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Items: 1 to 50 of 638

1.

Isolated nocturnal and isolated daytime hypertension associate with altered cardiovascular morphology and function in children with chronic kidney disease: findings from the Cardiovascular Comorbidity in Children with Chronic Kidney Disease study.

Düzova A, Karabay Bayazit A, Canpolat N, Niemirska A, Kaplan Bulut I, Azukaitis K, Karagoz T, Oguz B, Erdem S, Anarat A, Ranchin B, Shroff R, Djukic M, Harambat J, Yilmaz A, Yildiz N, Ozcakar B, Büscher A, Lugani F, Wygoda S, Tschumi S, Zaloszyc A, Jankauskiene A, Laube G, Galiano M, Kirchner M, Querfeld U, Melk A, Schaefer F, Wühl E; 4C Study Consortium.

J Hypertens. 2019 Jun 12. doi: 10.1097/HJH.0000000000002160. [Epub ahead of print]

PMID:
31205198
2.

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC.

Sci Rep. 2019 May 28;9(1):7919. doi: 10.1038/s41598-019-43488-w.

3.

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
4.

Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial.

Schaefer F, Mekahli D, Emma F, Gilbert RD, Bockenhauer D, Cadnapaphornchai MA, Shi L, Dandurand A, Sikes K, Shoaf SE.

Eur J Pediatr. 2019 Jul;178(7):1013-1021. doi: 10.1007/s00431-019-03384-x. Epub 2019 May 3.

PMID:
31053954
5.

Uremic Toxin Concentrations are Related to Residual Kidney Function in the Pediatric Hemodialysis Population.

Snauwaert E, Holvoet E, Van Biesen W, Raes A, Glorieux G, Vande Walle J, Roels S, Vanholder R, Askiti V, Azukaitis K, Bayazit A, Canpolat N, Fischbach M, Godefroid N, Krid S, Litwin M, Obrycki L, Paglialonga F, Ranchin B, Samaille C, Schaefer F, Schmitt CP, Spasojevic B, Stefanidis CJ, Van Dyck M, Van Hoeck K, Collard L, Eloot S, Shroff R.

Toxins (Basel). 2019 Apr 24;11(4). pii: E235. doi: 10.3390/toxins11040235.

6.

Vascular Access Choice, Complications, and Outcomes in Children on Maintenance Hemodialysis: Findings From the International Pediatric Hemodialysis Network (IPHN) Registry.

Borzych-Duzalka D, Shroff R, Ariceta G, Yap YC, Paglialonga F, Xu H, Kang HG, Thumfart J, Aysun KB, Stefanidis CJ, Fila M, Sever L, Vondrak K, Szabo AJ, Szczepanska M, Ranchin B, Holtta T, Zaloszyc A, Bilge I, Warady BA, Schaefer F, Schmitt CP.

Am J Kidney Dis. 2019 Apr 19. pii: S0272-6386(19)30616-X. doi: 10.1053/j.ajkd.2019.02.014. [Epub ahead of print]

PMID:
31010601
7.

Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children.

Azukaitis K, Ju W, Kirchner M, Nair V, Smith M, Fang Z, Thurn-Valsassina D, Bayazit A, Niemirska A, Canpolat N, Bulut IK, Yalcinkaya F, Paripovic D, Harambat J, Cakar N, Alpay H, Lugani F, Mencarelli F, Civilibal M, Erdogan H, Gellermann J, Vidal E, Tabel Y, Gimpel C, Ertan P, Yavascan O, Melk A, Querfeld U, Wühl E, Kretzler M, Schaefer F; 4C Study; ESCAPE Trial Group.

Kidney Int. 2019 Jul;96(1):214-221. doi: 10.1016/j.kint.2019.01.035. Epub 2019 Mar 20.

PMID:
31005273
8.

Peritoneal Dialysis Vintage and Glucose Exposure but Not Peritonitis Episodes Drive Peritoneal Membrane Transformation During the First Years of PD.

Bartosova M, Schaefer B, Vondrak K, Sallay P, Taylan C, Cerkauskiene R, Dzierzega M, Milosevski-Lomic G, Büscher R, Zaloszyc A, Romero P, Lasitschka F, Warady BA, Schaefer F, Ujszaszi A, Schmitt CP.

