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Items: 1 to 50 of 512

1.

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

Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Pozza SB, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J, Haffner D.

J Inherit Metab Dis. 2019 Jun 8. doi: 10.1002/jimd.12134. [Epub ahead of print]

PMID:
31177550
2.

Acyltransferase skinny hedgehog regulates TGFβ-dependent fibroblast activation in SSc.

Liang R, Kagwiria R, Zehender A, Dees C, Bergmann C, Ramming A, Krasowska D, Michalska-Jakubus M, Kreuter A, Kraner ME, Schett G, Distler JHW.

Ann Rheum Dis. 2019 Jun 8. pii: annrheumdis-2019-215066. doi: 10.1136/annrheumdis-2019-215066. [Epub ahead of print]

PMID:
31177096
3.

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

Schönauer R, Seidel A, Grohmann M, Lindner TH, Bergmann C, Halbritter J.

Front Genet. 2019 May 15;10:465. doi: 10.3389/fgene.2019.00465. eCollection 2019.

4.

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

Welters A, El-Khairi R, Dastamani A, Bachmann N, Bergmann C, Gilbert C, Clement E, Hurst J, Quercia N, Wasserman J, Meissner T, Shah P, Kummer S.

Eur J Endocrinol. 2019 May 1. pii: EJE-19-0119.R1. doi: 10.1530/EJE-19-0119. [Epub ahead of print]

PMID:
31137009
5.

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

Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F.

Nat Rev Nephrol. 2019 May 22. doi: 10.1038/s41581-019-0155-2. [Epub ahead of print] Review.

PMID:
31118499
6.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Schrezenmeier E, Budde K, Bergmann C.

N Engl J Med. 2019 May 23;380(21):2078. doi: 10.1056/NEJMc1903250. No abstract available.

PMID:
31116936
7.

Ansprechen auf Sulfonylharnstoff bei neonatalem Diabetes durch pathogene ZFP57 Variante.

Reinauer C, Bergmann C, Jonasson A, Soditt V, Mayatepek E, Meißner T, Kummer S.

Klin Padiatr. 2019 May 7. doi: 10.1055/a-0889-8307. [Epub ahead of print] No abstract available.

PMID:
31064016
8.

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

Ottlewski I, Münch J, Wagner T, Schönauer R, Bachmann A, Weimann A, Hentschel J, Lindner TH, Seehofer D, Bergmann C, Jamra RA, Halbritter J.

Kidney Int. 2019 Mar 15. pii: S0085-2538(19)30187-5. doi: 10.1016/j.kint.2019.01.038. [Epub ahead of print]

PMID:
31027891
9.

A Meta-Analysis of Infants' Mispronunciation Sensitivity Development.

Von Holzen K, Bergmann C.

Cogsci. 2018 Jul;2018:1157-1162.

10.

Medical students' perceptions of stress due to academic studies and its interrelationships with other domains of life: a qualitative study.

Bergmann C, Muth T, Loerbroks A.

Med Educ Online. 2019 Dec;24(1):1603526. doi: 10.1080/10872981.2019.1603526.

11.

[Auditory processing disorder: Our experience with questionnaires].

Koch T, Bergmann C, Ptok M.

Laryngorhinootologie. 2019 Jun;98(6):413-420. doi: 10.1055/a-0881-2937. Epub 2019 Apr 16. German.

PMID:
30990562
12.

Fibroblast growth factor receptor 4 single nucleotide polymorphism Gly388Arg in head and neck carcinomas.

Wimmer E, Ihrler S, Gires O, Streit S, Issing W, Bergmann C.

World J Clin Oncol. 2019 Mar 24;10(3):136-148. doi: 10.5306/wjco.v10.i3.136.

13.

Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis.

Beltran S, Nassif M, Vicencio E, Arcos J, Labrador L, Cortes BI, Cortez C, Bergmann CA, Espinoza S, Hernandez MF, Matamala JM, Bargsted L, Matus S, Rojas-Rivera D, Bertrand MJM, Medinas DB, Hetz C, Manque PA, Woehlbier U.

