C. Bergmann

发表

Rationale, design and objectives of ARegPKD, a European ARPKD registry study

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

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

T. Eisenberger, C. Bergmann, C. Decker, 2015, PloS one.

Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD).

B. Rudolph, C. Ward, C. Renken, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Transcriptional regulator PRDM12 is essential for human pain perception

David L. Bennett, Andreas C. Themistocleous, I. Katona, 2015, Nature Genetics.

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

J. Al-Aama, B. Lorenz, T. Neuhann, 2013, PloS one.

A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod–cone dystrophy phenotype on the Arabian Peninsula

T. Eisenberger, C. Bergmann, H. Bolz, 2014, British Journal of Ophthalmology.

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies

C. Bergmann, E. Decker, H. Bolz, 2016, Ophthalmic genetics.

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

A. Hoischen, J. Veltman, B. Wirth, 2011, American journal of human genetics.

Clinical utility gene card for: Meckel syndrome

R. Salonen, C. Bergmann, M. Kestilä, 2011, European Journal of Human Genetics.

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)

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2002, Journal of medical genetics.

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.

K. Zerres, C. Bergmann, V. Frank, 2008, The Journal of investigative dermatology.

Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture’s and Alport diseases

Ming-hui Zhao, D. Abrahamson, R. Wüthrich, 2021, The Journal of biological chemistry.

Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.

K. Zerres, C. Bergmann, R. Buettner, 2006, Gene expression patterns : GEP.

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

M. Abramowicz, C. Bergmann, E. Holinski‐Feder, 2008, Clinical genetics.

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.

S. Hooper, M. Braun, L. Wilkins-Haug, 2014, The Journal of pediatrics.

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Kristen M. Laricchia, D. MacArthur, S. Mane, 2019, Journal of the American Society of Nephrology : JASN.

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

Markus M. Rinschen, M. Boerries, H. Busch, 2018, Cell reports.

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.

O. Gribouval, C. Antignac, C. Bergmann, 2016, Journal of the American Society of Nephrology : JASN.

Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR.

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

LRP5 variants may contribute to ADPKD

A. Hoischen, J. Veltman, C. Gilissen, 2015, European Journal of Human Genetics.

Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

H. Blanché, S. Saunier, A. Boland, 2018, Human mutation.

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 NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

Colin A. Johnson, H. Bolz, B. Schermer, 2013, Human molecular genetics.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

S. Levy, C. Dang, R. Lewis, 2010, Nature Genetics.

Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews.

P. Winyard, D. Haffner, M. Liebau, 2018, JAMA pediatrics.

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants

D. Gale, J. Sayer, C. Bergmann, 2021, Annals of human genetics.

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

C. Bergmann, Steffen Neuber, V. Frank, 2020, Genetics in Medicine.

Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.

J. Hentschel, D. Seehofer, T. Lindner, 2019, Kidney international.

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

D. Mekahli, C. Bergmann, C. Gimpel, 2021, Pediatric Nephrology.

Congenital fibrocystic liver diseases.

J. Drenth, C. Bergmann, M. Chrispijn, 2010, Best practice & research. Clinical gastroenterology.

Renal cystic diseases during the perinatal and neonatal period.

C. Bergmann, R. Raina, R. Chakraborty, 2020, Journal of neonatal-perinatal medicine.

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

D. Haffner, M. Liebau, C. Bergmann, 2022, Orphanet Journal of Rare Diseases.

Dosage-sensitive network in polycystic kidney and liver disease: multiple mutations cause severe hepatic and neurological complications.

A. Ferbert, C. Bergmann, V. Frank, 2012, Journal of hepatology.

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

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

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.

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

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

Combined liver‐kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome

C. Bergmann, B. Nashan, M. Kemper, 2013, Transplant international : official journal of the European Society for Organ Transplantation.

Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F

C. Neuhaus, C. Bergmann, Patrik Schatz, 2018, Ophthalmic genetics.

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.

Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie)

R. Rossi, D. Haffner, M. Liebau, 2020, Klinische Pädiatrie.

Ubiquitin ligase RNF 146 coordinates bone dynamics and energy metabolism

G. Karsenty, C. Bergmann, R. Rottapel, 2022 .

Ruptured Cerebral Aneurysm and Acute Bilateral Carotid Artery Dissection in a Patient with Polycystic Kidney Disease and Polycystic Liver Disease

A. Ferbert, W. Deinsberger, C. Bergmann, 2013, Cerebrovascular Diseases.

Treating C3 glomerulopathy with eculizumab

E. Neumann-Haefelin, G. Walz, C. Bergmann, 2018, BMC Nephrology.

The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.

