .

Medial temporal lobe dysfunction during encoding and retrieval of episodic memory in non-demented APOE ε4 carriers

Gereon R. Fink, Christiane M. Thiel, Klaus Zerres, 2010, Neuroscience.

Effects of a CACNA1C genotype on attention networks in healthy individuals

K Mathiak, T Stöcker, V Markov, 2010, Psychological Medicine.

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

K. Zerres, T. Eggermann, C. Wagner, 2003, Kidney international.

Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.

G. Capasso, K. Zerres, T. Eggermann, 2002, Clinical Nephrology.

Identification of novel cystinuria mutations in pediatric patients.

K. Zerres, T. Eggermann, U. Vester, 2006, Journal of pediatric urology.

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2003, Human mutation.

Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.

G. Capasso, K. Zerres, T. Eggermann, 1999, Genetic testing.

ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.

K. Zerres, P. Propping, 1993, American journal of medical genetics.

PRENATAL DIAGNOSIS OF AN EARLY MANIFESTATION OF AUTOSOMAL DOMINANT ADULT-TYPE POLYCYSTIC KIDNEY DISEASE

K. Zerres, M. Bulla, B. Roth, 1982, The Lancet.

Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3‐qter

K. Zerres, T. Eggermann, B. Horsthemke, 2005, Clinical genetics.

Consequences of a novel caveolin‐3 mutation in a large German family

H. Urbach, I. Blümcke, K. Zerres, 2003, Annals of neurology.

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

K. Zerres, S. Rudnik-Schöneborn, Zhigang Xue, 2003, Human molecular genetics.

Three sibs with achalasia and alacrimia: a separate entity different from triple-A syndrome.

K. Zerres, R. Rosskamp, F. Haverkamp, 1989, American journal of medical genetics.

Cerebral folate deficiency: a neurometabolic syndrome?

K. Zerres, N. Blau, M. Häusler, 2011, Molecular genetics and metabolism.

Prenatal diagnosis and management in fetuses with cystic hygromata colli.

K. Zerres, U. Gembruch, G. Schwanitz, 1988, European journal of obstetrics, gynecology, and reproductive biology.

Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)

K. Zerres, S. Rudnik-Schöneborn, C. Bergmann, 2003, American journal of medical genetics. Part A.

2p21 Deletions in hypotonia-cystinuria syndrome.

M. Baudis, K. Zerres, T. Eggermann, 2012, European journal of medical genetics.

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

Carsten Bergmann, Colin A. Johnson, Klaus Zerres, 2011, American journal of human genetics.

Sequence Variations in Subjects with Self-Reported Multiple Chemical Sensitivity (sMCS): A Case-Control Study

H. Niggemann, K. Zerres, T. Eggermann, 2008, Journal of toxicology and environmental health. Part A.

Cortico‐limbic connectivity in MAOA‐L carriers is vulnerable to acute tryptophan depletion

K. Mathiak, K. Zerres, T. Eggermann, 2017, Human brain mapping.

Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face

K. Zerres, T. Eggermann, H. Wollmann, 2006, Clinical dysmorphology.

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.

E. Avner, Z. Ren, K. Zerres, 2002, American journal of human genetics.

Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.

K. Zerres, C. Eng, C. Jilg, 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Characteristics of Intracranial Aneurysms in the Else Kröner-Fresenius Registry of Autosomal Dominant Polycystic Kidney Disease

E. Schaeffner, I. Mader, K. Zerres, 2012, Cerebrovascular Diseases Extra.

Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes

E. Schaeffner, K. Zerres, C. Jilg, 2012, International Urology and Nephrology.

Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy

K. Zerres, M. Backes, C. Laufersweiler-Plass, 2001, BJU international.

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

B. Wirth, M. Krawczak, B. Müller-Myhsok, 1997, American journal of human genetics.

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

T. Wienker, E. Bertini, A. Pfeufer, 2001, Nature Genetics.

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Carsten Bergmann, Peter Nürnberg, Bernhard Schermer, 2008, American journal of human genetics.

Digenic inheritance of HNF-1(cid:31)  and HNF-1(cid:31)  with MODY, polycystic thyroid and urogenital malformations

K. Zerres, C. Bergmann, K. Debatin, 2007 .

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

K. Zerres, T. Eggermann, M. Elbracht, 2017, The Journal of pediatrics.

Twenty‐one years to the right diagnosis – clinical overlap of Simpson–Golabi–Behmel and Beckwith–Wiedemann syndrome

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2015, American journal of medical genetics. Part A.

Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome

K. Zerres, T. Eggermann, M. Begemann, 2013, Molecular Syndromology.

NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features

K. Zerres, T. Eggermann, V. Kučinskas, 2017, Clinical genetics.

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2010, American journal of medical genetics. Part A.

Diagnostic Proceeding in Silver-Russell Syndrome

K. Zerres, T. Eggermann, H. Wollmann, 2012, Molecular Diagnosis.

Germ-line mutations in nonsyndromic pheochromocytoma.

J. Schipper, K. Zerres, C. Eng, 2002, The New England journal of medicine.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

P. Lockhart, S. Nelson, K. Zerres, 2016, Brain : a journal of neurology.

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

Thomas Eggermann, Hartmut Engels, A. Latos-Bieleńska, 2008, American journal of medical genetics. Part A.

Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15‐PGHD/HPGD loss‐of‐function mutations

K. Zerres, C. Bergmann, H. Morbach, 2011, Experimental dermatology.

Uniparental Disomy and Robertsonian Translocations

K. Zerres, T. Eggermann, 2012, Molecular Diagnosis.

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

K. Zerres, T. Eggermann, P. Propping, 2005, American journal of medical genetics. Part A.

Uniparental disomy: clinical indications for testing in growth retardation

K. Zerres, T. Eggermann, H. Wollmann, 2002, European Journal of Pediatrics.

Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.

K. Zerres, T. Eggermann, 2003, Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology.

Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.

K. Zerres, T. Eggermann, M. Curtis, 2004, Genetic counseling.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, American journal of human genetics.

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

K. Zerres, E. Passarge, D. Emons, 1991, American journal of medical genetics.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

Hsp27‐2D‐gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies

S. Simon, K. Zerres, N. Romero, 2005, FEBS letters.

Recurrence risks of hypertensive diseases in pregnancy after HELLP syndrome

K. Zerres, S. Rudnik-Schöneborn, W. Rath, 2011, Journal of perinatal medicine.

Basics of Related Medical Disciplines

H. Bolz, K. Zerres, E. Seemanová, 2019 .

Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene

M. Rietschel, G. Danieli, K. Zerres, 1992, Neuromuscular Disorders.

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

J. Beckmann, M. Hauser, K. Zerres, 2009, American journal of human genetics.

Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies.

K. Zerres, S. Rudnik-Schöneborn, B. Glauner, 1997, Archives of neurology.

Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus.

K. Zerres, S. Rudnik-Schöneborn, D. Röhrig, 1998, American journal of medical genetics.

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

U. Suter, K. Zerres, S. Rudnik-Schöneborn, 2007, American journal of human genetics.

Uniparental disomy as an unexpected cause of Meckel–Gruber syndrome: report of a case

K. Zerres, T. Eggermann, I. Kurth, 2017, Pediatric Nephrology.

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases

K. Zerres, U. Gembruch, N. O. Brüchle, 2017, Archives of Gynecology and Obstetrics.

Further arguments for non-fortuitous association of Potter sequence with XYY males.

K. Zerres, S. Rudnik-Schöneborn, G. Schwanitz, 1996, Annales de Genetique.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, R. Gershoni-baruch, G. Hülskamp, 2005, Nature Genetics.

Cerebral folate de fi ciency : A neurometabolic syndrome ? ☆ , ☆ ☆

K. Zerres, N. Blau, M. Häusler, 2011 .

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

A. Paterson, M. Laakso, E. Coto, 2010, Journal of the American Society of Nephrology : JASN.

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

Peter Nürnberg, Kerstin Konrad, Klaus Zerres, 2014, Human mutation.

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease

K. Zerres, C. Bergmann, V. Frank, 2006, Journal of Human Genetics.

Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2015, Molecular and cellular probes.

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

D. Seelow, H. Schild, A. Ekici, 2006, American journal of human genetics.

Spinal Muscular Atrophies

K. Zerres, S. Rudnik-Schöneborn, 2013 .

Neurodegenerative Diseases: Spinal muscular atrophies

K. Zerres, S. Rudnik-Schöneborn, 2005 .

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

Y. Hofmann, B. Wirth, K. Zerres, 2003, Human Genetics.

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.