Mol Neurodegener. 2019 Mar 27;14(1):14. doi: 10.1186/s13024-019-0313-9.

14.

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

Janchevska A, Tasic V, Laban N, Polenakovic M, Gucev Z, Bachmann N, Bergmann C.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2018 Dec 1;39(2-3):131-135. doi: 10.2478/prilozi-2018-0052.

PMID:
30864369
15.

Increased dermal expression of chromatin-associated protein HMGB1 and concomitant T-cell expression of the DNA RAGE in patients with psoriasis vulgaris.

Strohbuecker L, Koenen H, van Rijssen E, van Cranenbroek B, Fasse E, Joosten I, Körber A, Bergmann C.

Psoriasis (Auckl). 2019 Feb 12;9:7-17. doi: 10.2147/PTT.S190507. eCollection 2019.

16.

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

Schönauer R, Petzold F, Lucinescu W, Seidel A, Müller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J.

Urolithiasis. 2019 Feb 23. doi: 10.1007/s00240-019-01116-2. [Epub ahead of print]

PMID:
30798342
17.

Detection of Enterobius vermicularis in greater Berlin, 2007-2017: seasonality and increased frequency of detection.

Friesen J, Bergmann C, Neuber R, Fuhrmann J, Wenzel T, Durst A, Müller M, Ignatius R.

Eur J Clin Microbiol Infect Dis. 2019 Apr;38(4):719-723. doi: 10.1007/s10096-019-03495-1. Epub 2019 Feb 2.

PMID:
30712227
18.

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.

Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S.

Pediatr Nephrol. 2019 Jun;34(6):1065-1075. doi: 10.1007/s00467-018-4188-8. Epub 2019 Jan 21.

PMID:
30666461
19.

AllergoOncology: Microbiota in allergy and cancer-A European Academy for Allergy and Clinical Immunology position paper.

Untersmayr E, Bax HJ, Bergmann C, Bianchini R, Cozen W, Gould HJ, Hartmann K, Josephs DH, Levi-Schaffer F, Penichet ML, O'Mahony L, Poli A, Redegeld FA, Roth-Walter F, Turner MC, Vangelista L, Karagiannis SN, Jensen-Jarolim E.

Allergy. 2019 Jun;74(6):1037-1051. doi: 10.1111/all.13718. Epub 2019 Mar 6.

PMID:
30636005
20.

Fine Tuning the Cytokine Storm by IFN and IL-10 Following Neurotropic Coronavirus Encephalomyelitis.

Savarin C, Bergmann CC.

Front Immunol. 2018 Dec 20;9:3022. doi: 10.3389/fimmu.2018.03022. eCollection 2018. Review.

21.

Polycystic kidney disease.

Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE.

Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. Review.

PMID:
30523303
22.

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

Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK.

J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171.

PMID:
30517737
23.

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

Bergmann C.

Nephron. 2019;141(1):50-60. doi: 10.1159/000493532. Epub 2018 Oct 25. Review.

24.

Dynamics of Virus-Specific Memory B Cells and Plasmablasts following Viral Infection of the Central Nervous System.

Atkinson JR, Hwang M, Reyes-Rodriguez A, Bergmann CC.

J Virol. 2019 Jan 4;93(2). pii: e00875-18. doi: 10.1128/JVI.00875-18. Print 2019 Jan 15.

25.

Novel causative variants in patients with achromatopsia.

Abdelkader E, Brandau O, Bergmann C, AlSalamah N, Nowilaty S, Schatz P.

Ophthalmic Genet. 2018 Dec;39(6):678-683. doi: 10.1080/13816810.2018.1522653. Epub 2018 Oct 5.

PMID:
30289319
26.

Intercellular Communication Is Key for Protective IFNα/β Signaling During Viral Central Nervous System Infection.

Hwang M, Bergmann CC.

Viral Immunol. 2019 Jan/Feb;32(1):1-6. doi: 10.1089/vim.2018.0101. Epub 2018 Sep 15. Review.