R. Müller, B. Schermer, T. Benzing, 2012, Human molecular genetics.

Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay

H. Bolz, C. Bergmann, H. Bolz, 2014, British Journal of Ophthalmology.

Charcot‐Marie‐Tooth Neuropathy Type 2 and P0 Point Mutations: Two Novel Amino Acid Substitutions (Asp61Gly; Tyr119Cys) and a Possible “Hotspot” on Thr124Met

V. Timmerman, C. Bergmann, J. Senderek, 2000, Brain pathology.

Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

T. Lindner, C. Bergmann, Anna Seidel, 2019, Front. Genet..

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.

Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.

T. Fehr, K. Budde, M. Konrad, 2015, Clinical journal of the American Society of Nephrology : CJASN.

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

R. Crazzolara, C. Bergmann, D. Prawitt, 2017, Pediatric blood & cancer.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of Human Genetics.

A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

H. Bolz, B. Hinkes, K. Eckardt, 2012, BMC Nephrology.

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.

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.

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 .

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X

C. Bergmann, R. Mendoza-Londono, L. Dupuis, 2018, American journal of medical genetics. Part A.

Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.

H. Bolz, C. Bergmann, Arif O. Khan, 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

Sulaiman M. Alsulaiman, Victor G. Puelles, H. Schlüter, 2022, The Journal of clinical investigation.

Interstitial Nephritis: A Change in Diagnosis With Next-Generation Sequencing

K. Eckardt, C. Bergmann, E. Decker, 2022, Kidney International Reports.

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects

G. Seemann, E. Mayatepek, K. Timothy, 2022, International journal of molecular sciences.

Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome.

C. Bergmann, L. Pape, F. Bange, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Eculizumab as First-Line Therapy for Atypical Hemolytic Uremic Syndrome

C. Bergmann, M. Christmann, J. Brand, 2014, Pediatrics.

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

N. Klopp, J. Gerss, H. Omran, 2022, Kidney international reports.

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

P. Nürnberg, C. Bergmann, J. Altmüller, 2018, Journal of Medical Genetics.

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.

[Hemolytic kidney failure and transient ischemic attack in a 32-year-old female].

T. Lindner, C. Bergmann, R. Anders, 2016, Der Internist.

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln)

V. Ramaekers, C. Bergmann, J. Senderek, 1998, Acta Neuropathologica.

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

J. Heckenlively, F. Hildebrandt, Susan J Allen, 2011, Kidney international.

Genetic Characteristics of the Human Hepatic Stellate Cell Line LX-2

R. Siebert, S. Friedman, R. Weiskirchen, 2013, PloS one.

Contents Vol. 35, 2013

Y. K. Chen, I. C. Schaaf, W. Chu, 2013, Cerebrovascular Diseases.

Polycystic kidney disease

L. Guay-Woodford, V. Torres, P. Harris, 2018, Nature Reviews Disease Primers.

Early manifestations of polycystic kidney disease

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

Molecular based newborn screening in Germany: Follow-up for cystinosis

W. Gahl, C. Bergmann, S. Burggraf, 2019, Molecular genetics and metabolism reports.

Reduced Methotrexate Clearance and Renal Impairment in a Boy With Osteosarcoma and Earlier Undetected Autosomal Dominant Polycystic Kidney Disease (ADPKD)

L. Weber, C. Bergmann, M. Alberer, 2010, Journal of pediatric hematology/oncology.

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

M. Larsen, C. Bergmann, J. Hertz, 2022, Pediatric Nephrology.

Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation

C. Bergmann, U. Helmchen, J. Halbritter, 2019, BMC Nephrology.

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

G. Remuzzi, K. Dahan, C. Antignac, 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Autosomal recessive polycystic kidney disease (ARPKD).

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

Eculizumab in chemotherapy-induced thrombotic microangiopathy

C. Bergmann, D. Fürst, B. Schröppel, 2020, Clinical nephrology. Case studies.

Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies

T. Lindner, C. Bergmann, M. Kirschfink, 2017, Clinical kidney journal.

Lifelong Effect of Therapy in Young Patients with the COL4A5 Alport Missense Variant p.(Gly624Asp): a Prospective Cohort Study.

