Carsten Bergmann

Carsten Bergmann

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Carsten Bergmann

Publications by authors named "Carsten Bergmann"

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

Urolithiasis 2019 Dec 23;47(6):511-519. Epub 2019 Feb 23.

Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Liebigstr. 20, 04103, Leipzig, Germany.

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http://dx.doi.org/10.1007/s00240-019-01116-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825645PMC
December 2019

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

Mol Genet Metab Rep 2019 Dec 18;21:100514. Epub 2019 Sep 18.

Screening Center, Bavarian Health and Food Safety Authority (LGL), Veterinaerstrasse 2, 85764 Oberschleissheim, Germany.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796768PMC
December 2019

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

BMC Nephrol 2019 Sep 2;20(1):340. Epub 2019 Sep 2.

Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Liebigstr, 2004103, Leipzig, Germany.

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http://dx.doi.org/10.1186/s12882-019-1523-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721183PMC
September 2019

Ansprechen auf Sulfonylharnstoff bei neonatalem Diabetes durch pathogene ZFP57 Variante.

Klin Padiatr 2019 Jul 7;231(4):225-226. Epub 2019 May 7.

Department of General Pediatrics, University Children's Hospital Duesseldorf, Duesseldorf.

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http://dx.doi.org/10.1055/a-0889-8307DOI Listing
July 2019

Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med 2019 05;380(21):2078

University Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1056/NEJMc1903250DOI Listing
May 2019

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

Eur J Endocrinol 2019 May 1. Epub 2019 May 1.

S Kummer, Department of General Paediatrics, Neonatology and Paediatric Cardiology, Medical Faculty, University Children's Hospital Duesseldorf, Duesseldorf, Germany.

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http://dx.doi.org/10.1530/EJE-19-0119DOI Listing
May 2019

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

Front Genet 2019 15;10:465. Epub 2019 May 15.

Division of Nephrology, University Hospital Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.3389/fgene.2019.00465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530248PMC
May 2019

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

J Med Genet 2019 Apr 17;56(4):261-264. Epub 2018 Aug 17.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105470
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http://dx.doi.org/10.1136/jmedgenet-2018-105470DOI Listing
April 2019

Novel causative variants in patients with achromatopsia.

Ophthalmic Genet 2018 12 5;39(6):678-683. Epub 2018 Oct 5.

e King Khaled Eye Specialist Hospital , Vitreoretinal Division , Riyadh , Saudi Arabia.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1522653DOI Listing
December 2018

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

J Natl Cancer Inst 2018 12;110(12):1328-1341

QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

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http://dx.doi.org/10.1093/jnci/djy171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292796PMC
December 2018

Polycystic kidney disease.

Nat Rev Dis Primers 2018 12 6;4(1):50. Epub 2018 Dec 6.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1038/s41572-018-0047-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6592047PMC
December 2018

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

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2018 Dec;39(2-3):131-135

Center for Human Genetics, Bioscientia Institute for Medical Diagnostics Ingelheim, Germany.

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http://dx.doi.org/10.2478/prilozi-2018-0052DOI Listing
December 2018

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

Ophthalmic Genet 2018 10 1;39(5):659-661. Epub 2018 Aug 1.

a Vitreoretinal Division , King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia.

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http://dx.doi.org/10.1080/13816810.2018.1498526DOI Listing
October 2018

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

J Biol Chem 2018 09 15;293(39):15243-15255. Epub 2018 Aug 15.

From the Department of Medicine, Renal Division, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany,

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http://www.jbc.org/lookup/doi/10.1074/jbc.RA117.000847
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http://dx.doi.org/10.1074/jbc.RA117.000847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166740PMC
September 2018

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

Pediatr Nephrol 2018 07 16;33(7):1269-1272. Epub 2018 Apr 16.