T. Wienker, A. Wetter, B. Wirth, 1999, American journal of human genetics.

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.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1995, Human molecular genetics.

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

P. McIntyre, Yuan Yuan, K. Kaluarachchi, 2011, Nature Genetics.

A new case of proximal monosomy 1p36, extending the phenotype

T. Krings, K. Zerres, S. Rudnik-Schöneborn, 2008, American journal of medical genetics. Part A.

Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder.

M. Nöthen, K. Zerres, H. Födisch, 1993, American journal of medical genetics.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome

Carsten Bergmann, Peter Nürnberg, Klaus Zerres, 2008, Human mutation.

CHAPTER 9 – Polycystic Kidney Disease: ADPKD and ARPKD

K. Zerres, C. Bergmann, 2008 .

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA

H. Urbach, K. Zerres, S. Rudnik-Schöneborn, 2005, Neuroscience.

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

A. Perkins, N. Ortiz-Brüchle, K. Zerres, 2017, Nature Genetics.

Genetics of cystic kidney diseases

K. Zerres, 1987, Pediatric Nephrology.

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel‐Gruber syndrome

K. Zerres, C. Bergmann, V. Frank, 2007, Human mutation.

Spinal muscular atrophy—clinical and genetic correlations

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1997, Neuromuscular Disorders.

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.

K. Zerres, S. Rudnik-Schöneborn, 1995, Archives of neurology.

Pontocerebellar hypoplasia

K. Zerres, S. Rudnik-Schöneborn, P. Barth, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

K. Zerres, S. Rudnik-Schöneborn, G. Germino, 2004, Human mutation.

Neurodevelopmental risks in twin-to-twin transfusion syndrome: preliminary findings.

K. Zerres, F Haverkamp, C Lex, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships

K. Zerres, S. Rudnik-Schöneborn, F. Deget, 1995, Clinical genetics.

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.213.3

M. Leppert, J. Ott, T. Gilliam, 1990, Nature.

Nephrology Dialysis Transplantation Autosomal recessive polycystic kidney disease

K. Zerres, C. Steinkamm, S. Rudnik-Schoneborn, 2005 .

Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis

K. Zerres, S. Rudnik-Schöneborn, M. Witsch-Baumgartner, 2016, Gynecologic and Obstetric Investigation.

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2006, European journal of medical genetics.

Transcriptional complexity in autosomal recessive polycystic kidney disease.

K. Zerres, C. Bergmann, V. Frank, 2014, Clinical journal of the American Society of Nephrology : CJASN.

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

F. Schneider, K. Zerres, S. Rudnik-Schöneborn, 2005, Kidney international.

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

Carsten Bergmann, Klaus Zerres, Ali Gharavi, 2003, Journal of the American Society of Nephrology : JASN.

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.

E. Avner, Z. Ren, K. Zerres, 2002, Journal of the American Society of Nephrology : JASN.

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

Carsten Bergmann, Sabine Rudnik-Schöneborn, Klaus Zerres, 2004, Human mutation.

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Carsten Bergmann, Sabine Rudnik-Schöneborn, Klaus Zerres, 2003, Journal of the American Society of Nephrology : JASN.

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

E. Bertini, K. Bushby, F. Muntoni, 2003, Annals of neurology.

93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) – clinical picture (6–8 April 2001, Naarden, The Netherlands)

K. Zerres, S. Rudnik-Schöneborn, 2003, Neuromuscular Disorders.

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

T. Wienker, A. Pfeufer, B. Wirth, 1999, American journal of human genetics.

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Martin Zenke, Klaus Zerres, Tim H. Brümmendorf, 2015, PloS one.

Genetic loci influencing kidney function and chronic kidney disease

Mark N. Wass, Graham M Lord, P. Elliott, 2010, Nature Genetics.

Chromosomal findings in fetuses with prenatally diagnosed cysts of the choroid plexus

K. Zerres, U. Gembruch, G. Schwanitz, 1992, Human Genetics.

Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease

K. Zerres, L. Onuchic, L. Guay-Woodford, 1995, Mammalian Genome.

Mosaicism of isochromosome 18p.