M. Gollasch, C. Bergmann, O. Gross, 2022, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.

R. Mahfouz, C. Bergmann, H. Bolz, 2012, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Novel Mutation in the Glycoprotein Ibβ in a Patient with Bernard-Soulier Syndrome: Possibility of Distant Parental Consanguinity

R. Mahfouz, C. Bergmann, H. Bolz, 2011 .

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of Human Genetics.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Camurati-Engelmann Disease : review of the clinical , radiological and molecular data of 24 families and implications towards diagnostics and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005 .

Management of bone disease in cystinosis: Statement from an international conference

W. Gahl, O. Greil, D. Haffner, 2019, Journal of inherited metabolic disease.

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

M. Boerries, I. Wilson, T. Eisenberger, 2022, American journal of human genetics.

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

Colin A. Johnson, E. Molinari, F. Hildebrandt, 2018, European Journal of Human Genetics.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

A. Köttgen, T. Ahluwalia, O. Gribouval, 2019, The Journal of clinical investigation.

Becker muscular dystrophy combined with x‐linked Charcot‐Marie‐Tooth neuropathy

A. Jauch, B. Janssen, C. Bergmann, 2000, Muscle & nerve.

Novel causative variants in patients with achromatopsia

C. Bergmann, S. Nowilaty, Patrik Schatz, 2018, Ophthalmic genetics.

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.

Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism

G. Karsenty, C. Bergmann, José La Rose, 2017, The Journal of clinical investigation.

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Andreas C. Themistocleous, I. Katona, T. Wieland, 2015, Nature Genetics.

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

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

COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.

C. Bergmann, S. Weber, J. Hoefele, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The Bench to Bedside Transition COL 4 A 5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH 9

C. Bergmann, S. Weber, J. Hoefele, 2012 .

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

K. Steel, M. Ptok, U. Zimmermann, 2015, Orphanet Journal of Rare Diseases.

Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the “DFNA48 Gene”, as a Cause of Deafness

C. Neuhaus, T. Eisenberger, C. Bergmann, 2014, Human mutation.

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.

The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.

P. Gipson, Mathieu Lemaire, H. Cheong, 2017, Journal of the American Society of Nephrology : JASN.

A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations

H. Bolz, C. Neuhaus, C. Bergmann, 2015, Ophthalmic genetics.

Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.

H. Bolz, C. Bergmann, Arif O. Khan, 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

M. Hurles, P. Scambler, T. Neuhann, 2013, Human mutation.

The Bench to Bedside Transition – Exceptional Case Double homozygous missense mutations in DACH 1 and BMP 4 in a patient with bilateral cystic renal dysplasia

M. Konrad, C. Bergmann, F. Schaefer, 2013 .

Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.

M. Konrad, C. Bergmann, F. Schaefer, 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

X-linked spondyloepiphyseal dysplasia tardaMolecular cause of a heritable disorder associated with early degenerative joint disease

C. Bergmann, R. Brenner, J. Fiedler, 2003, Acta orthopaedica Scandinavica.

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 .

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Colin A. Johnson, Nancy F. Hansen, R. Gibbs, 2011, Nature Genetics.

Polycystic kidney disease

L. Guay-Woodford, V. Torres, P. Harris, 2017, Nature Reviews Disease Primers.

Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8

F. Kortüm, T. Liehr, M. Shoukier, 2013, Cytogenetic and Genome Research.

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

A. Köttgen, J. Florez, M. Jadoul, 2022, Kidney international.

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.

A de novo GLI3 mutation in a patient with acrocallosal syndrome

L. Biesecker, M. Lequin, C. Bergmann, 2013, American journal of medical genetics. Part A.

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.

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Ivana K. Kim, S. Puig, N. Hayward, 2018, Journal of the National Cancer Institute.

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

M. Marlais, P. Winyard, P. Harris, 2019, Nature Reviews Nephrology.

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.

Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly

C. Bergmann, Steffen Neuber, J. Piontek, 2021, Genes & diseases.

CHAPTER 5 – Genetics: Basic Concepts and Testing

Carsten Bergmann, Thomas Eggermann, T. Eggermann, 2008 .

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.

A SEC61A1 variant is associated with autosomal dominant polycystic liver disease

C. Bergmann, A. Zibert, M. Krahn, 2022, Liver international : official journal of the International Association for the Study of the Liver.

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.

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.