Front Physiol. 2019 Apr 2;10:356. doi: 10.3389/fphys.2019.00356. eCollection 2019.

9.

Acute dialysis in children: results of a European survey.

Guzzo I, de Galasso L, Mir S, Bulut IK, Jankauskiene A, Burokiene V, Cvetkovic M, Kostic M, Bayazit AK, Yildizdas D, Schmitt CP, Paglialonga F, Montini G, Yilmaz E, Oh J, Weber L, Taylan C, Hayes W, Shroff R, Vidal E, Murer L, Mencarelli F, Pasini A, Teixeira A, Afonso AC, Drozdz D, Schaefer F, Picca S; ESCAPE Network.

J Nephrol. 2019 Jun;32(3):445-451. doi: 10.1007/s40620-019-00606-1. Epub 2019 Apr 4.

PMID:
30949986
10.

Different treatment strategies for acromioclavicular dislocation injuries: a nationwide survey on open/minimally invasive and arthroscopic concepts.

Allemann F, Halvachizadeh S, Waldburger M, Schaefer F, Pothmann C, Pape HC, Rauer T.

Eur J Med Res. 2019 Mar 23;24(1):18. doi: 10.1186/s40001-019-0376-7. Review.

11.

Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network.

Schaefer F, Benner L, Borzych-Dużałka D, Zaritsky J, Xu H, Rees L, Antonio ZL, Serdaroglu E, Hooman N, Patel H, Sever L, Vondrak K, Flynn J, Rébori A, Wong W, Hölttä T, Yildirim ZY, Ranchin B, Grenda R, Testa S, Drożdz D, Szabo AJ, Eid L, Basu B, Vitkevic R, Wong C, Pottoore SJ, Müller D, Dusunsel R, Celedon CG, Fila M, Sartz L, Sander A, Warady BA; International Pediatric Peritoneal Dialysis Network (IPPN) Registry.

Sci Rep. 2019 Mar 20;9(1):4886. doi: 10.1038/s41598-018-36975-z.

12.

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS.

Kidney Int. 2019 May;95(5):1138-1152. doi: 10.1016/j.kint.2018.11.040. Epub 2019 Mar 8.

13.

NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli.

Lipska-Ziętkiewicz BS, Schaefer F.

Am J Kidney Dis. 2019 Jun;73(6):890-892. doi: 10.1053/j.ajkd.2019.01.015. Epub 2019 Mar 12. No abstract available.

PMID:
30876747
14.

A Smart Imaging Workflow for Organ-Specific Screening in a Cystic Kidney Zebrafish Disease Model.

Pandey G, Westhoff JH, Schaefer F, Gehrig J.

Int J Mol Sci. 2019 Mar 14;20(6). pii: E1290. doi: 10.3390/ijms20061290.

15.

Effects of Hemodiafiltration versus Conventional Hemodialysis in Children with ESKD: The HDF, Heart and Height Study.

Shroff R, Smith C, Ranchin B, Bayazit AK, Stefanidis CJ, Askiti V, Azukaitis K, Canpolat N, Ağbaş A, Aitkenhead H, Anarat A, Aoun B, Aofolaju D, Bakkaloglu SA, Bhowruth D, Borzych-Dużałka D, Bulut IK, Büscher R, Deanfield J, Dempster C, Duzova A, Habbig S, Hayes W, Hegde S, Krid S, Licht C, Litwin M, Mayes M, Mir S, Nemec R, Obrycki L, Paglialonga F, Picca S, Samaille C, Shenoy M, Sinha MD, Spasojevic B, Stronach L, Vidal E, Vondrák K, Yilmaz A, Zaloszyc A, Fischbach M, Schmitt CP, Schaefer F.

J Am Soc Nephrol. 2019 Apr;30(4):678-691. doi: 10.1681/ASN.2018100990. Epub 2019 Mar 7.

PMID:
30846560
16.

Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.

Ricci P, Magalhães P, Krochmal M, Pejchinovski M, Daina E, Caruso MR, Goea L, Belczacka I, Remuzzi G, Umbhauer M, Drube J, Pape L, Mischak H, Decramer S, Schaefer F, Schanstra JP, Cereghini S, Zürbig P.