K. Zerres, M. Hansmann, H. Göcke, 1986 .

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

J. Veltman, B. Wirth, R. Sinke, 2013, American journal of human genetics.

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

K. Zerres, T. Eggermann, W. Rath, 2010, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Linkage analysis of spinal muscular atrophy.

J. Ott, T. Lehner, K. Zerres, 1992, Genomics.

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.

K. Zerres, C. Hanemann, C. Bergmann, 2003, Archives of neurology.

Clinical Spectrum and Diagnostic Criteria of Infantile Spinal Muscular Atrophy: Further Delineation on the Basis of SMN Gene Deletion Findings

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1996, Neuropediatrics.

Clinical variability of autosomal dominant spinal muscular atrophy

M. Rietschel, K. Zerres, S. Rudnik-Schöneborn, 1992, Journal of the Neurological Sciences.

Heterogeneity in proximal spinal muscular atrophy

M. Rietschel, K. Zerres, S. Rudnik-Schöneborn, 1990, The Lancet.

Diagnosis, Pathogenesis, and Treatment Prospects in Cystic Kidney Disease

K. Zerres, C. Bergmann, V. Frank, 2012, Molecular Diagnosis & Therapy.

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

E. Avner, R. Salonen, P. Heikkilä, 1998, American journal of medical genetics.

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

K. Zerres, T. Eggermann, C. Bergmann, 2005, American journal of medical genetics. Part A.

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

Nadim Joni Shah, Tilo Kircher, Axel Krug, 2009, NeuroImage.

Association of the DTNBP1 genotype with cognition and personality traits in healthy subjects

V Markov, M. Rietschel, M. Nöthen, 2009, Psychological Medicine.

Long Term Peritoneal Dialysis in an Anuric Preterm Infant – a Futile Treatment?

K. Zerres, G. Klaus, D. Klauwer, 2011, Klinische Padiatrie.

Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals

Tilo Kircher, Axel Krug, Vanessa Nieratschker, 2010, NeuroImage.

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

Nadim Joni Shah, Tilo Kircher, Axel Krug, 2009, NeuroImage.

Kidney growth and renal function in unilateral multicystic dysplastic kidney disease

K. Zerres, S. Rudnik-Schöneborn, U. John, 1998, Pediatric Nephrology.

Duplication 7p de novo and literature review.

K. Zerres, G. Schwanitz, K. Gellissen, 1989, Annales de genetique.

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.

K. Zerres, L. Weber, D. Mekahli, 2021, Kidney international.

The effect of G72 genotype on neural correlates of memory encoding and retrieval

Nadim Joni Shah, Tilo Kircher, Axel Krug, 2010, NeuroImage.

Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation

K. Zerres, M. Ausserlechner, C. Bergmann, 2006, Pediatric transplantation.

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)

K. Zerres, C. Bergmann, J. Senderek, 2005, Journal of Medical Genetics.

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

E. Avner, K. Zerres, G. Germino, 2002, American journal of medical genetics.

Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.

E. Avner, K. Zerres, S. Rudnik-Schöneborn, 1998, Genomics.

Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender

K. Zerres, S. Rudnik-Schöneborn, K. Schärer, 1996, Acta paediatrica.

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen

B. Wirth, V. Steinbicker, K. Zerres, 1994, Nature Genetics.

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis

K. Zerres, U. Gembruch, M. Hansmann, 1988, Prenatal diagnosis.

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

E. Bertini, T. Huisman, K. Zerres, 2014, The Cerebellum.

MAOA-VNTR polymorphism modulates context-dependent dopamine release and aggressive behavior in males

Paul Cumming, Felix M. Mottaghy, Ingo Vernaleken, 2016, NeuroImage.

Body growth in children with polycystic kidney disease

K. Zerres, S. Rudnik-Schöneborn, M. Konrad, 1995, Acta paediatrica.

Autosomal recessive polycystic kidney disease

K. Zerres, S. Rudnik-Schöneborn, J. Becker, 1992, The clinical investigator.

Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1

K. Zerres, S. Rudnik-Schöneborn, N. Barišić, 2016, Neuromuscular Disorders.

The effect of Neuregulin 1 on neural correlates of episodic memory encoding and retrieval

Tilo Kircher, Axel Krug, Markus M. Nöthen, 2010, NeuroImage.

Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype

K. Zerres, S. Rudnik-Schöneborn, M. Elbracht, 2009, American journal of medical genetics. Part A.

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.

R. Autschbach, C. Weber, R. Dronskowski, 2004, European heart journal.

Alcohol Consumption in Healthy OPRM1 G Allele Carriers and Its Association with Impulsive Behavior.

O. Tüscher, K. Zerres, T. Eggermann, 2015, Alcohol and alcoholism.

Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings.

K. Zerres, M. Backes, C. Laufersweiler-Plass, 2003, Developmental medicine and child neurology.

Psychopathology and familial stress - comparison of boys with Fragile X syndrome and spinal muscular atrophy.

K. Zerres, M. Backes, C. Laufersweiler-Plass, 2002, Journal of child psychology and psychiatry, and allied disciplines.

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1995, Human molecular genetics.

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1997, Annals of neurology.

Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2009, Clinical genetics.

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1994, American journal of human genetics.

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2008, Neuromuscular Disorders.

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2007, Neurogenetics.

The Predictive Value of Achieved Motor Milestones Assessed in 441 Patients with Infantile Spinal Muscular Atrophy Types II and III

K. Zerres, S. Rudnik-Schöneborn, I. Hausmanowa-Petrusewicz, 2001, European Neurology.

Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.

B. Wirth, F. Hanefeld, K. Zerres, 1996, American journal of human genetics.

Genetic counseling in families with spinal muscular atrophy type Kugelberg-Welander

K. Zerres, T. Grimm, 2004, Human Genetics.

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

Nadim Jon Shah, Tilo Kircher, Axel Krug, 2009, Human brain mapping.

Effect of COMT val158met genotype on cognition and personality

V Markov, T. Kircher, K. Zerres, 2008, European Psychiatry.

Germline Mutations in Non-syndromic Pheochromocytoma

J. Schipper, K. Zerres, C. Eng, 2004 .

Maternal factor V Leiden mutation is associated with HELLP syndrome in Caucasian women

K. Zerres, A. Gressner, R. Weiskirchen, 2008, Acta obstetricia et gynecologica Scandinavica.

APOE alleles are not associated with calcific aortic stenosis

J. Erdmann, K. Zerres, R. Hoffmann, 2006, Heart.

Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease

K. Zerres, H. Neumann, H. Dörr, 2001, European Journal of Pediatrics.

Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli

K. Zerres, U. Gembruch, G. Schwanitz, 1989, Human Genetics.

Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease.

E. Avner, K. Zerres, L. Guay-Woodford, 2000, Journal of the American Society of Nephrology : JASN.

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

K. Zerres, T. Eggermann, P. Diedrich, 2009, Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie.

Pregnancy and delivery in Charcot‐Marie‐Tooth disease type 1

K. Zerres, S. Rudnik-Schöneborn, D. Röhrig, 1993, Neurology.

Increased risk for abnormal placentation in women affected by myotonic dystrophy

K. Zerres, S. Rudnik-Schöneborn, D. Röhrig, 1998, Journal of perinatal medicine.

MANGANESE deficiency.

E. Zackai, G. Reifenberger, T. Dierks, 2022, Journal of the American Veterinary Medical Association.

Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings

A. Gontard, K. Zerres, M. Backes, 2003, Developmental medicine and child neurology.

The interleukin-6 promoter polymorphism is associated with elevated leukocyte, lymphocyte, and monocyte counts and reduced physical fitness in young healthy smokers

C. Weber, K. Zerres, R. Hoffmann, 2003, Journal of Molecular Medicine.

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

K. Zerres, J. Sloane-Stanley, P. Harris, 1997, American journal of human genetics.

A further patient with Pai syndrome with autosomal dominant inheritance?

K. Zerres, S. Rudnik-Schöneborn, 1994, Journal of medical genetics.

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands

R. Finkel, B. Wirth, E. Mercuri, 2005, Neuromuscular Disorders.

The Johanson‐Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature

K. Zerres, E. Holtgrave, E. ‐A. Holtgrave, 1986, Clinical genetics.

Clinical features of unilateral multicystic renal dysplasia in children

K. Zerres, S. Rudnik-Schöneborn, J. Ehrich, 1998, European Journal of Pediatrics.

Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning.