PMID:
30222502
27.

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

Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B, Brockmann K.

J Med Genet. 2019 Apr;56(4):261-264. doi: 10.1136/jmedgenet-2018-105470. Epub 2018 Aug 17.

PMID:
30120217
28.

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

Hoff S, Epting D, Falk N, Schroda S, Braun DA, Halbritter J, Hildebrandt F, Kramer-Zucker A, Bergmann C, Walz G, Lienkamp SS.

J Biol Chem. 2018 Sep 28;293(39):15243-15255. doi: 10.1074/jbc.RA117.000847. Epub 2018 Aug 15.

29.

The tyrosine phosphatase SHP2 controls TGFβ-induced STAT3 signaling to regulate fibroblast activation and fibrosis.

Zehender A, Huang J, Györfi AH, Matei AE, Trinh-Minh T, Xu X, Li YN, Chen CW, Lin J, Dees C, Beyer C, Gelse K, Zhang ZY, Bergmann C, Ramming A, Birchmeier W, Distler O, Schett G, Distler JHW.

Nat Commun. 2018 Aug 14;9(1):3259. doi: 10.1038/s41467-018-05768-3.

30.

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

Spartà G, Gaspert A, Neuhaus TJ, Weitz M, Mohebbi N, Odermatt U, Zipfel PF, Bergmann C, Laube GF.

Clin Kidney J. 2018 Aug;11(4):479-490. doi: 10.1093/ckj/sfy006. Epub 2018 Feb 28.

31.

Mucosal melanoma of the cranio-facial region: Surgical challenges and therapeutic options.

Thierauf J, Glück AM, Plinkert P, Veit JA, Hoffmann TK, Körber A, Bergmann C.

Auris Nasus Larynx. 2019 Apr;46(2):252-259. doi: 10.1016/j.anl.2018.07.009. Epub 2018 Aug 3.

PMID:
30082161
32.

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

Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P.

Ophthalmic Genet. 2018 Oct;39(5):659-661. doi: 10.1080/13816810.2018.1498526. Epub 2018 Aug 1. No abstract available.

PMID:
30067413
33.

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

Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA.

Eur J Hum Genet. 2018 Dec;26(12):1791-1796. doi: 10.1038/s41431-018-0212-5. Epub 2018 Jul 12.

34.

The posttraumatic activation of CD4+ T regulatory cells is modulated by TNFR2- and TLR4-dependent pathways, but not by IL-10.

Bock M, Bergmann CB, Jung S, Kalbitz M, Relja B, Huber-Wagner S, Biberthaler P, van Griensven M, Hanschen M.

Cell Immunol. 2018 Sep;331:137-145. doi: 10.1016/j.cellimm.2018.06.009. Epub 2018 Jun 22.

PMID:
29954581
35.

Distinct Gene Profiles of Bone Marrow-Derived Macrophages and Microglia During Neurotropic Coronavirus-Induced Demyelination.

Savarin C, Dutta R, Bergmann CC.

Front Immunol. 2018 Jun 11;9:1325. doi: 10.3389/fimmu.2018.01325. eCollection 2018.

36.

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

Rinschen MM, Gödel M, Grahammer F, Zschiedrich S, Helmstädter M, Kretz O, Zarei M, Braun DA, Dittrich S, Pahmeyer C, Schroder P, Teetzen C, Gee H, Daouk G, Pohl M, Kuhn E, Schermer B, Küttner V, Boerries M, Busch H, Schiffer M, Bergmann C, Krüger M, Hildebrandt F, Dengjel J, Benzing T, Huber TB.

Cell Rep. 2018 May 22;23(8):2495-2508. doi: 10.1016/j.celrep.2018.04.059.

37.

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

Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium.

J Pediatr. 2018 Aug;199:22-28.e6. doi: 10.1016/j.jpeds.2018.03.052. Epub 2018 May 9.

PMID:
29753540
38.

Promoting Replicability in Developmental Research Through Meta-analyses: Insights From Language Acquisition Research.