Dr. v. Hauner Children's Hospital, Division of Pediatric Nephrology, Ludwig-Maximilians University, Lindwurmstraße 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1007/s00467-018-3961-zDOI Listing
July 2018

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

Cell Rep 2018 05;23(8):2495-2508

III. Department of Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Department of Medicine IV, Medical Center and Faculty of Medicine, University of Freiburg, 79110 Freiburg, Germany; Freiburg Institute for Advanced Studies (FRIAS), University of Freiburg, 79104 Freiburg, Germany; Center for Systems Biology (ZBSA), Albert Ludwigs University, 79104 Freiburg, Germany; BIOSS Centre for Biological Signaling Studies, Albert Ludwigs University Freiburg, 79104 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.04.059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986710PMC
May 2018

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

Am J Med Genet A 2018 02 22;176(2):450-454. Epub 2017 Dec 22.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.38570
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http://dx.doi.org/10.1002/ajmg.a.38570DOI Listing
February 2018

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses.

Authors:
Carsten Bergmann

Front Pediatr 2017 9;5:221. Epub 2018 Feb 9.

Center for Human Genetics, Bioscientia, Ingelheim, Germany.

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http://dx.doi.org/10.3389/fped.2017.00221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811498PMC
February 2018

Treating C3 glomerulopathy with eculizumab.

BMC Nephrol 2018 01 12;19(1). Epub 2018 Jan 12.

Department of Nephrology, Medical Center-University of Freiburg, Germany, Hugstetter Strasse 55, 79106, Freiburg, Germany.

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http://dx.doi.org/10.1186/s12882-017-0802-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767001PMC
January 2018

Recent advances in the molecular diagnosis of polycystic kidney disease.

Authors:
Carsten Bergmann

Expert Rev Mol Diagn 2017 12 16;17(12):1037-1054. Epub 2017 Nov 16.

a Center for Human Genetics , Bioscientia , Ingelheim , Germany.

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http://dx.doi.org/10.1080/14737159.2017.1386099DOI Listing
December 2017

Advances in renal genetic diagnosis.

Authors:
Carsten Bergmann

Cell Tissue Res 2017 07 9;369(1):93-104. Epub 2017 Jun 9.

Bioscientia Center for Human Genetics, Konrad-Adenauer-Strasse 17, 55218, Ingelheim, Germany.

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http://dx.doi.org/10.1007/s00441-017-2636-6DOI Listing
July 2017

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

BMC Med Genet 2016 Oct 12;17(1):73. Epub 2016 Oct 12.

Department of Internal Medicine, Division of Nephrology, University Clinic Leipzig, Liebigstrasse 20, 04103, Leipzig, Germany.

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http://dx.doi.org/10.1186/s12881-016-0336-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062827PMC
October 2016

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

Ophthalmic Genet 2016 09 8;37(3):290-3. Epub 2016 Feb 8.

c Center for Human Genetics, Bioscientia , Ingelheim , Germany.

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http://dx.doi.org/10.3109/13816810.2015.1066830DOI Listing
September 2016

Clinical utility gene card for: Meckel syndrome - update 2016.

Eur J Hum Genet 2016 08 20;24(8). Epub 2016 Apr 20.

Norio-Centre, Rinnekoti Foundation, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2016.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970697PMC
August 2016

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

Nephrol Dial Transplant 2016 07 4;31(7):1114-21. Epub 2016 May 4.

Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1093/ndt/gfw078DOI Listing
July 2016

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

Am J Kidney Dis 2016 Mar 23;67(3):532-3. Epub 2015 Dec 23.

University Children's Hospital Cologne, Cologne, Germany.

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http://dx.doi.org/10.1053/j.ajkd.2015.11.009DOI Listing
March 2016

LRP5 variants may contribute to ADPKD.

Eur J Hum Genet 2016 Feb 29;24(2):237-42. Epub 2015 Apr 29.

Department of Gastroenterology and Hepatology, Institute for Genetic & Metabolic Disease (IGMD), Radboud Institute for Molecular LifeSciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717208PMC
February 2016

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

Br J Ophthalmol 2016 Feb 10;100(2):209-15. Epub 2015 Jun 10.