K. Zerres, H. Fahnenstich, M. Cantz, 1996, Fetal diagnosis and therapy.

The impact of a Dysbindin schizophrenia susceptibility variant on fiber tract integrity in healthy individuals: A TBSS-based diffusion tensor imaging study

Nadim Joni Shah, Tilo Kircher, Axel Krug, 2012, NeuroImage.

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

Nadim Jon Shah, Tilo Kircher, Axel Krug, 2009, Human brain mapping.

Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy

K. Zerres, T. Grimm, U. Kehren, 1987, Clinical Genetics.

No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON

K. Gerbitz, K. Zerres, B. Obermaier-Kusser, 1992, FEBS letters.

Neuropsychological Correlates of Transcription Factor AP-2Beta, and Its Interaction with COMT and MAOA in Healthy Females

Ingo Vernaleken, Gerhard Gründer, Klaus Zerres, 2013, Neuropsychobiology.

Role of interferon-γ gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study

K. Zerres, F. Scolari, A. Amoroso, 2006, European Journal of Human Genetics.

Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with differences in frontal brain activation in a working memory task in healthy individuals

Nadim Joni Shah, Tilo Kircher, Axel Krug, 2008, NeuroImage.

No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers

M. Rietschel, K. Zerres, S. Rudnik-Schöneborn, 2004, Human Genetics.

Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1993, Genomics.

Fine mapping of MEP1A, the gene encoding the alpha subunit of the metalloendopeptidase meprin, to human chromosome 6P21.

K. Zerres, W. Jiang, H. Schildhaus, 1995, Biochemical and biophysical research communications.

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.

K. Zerres, S. Rudnik-Schöneborn, C. Bergmann, 2001, Brain research. Molecular brain research.

Stress and Coping in Parents of Children and Adolescents with Spinal Muscular Atrophy

K. Zerres, S. Rudnik-Schöneborn, A. von Gontard, 2012, Klinische Pädiatrie.

Campomelic dysplasia without overt campomelia.

K. Zerres, M. Nöthen, G. Jäger, 1993, Clinical dysmorphology.

Desbuquois syndrome: three further cases and review of the literature.

K. Zerres, M. Ausems, F. Beemer, 1995, Clinical dysmorphology.

Autosomal recessive polycystic kidney disease.

K. Zerres, S. Rudnik-Schöneborn, J. Becker, 1998, Journal of molecular medicine.

White-matter disease in 18q deletion (18q−) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination

A. Thron, K. Zerres, V. Ramaekers, 2005, Neuroradiology.

[Johanson-Blizzard syndrome].

K. Zerres, S. Rudnik-Schöneborn, F. Beemer, 1991, Klinische Pädiatrie.

COMT genotype and its role on hippocampal–prefrontal regions in declarative memory

Tilo Kircher, Axel Krug, N Jon Shah, 2010, NeuroImage.

Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with personality traits in healthy individuals

Tilo Kircher, Axel Krug, Marcella Rietschel, 2008, European Psychiatry.

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

M. Häring, K. Zerres, N. Blau, 2001, Molecular genetics and metabolism.

Familial schizencephaly: further delineation of a rare disorder.

K. Zerres, M. Lentze, D. Emons, 1995, Journal of medical genetics.

MASA syndrome: clinical variability and linkage analysis.

M. Rietschel, K. Zerres, W. Friedl, 1991, American journal of medical genetics.

No evidence for a role of SLC7A10 in 19q13 in the etiology of cystinuria.

K. Zerres, T. Eggermann, U. Vester, 2004, Clinical nephrology.

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

K. Zerres, S. Rudnik-Schöneborn, R. Schumacher, 2000, American journal of medical genetics.

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

T. Meitinger, B. Lorenz, K. Zerres, 1994, American journal of human genetics.

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, A. Ekici, R. Gershoni-baruch, 2006, Nature Genetics.

Johanson-Blizzard-Syndrom

K. Zerres, S. Rudnik-Schöneborn, F. Beemer, 1991 .

ADULT syndrome allelic to limb mammary syndrome (LMS)?