X-linked dominant Charcot–Marie–Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations 1 1 Presented in part at the 7th Annual Symposium of the European Charcot–Marie–Tooth Consortium, 3–5 July 1998, in Antwerp, Belgi

M. Bajbouj, B. Boroojerdi, M. Hungs, 1999, Journal of the Neurological Sciences.

Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series

P. Zipfel, C. Bergmann, N. Mohebbi, 2018, Clinical kidney journal.

Tectonic gene mutations in patients with Joubert syndrome

P. Huppke, H. Bolz, C. Bergmann, 2014, European Journal of Human Genetics.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness

C. Neuhaus, C. Bergmann, Patrik Schatz, 2019, Molecular vision.

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

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

Polycystic Kidney Disease: ADPKD and ARPKD

M. Liebau, C. Bergmann, 2016 .

CHAPTER 9 – Polycystic Kidney Disease: ADPKD and ARPKD

K. Zerres, C. Bergmann, 2008 .

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.

Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial

T. Friede, B. Tönshoff, M. Konrad, 2020, Clinical genetics.

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.

Extended mutation spectrum of Usher syndrome in Finland

E. Sankila, C. Neuhaus, C. Bergmann, 2013, Acta ophthalmologica.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

R. Roepman, N. Sebire, M. Ueffing, 2013, Nature Genetics.

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

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

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

K. Budde, C. Bergmann, N. Bachmann, 2021, Genetics in Medicine.

Somatic loss of polycystic disease genes contributes to the formation of isolated and polycystic liver cysts

R. Pfundt, J. Drenth, C. Bergmann, 2014, Gut.

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

A. Hoischen, J. Veltman, C. Gilissen, 2014, Proceedings of the National Academy of Sciences.

Clinical utility gene card for: Meckel syndrome – update 2016

R. Salonen, C. Bergmann, V. Frank, 2016, European Journal of Human Genetics.

Meckel Syndrome and Related Disorders

C. Bergmann, V. Frank, 2013 .

A complicated case of atypical hemolytic uremic syndrome with frequent relapses under eculizumab

L. Weber, C. Bergmann, B. Hoppe, 2015, Pediatric Nephrology.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of Human Genetics.

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

Colin A. Johnson, E. Molinari, F. Hildebrandt, 2018, European Journal of Human 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.

Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest

C. Bergmann, 2018, Nephron.

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

C. Bergmann, 2018, Front. Pediatr..

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

Carsten Bergmann, C. Bergmann, 2014, Pediatric Nephrology.

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.

A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)

Z. Gucev, V. Tasic, C. Bergmann, 2018, Prilozi.

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

D. Sabatini, E. Schulze-Bahr, B. Schermer, 2021, Journal of the American Society of Nephrology : JASN.

Epigenetics and imprinting.

C. Bergmann, N. Bachmann, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein*

S. Ralston, K. Janssens, C. Bergmann, 2003, The Journal of Biological Chemistry.

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.

Diagnosis, Pathogenesis, and Treatment Prospects in Cystic Kidney Disease

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

Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinemic hypoglycemia.

E. Mayatepek, C. Bergmann, H. Christesen, 2020, Clinical endocrinology.

OP-NDTJ210220 1..16

G. Remuzzi, K. Dahan, C. Antignac, 2021 .

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.

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

M. Attanasio, C. Bergmann, F. Schaefer, 2014, Journal of the American Society of Nephrology : JASN.

HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry

N. Ortiz-Brüchle, L. Weber, B. Tönshoff, 2019, Pediatric Nephrology.

Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1

C. Bergmann, K. Amann, B. Lange-Sperandio, 2018, Pediatric Nephrology.

Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome Due to a Mutation in CFH.

L. Weber, C. Bergmann, S. Habbig, 2016, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

Martin Lablans, Carsten Bergmann, Burkhard Tönshoff, 2017, Clinical journal of the American Society of Nephrology : CJASN.

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.

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

D. Misceo, H. Omran, N. Katsanis, 2020, Human mutation.

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

Carsten Bergmann, Martin Pohl, T. Eisenberger, 2014, Pediatric Nephrology.

Educational paper

C. Bergmann, 2011, European Journal of Pediatrics.

It's not all in the cilium, but on the road to it: genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter.

Carsten Bergmann, Ralf Weiskirchen, R. Weiskirchen, 2012, Journal of hepatology.

Recent advances in the molecular diagnosis of polycystic kidney disease

C. Bergmann, 2017, Expert review of molecular diagnostics.

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Carsten Bergmann, Peter Nürnberg, Ahmad Mansour, 2012, Orphanet Journal of Rare Diseases.