Center for Human Genetics, Bioscientia, Ingelheim, Germany Institute of Human Genetics, University of Cologne, Cologne, Germany.

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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2015-3068
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http://dx.doi.org/10.1136/bjophthalmol-2015-306844DOI Listing
February 2016

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

Pediatr Nephrol 2015 Jun 10;30(6):1039-42. Epub 2015 Mar 10.

Pediatric Nephrology, Children's Hospital, University of Cologne, Kerpener Strasse 62, 50937, Cologne, Germany,

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http://link.springer.com/content/pdf/10.1007/s00467-015-3078
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http://link.springer.com/10.1007/s00467-015-3078-6
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http://dx.doi.org/10.1007/s00467-015-3078-6DOI Listing
June 2015

Tectonic gene mutations in patients with Joubert syndrome.

Eur J Hum Genet 2015 May 13;23(5):616-20. Epub 2014 Aug 13.

1] Center for Human Genetics Bioscientia, Ingelheim, Germany [2] Department of Nephrology & Center for Clinical Research, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402635PMC
May 2015

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

Gut 2015 Apr 26;64(4):688-90. Epub 2014 Sep 26.

Department of Gastroenterology & Hepatology, Radboudumc, Institute for Genetic and Metabolic Diseases, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/gutjnl-2014-308062DOI Listing
April 2015

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

Br J Ophthalmol 2015 Apr 23;99(4):488-92. Epub 2014 Oct 23.

Bioscientia Center for Human Genetics, Ingelheim, Germany Renal Division, Department of Medicine, University Medical Center Freiburg, Freiburg, Germany Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1136/bjophthalmol-2014-305836DOI Listing
April 2015

A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

Ophthalmic Genet 2015 Mar 5;36(1):79-84. Epub 2014 Dec 5.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia .

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http://dx.doi.org/10.3109/13816810.2014.985846DOI Listing
March 2015

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

Authors:
Carsten Bergmann

Pediatr Nephrol 2015 Jan 1;30(1):15-30. Epub 2014 Mar 1.

Center for Human Genetics, Bioscientia, Konrad-Adenauer-Str. 17, 55218, Ingelheim, Germany,

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http://link.springer.com/10.1007/s00467-013-2706-2
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http://dx.doi.org/10.1007/s00467-013-2706-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240914PMC
January 2015

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

Br J Ophthalmol 2014 Dec 4;98(12):1724-8. Epub 2014 Jul 4.

Bioscientia Center for Human Genetics, Ingelheim, Germany Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2014-3051
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http://dx.doi.org/10.1136/bjophthalmol-2014-305122DOI Listing
December 2014

Transcriptional complexity in autosomal recessive polycystic kidney disease.

Clin J Am Soc Nephrol 2014 Oct 7;9(10):1729-36. Epub 2014 Aug 7.

Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Human Genetics, RWTH Aachen University, Aachen, Germany; and Renal Division, Department of Medicine, University Freiburg Medical Center, Freiburg, Germany

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http://dx.doi.org/10.2215/CJN.00920114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186505PMC
October 2014

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

J Am Soc Nephrol 2014 Aug 7;25(8):1653-61. Epub 2014 Mar 7.

Nephrogenetics Laboratory, andPediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey; Hacettepe University Center for Biobanking and Genomics, Ankara, Turkey

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http://dx.doi.org/10.1681/ASN.2013060646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116054PMC
August 2014

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

J Pediatr Ophthalmol Strabismus 2014 Jul 16;51 Online:e51-4. Epub 2014 Jul 16.

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http://dx.doi.org/10.3928/01913913-20140709-04DOI Listing
July 2014

Eculizumab as first-line therapy for atypical hemolytic uremic syndrome.