T. Wienker, K. Zerres, P. Propping, 2000, American journal of medical genetics.

AREGPKD - A European ARPKD Registry Study

N. Klopp, T. Illig, S. Testa, 2015 .

POLYCYSTIC KIDNEY DISEASE IN THE FETUS

K. Zerres, R. Waldherr, H. Enders, 1989, The Lancet.

Mosaicism of isochromosome 18p. Cytogenetic and morphological findings in a male fetus at 21 weeks.

K. Zerres, M. Hansmann, H. Göcke, 1986, Prenatal Diagnosis.

Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12.

B. Wirth, K. Zerres, G. Mücher, 1994, American journal of human genetics.

A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.

A. N. Goncharuk, E. Avner, K. Zerres, 1999, Genomics.

The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.

E. Avner, K. Zerres, G. Germino, 1995, American journal of human genetics.

Brugada‐like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients

K. Zerres, S. Rudnik-Schöneborn, W. Kress, 2011, European journal of neurology.

Maternal uniparental disomy for chromosome 14.

E. Zackai, G. Reifenberger, T. Dierks, 1991, Journal of medical genetics.

Genetic Factors in HELLP Syndrome – A Critical Overview

K. Zerres, W. Rath, S. Mütze, 2009 .

Neither maternal nor fetal mutation (E474Q) in the α-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome

K. Zerres, T. Eggermann, W. Rath, 2007, Journal of perinatal medicine.

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, M. Schuelke, 2008, Journal of child neurology.

Long-Term Observations of Patients with Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, C. Hübner, 2004, Neuropediatrics.

Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?

K. Zerres, M. Hansmann, G. Knöpfle, 2004, Human Genetics.

Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome.

K. Zerres, G. Schwanitz, 1987, Annales de Genetique.

Early morphological evidence of autosomal recessive polycystic kidney disease

K. Zerres, S. Rudnik-Schöneborn, P. Lunt, 1995, The Lancet.

Autosomal recessive polycystic kidney disease

K. Zerres, S. Rudnik-Schöneborn, J. Becker, 1998, Journal of Molecular Medicine.

Autosomal recessive polycystic kidney disease.

K. Zerres, S. Rudnik-Schöneborn, J. Becker, 1997, Contributions to nephrology.

Late manifestation of autosomal-recessive polycystic kidney disease in two sisters.

B. Wirth, K. Zerres, H. Neumann, 1988, American journal of nephrology.

Earliest ultrasound findings and description of splicing mutations in Meckel–Gruber syndrome

W. Jonat, K. Zerres, C. Eckmann-Scholz, 2012, Archives of Gynecology and Obstetrics.

Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.

K. Zerres, H. Rehder, C. Bergmann, 2008, The New England journal of medicine.

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?

K. Zerres, S. Rudnik-Schöneborn, E. Koscielniak, 2005, Neuromuscular Disorders.

Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease.

K. Zerres, H. Neumann, V. van Velthoven, 1999, Nephrology, Dialysis and Transplantation.

Do non-invasive prenatal tests promote discrimination against people with Down syndrome? What should be done?

W. Holzgreve, K. Zerres, S. Rudnik-Schöneborn, 2021, Journal of perinatal medicine.

Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals

Thomas W. Mühleisen, S. Krach, A. Jansen, 2010, NeuroImage.

The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait

K. Zerres, F. Scolari, A. Amoroso, 2005, BMC nephrology.

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

COMT genotype and its role on hippocampal–prefrontal regions in declarative memory

S. Krach, A. Jansen, T. Kircher, 2010, NeuroImage.

Autosomal recessive polycystic kidney disease

K. Zerres, S. Rudnik-Schöneborn, J. Becker, 1998, Journal of Molecular Medicine.

The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects

K. Zerres, C. Bergmann, J. Senderek, 2007, The British journal of dermatology.

Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders

K. Zerres, S. Rudnik-Schöneborn, 2022, Medizinische Genetik.

Familial schizencephaly: further delineation of a rare disorder.

K. Zerres, M. Lentze, D. Emons, 1995, Journal of medical genetics.

Effect of MAOA Genotype on Resting-State Networks in Healthy Participants.

Christina M. Pawliczek, U. Habel, K. Zerres, 2015, Cerebral cortex.

Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome

K. Zerres, M. Häusler, M. Hengst, 2010, American journal of medical genetics. Part A.

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

Tilo Kircher, Axel Krug, N. Jon Shah, 2009, European Archives of Psychiatry and Clinical Neuroscience.