Bergmann C, Tsuji S, Piccinini PE, Lewis ML, Braginsky M, Frank MC, Cristia A.

Child Dev. 2018 Nov;89(6):1996-2009. doi: 10.1111/cdev.13079. Epub 2018 May 7.

39.

Blockade of sustained tumor necrosis factor in a transgenic model of progressive autoimmune encephalomyelitis limits oligodendrocyte apoptosis and promotes oligodendrocyte maturation.

Valentin-Torres A, Savarin C, Barnett J, Bergmann CC.

J Neuroinflammation. 2018 Apr 24;15(1):121. doi: 10.1186/s12974-018-1164-y.

40.

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

Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J.

Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8.

PMID:
29688594
41.

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

Eichinger A, Ponsel S, Bergmann C, Günthner R, Hoefele J, Amann K, Lange-Sperandio B.

Pediatr Nephrol. 2018 Jul;33(7):1269-1272. doi: 10.1007/s00467-018-3961-z. Epub 2018 Apr 16.

PMID:
29663071
42.

Alpha/Beta Interferon (IFN-α/β) Signaling in Astrocytes Mediates Protection against Viral Encephalomyelitis and Regulates IFN-γ-Dependent Responses.

Hwang M, Bergmann CC.

J Virol. 2018 Apr 27;92(10). pii: e01901-17. doi: 10.1128/JVI.01901-17. Print 2018 May 15.

43.

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

Bergmann C.

Front Pediatr. 2018 Feb 9;5:221. doi: 10.3389/fped.2017.00221. eCollection 2017. Review.

44.

Plasma cell-free DNA methylation: a liquid biomarker of hepatic fibrosis.

Yiğit B, Boyle M, Özler O, Erden N, Tutucu F, Hardy T, Bergmann C, Distler JHW, Adalı G, Dayangaç M, Mann DA, Zeybel M, Mann J.

Gut. 2018 Oct;67(10):1907-1908. doi: 10.1136/gutjnl-2017-315668. Epub 2018 Jan 20. No abstract available.

45.

Treating C3 glomerulopathy with eculizumab.

Welte T, Arnold F, Kappes J, Seidl M, Häffner K, Bergmann C, Walz G, Neumann-Haefelin E.

BMC Nephrol. 2018 Jan 12;19(1):7. doi: 10.1186/s12882-017-0802-4.

46.

Protein kinases G are essential downstream mediators of the antifibrotic effects of sGC stimulators.

Matei AE, Beyer C, Györfi AH, Soare A, Chen CW, Dees C, Bergmann C, Ramming A, Friebe A, Hofmann F, Distler O, Schett G, Distler JHW.

Ann Rheum Dis. 2018 Mar;77(3):459. doi: 10.1136/annrheumdis-2017-212489. Epub 2018 Jan 8.

PMID:
29311148
47.

Effect of nanostructured zirconium dioxide incorporation in an experimental adhesive resin.

Provenzi C, Collares FM, Cuppini M, Samuel SMW, Alves AK, Bergmann CP, Leitune VCB.

Clin Oral Investig. 2018 Jul;22(6):2209-2218. doi: 10.1007/s00784-017-2311-z. Epub 2018 Jan 5.

PMID:
29305689
48.

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

Deshwar AR, Dupuis L, Bergmann C, Stavropoulos J, Mendoza-Londono R.

Am J Med Genet A. 2018 Feb;176(2):450-454. doi: 10.1002/ajmg.a.38570. Epub 2017 Dec 22.

PMID:
29271572
49.

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

Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C.

Am J Med Genet A. 2018 Feb;176(2):438-442. doi: 10.1002/ajmg.a.38562. Epub 2017 Dec 22.

PMID:
29271569
50.

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.

Münch J, Bachmann A, Grohmann M, Mayer C, Kirschfink M, Lindner TH, Bergmann C, Halbritter J.

Clin Kidney J. 2017 Dec;10(6):742-746. doi: 10.1093/ckj/sfx053. Epub 2017 Jul 10.

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