Pediatrics 2014 Jun;133(6):e1759-63

Klinik für Kinder- und Jugendmedizin, Pädiatrische Intensivstation, Goethe-Universität, Frankfurt/Main, Germany;

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http://dx.doi.org/10.1542/peds.2013-1787DOI Listing
June 2014

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

J AAPOS 2014 Apr;18(2):134-9

Center of Human Genetics, Bioscientia, Ingelheim, Germany; Department of Nephrology & Center for Clinical Research, University Hospital Freiburg, Germany.

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http://dx.doi.org/10.1016/j.jaapos.2013.11.012DOI Listing
April 2014

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

J AAPOS 2014 Apr;18(2):203-5

Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Nephrology & Center for Clinical Research, University Hospital Freiburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S10918531140006
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http://dx.doi.org/10.1016/j.jaapos.2013.11.016DOI Listing
April 2014

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

Proc Natl Acad Sci U S A 2014 Apr 24;111(14):5343-8. Epub 2014 Mar 24.

Departments of Gastroenterology and Hepatology and Human Genetics and Center for Molecular and Biomolecular Informatics, Institute for Genetic and Metabolic Disease, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1073/pnas.1309438111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986119PMC
April 2014

Ruptured cerebral aneurysm and acute bilateral carotid artery dissection in a patient with polycystic kidney disease and polycystic liver disease.

Cerebrovasc Dis 2013 10;35(6):590-1. Epub 2013 Jul 10.

Department of Neurology, Klinikum Kassel, Kassel, Germany.

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http://dx.doi.org/10.1159/000350727DOI Listing
March 2014

First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations.

J Neuroophthalmol 2013 Dec;33(4):349-53

Neuro-Ophthalmology Division (AG-R), King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia; Center for Human Genetics (CN, CB, HB), Bioscientia, Ingelheim Germany; Center for Clinical Research (CB), University Hospital of Freiburg, Freiburg, Germany; and Institute of Human Genetics (HB), University Hospital of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1097/WNO.0b013e31829ffb9aDOI Listing
December 2013

Extended mutation spectrum of Usher syndrome in Finland.

Acta Ophthalmol 2013 Jun 8;91(4):325-34. Epub 2012 Jun 8.

The Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1111/j.1755-3768.2012.02397.xDOI Listing
June 2013

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

Transpl Int 2013 Jun 15;26(6):640-50. Epub 2013 Apr 15.

Department of Pediatrics, Pediatric Gastroenterology and Hepatology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1111/tri.12098DOI Listing
June 2013

A de novo GLI3 mutation in a patient with acrocallosal syndrome.

Am J Med Genet A 2013 Jun 30;161A(6):1394-400. Epub 2013 Apr 30.

Department of Obstetrics and Gynecology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35874DOI Listing
June 2013

Autosomal-recessive polycystic kidney disease gets more complex.

Authors:
Carsten Bergmann

Gastroenterology 2013 May 22;144(5):1155-6. Epub 2013 Mar 22.

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http://dx.doi.org/10.1053/j.gastro.2013.02.046DOI Listing
May 2013

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

Nephrol Dial Transplant 2012 Nov;27(11):4236-40

Department of Pediatric Nephrology, University Children's Hospital, Essen, Germany.

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http://dx.doi.org/10.1093/ndt/gfs468DOI Listing
November 2012

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

J Invest Dermatol 2012 Oct 14;132(10):2473-2476. Epub 2012 Jun 14.

Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Human Genetics, RWTH Aachen University, Aachen, Germany; Center for Clinical Research, University Hospital Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2012.146DOI Listing
October 2012

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

Pediatr Nephrol 2012 Jul 14;27(7):1197-200. Epub 2012 Mar 14.

Children's Hospital Lucerne, 6000, Lucerne, Switzerland.

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http://dx.doi.org/10.1007/s00467-012-2137-5DOI Listing
July 2012

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.

J Hepatol 2012 May 28;56(5):1201-3. Epub 2011 Nov 28.

Bioscientia, Center for Human Genetics, Ingelheim, Germany.

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http://dx.doi.org/10.1016/j.jhep.2011.10.014DOI Listing
May 2012