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Yang Wang, Monte Westerfield, Carsten Bergmann, 2014, Human mutation.

Autosomal-recessive polycystic kidney disease gets more complex.

C. Bergmann, 2013, Gastroenterology.

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.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

C. Bergmann, Steffen Neuber, V. Frank, 2020, Genetics in Medicine.

ANKS 6 is a central component of a nephronophthisis module linking NEK 8 to INVS and NPHP 3

Sophie, R. Roepman, N. Sebire, 2013 .

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.

C. Bergmann, V. Frank, H. Bolz, 2012, The Journal of investigative dermatology.

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

H. Fuchs, A. Köttgen, T. Meitinger, 2023, medRxiv.

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA

E. Bongers, M. Shenoy, R. Rodenburg, 2021, Journal of the American Society of Nephrology : JASN.

Novel Nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.

S. Saunier, R. Sandford, F. Hildebrandt, 2020, Kidney international.

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

C. Bergmann, R. Nievelstein, F. Beemer, 2005, American journal of medical genetics. Part A.

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

D. Sabatini, E. Schulze-Bahr, B. Schermer, 2021, bioRxiv.

Scaffold polarity proteins Par3A and Par3B share redundant functions while Par3B acts independent of atypical protein kinase C/Par6 in podocytes to maintain the kidney filtration barrier.

B. Schermer, T. Benzing, M. Höhne, 2021, Kidney international.

Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease

K. Devriendt, F. Jouret, B. Bammens, 2017, PLoS ONE.

Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin

T. Lindner, C. Bergmann, J. Halbritter, 2016, BMC Medical Genetics.

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

J. Lupski, J. Buchan, G. Pazour, 2022, Kidney international.

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

J. Sayer, C. Bergmann, Steffen Neuber, 2019, Urolithiasis.

The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development

F. Hildebrandt, G. Walz, C. Bergmann, 2018, The Journal of Biological Chemistry.

Advances in renal genetic diagnosis

C. Bergmann, 2017, Cell and Tissue Research.

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.

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.

S. Mane, F. Hildebrandt, C. Bergmann, 2019, Kidney international.

Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

H. Bolz, C. Neuhaus, C. Bergmann, 2015, British Journal of Ophthalmology.

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

C. Bergmann, J. Fischer, J. Halbritter, 2022, JHEP reports : innovation in hepatology.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.

K. Ormond, Y. Bombard, B. Peterlin, 2015, European journal of human genetics : EJHG.

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

J. Hurst, C. Bergmann, J. Wasserman, 2019, European journal of endocrinology.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)

A. Quattrone, M. Muglia, C. Bergmann, 2004, Neurology.

First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutations

C. Neuhaus, C. Bergmann, H. Bolz, 2013, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

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

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

Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.

M. Bihoreau, D. Gauguier, N. Gretz, 2008, European journal of medical genetics.

Comprehensive analysis of glomerular mRNA expression of pro- and antithrombotic genes in atypical haemolytic-uremic syndrome (aHUS)

A. Schwarz, C. Bergmann, H. Kreipe, 2013, Virchows Archiv.

University of Southern Denmark Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia Hoermann,

E. Mayatepek, C. Bergmann, H. Christesen, 2020 .

Advances in renal genetic diagnosis

C. Bergmann, 2017, Cell and Tissue Research.

AREGPKD - A European ARPKD Registry Study

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

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

D. Horn, C. Bergmann, E. Decker, 2018, American journal of medical genetics. Part A.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

B. Ertl-Wagner, H. Bolz, E. Boltshauser, 2016, European journal of medical genetics.

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005, Journal of Medical Genetics.

Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").

C. Bergmann, H. Bolz, Arif O. Khan, 2014, Journal of pediatric ophthalmology and strabismus.

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease

J. Drenth, C. Bergmann, T. Neuhaus, 2012, Pediatric nephrology (Berlin, West).

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.

The nucleoside kinase NME3 associates with nephronophthisis proteins, and is required for ciliary function during renal development

F. Hildebrandt, G. Walz, C. Bergmann, 2018 .

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

A. Köttgen, T. Ahluwalia, O. Gribouval, 2019, The Journal of clinical investigation.

Eculizumab as First-line Therapy for Atypical Hemolytic Uremic Syndrome Case Report

C. Bergmann, M. Christmann, J. Brand, 2022 .

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

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.

Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest

C. Bergmann, 2018, Nephron.

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.

S. Hooper, M. Braun, L. Wilkins-Haug, 2014, The Journal of pediatrics.