Sci Rep. 2019 Feb 18;9(1):2225. doi: 10.1038/s41598-019-38713-5.

17.

Treatment and long-term outcome in primary distal renal tubular acidosis.

Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium , Kleta R, Schaefer F, Bockenhauer D.

Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409.

PMID:
30773598
18.

Urinary acute kidney injury biomarkers in very low-birth-weight infants on indomethacin for patent ductus arteriosus.

Waldherr S, Fichtner A, Beedgen B, Bruckner T, Schaefer F, Tönshoff B, Pöschl J, Westhoff TH, Westhoff JH.

Pediatr Res. 2019 Apr;85(5):678-686. doi: 10.1038/s41390-019-0332-9. Epub 2019 Feb 11.

PMID:
30745571
19.

Methods of Computational Analysis in Kidney Development.

Tikka P, Schaefer F.

Methods Mol Biol. 2019;1926:235-246. doi: 10.1007/978-1-4939-9021-4_19.

PMID:
30742276
20.

Pediatric intradialytic hypotension: recommendations from the Pediatric Continuous Renal Replacement Therapy (PCRRT) Workgroup.

Raina R, Lam S, Raheja H, Krishnappa V, Hothi D, Davenport A, Chand D, Kapur G, Schaefer F, Sethi SK, McCulloch M, Bagga A, Bunchman T, Warady BA.

Pediatr Nephrol. 2019 May;34(5):925-941. doi: 10.1007/s00467-018-4190-1. Epub 2019 Feb 8.

PMID:
30734850
21.

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.

Gimpel C, Avni EF, Breysem L, Burgmaier K, Caroli A, Cetiner M, Haffner D, Hartung EA, Franke D, König J, Liebau MC, Mekahli D, Ong ACM, Pape L, Titieni A, Torra R, Winyard PJD, Schaefer F.

Radiology. 2019 Mar;290(3):769-782. doi: 10.1148/radiol.2018181243. Epub 2019 Jan 1.

PMID:
30599104
22.

Hemodialysis vascular access and subsequent transplantation: a report from the ESPN/ERA-EDTA Registry.

Boehm M, Bonthuis M, Noordzij M, Harambat J, Groothoff JW, Melgar ÁA, Buturovic J, Dusunsel R, Fila M, Jander A, Koster-Kamphuis L, Novljan G, Ortega PJ, Paglialonga F, Saravo MT, Stefanidis CJ, Aufricht C, Jager KJ, Schaefer F.

Pediatr Nephrol. 2019 Apr;34(4):713-721. doi: 10.1007/s00467-018-4129-6. Epub 2018 Dec 26.

23.

Unmet needs and challenges for follow-up and treatment of autosomal dominant polycystic kidney disease: the paediatric perspective.

De Rechter S, Bammens B, Schaefer F, Liebau MC, Mekahli D.

Clin Kidney J. 2018 Dec;11(Suppl 1):i14-i26. doi: 10.1093/ckj/sfy088. Epub 2018 Dec 17. Review.

24.

A randomized, double-blind, placebo-controlled study to assess the efficacy and safety of cinacalcet in pediatric patients with chronic kidney disease and secondary hyperparathyroidism receiving dialysis.

Warady BA, Iles JN, Ariceta G, Dehmel B, Hidalgo G, Jiang X, Laskin B, Shahinfar S, Vande Walle J, Schaefer F.

Pediatr Nephrol. 2019 Mar;34(3):475-486. doi: 10.1007/s00467-018-4116-y. Epub 2018 Nov 30.

PMID:
30506144
25.

Cardiovascular risk factors in children on dialysis: an update.

Querfeld U, Schaefer F.

Pediatr Nephrol. 2018 Oct 31. doi: 10.1007/s00467-018-4125-x. [Epub ahead of print]

PMID:
30382333
26.

Chronic dialysis in children and adolescents: challenges and outcomes.

Rees L, Schaefer F, Schmitt CP, Shroff R, Warady BA.

Lancet Child Adolesc Health. 2017 Sep;1(1):68-77. doi: 10.1016/S2352-4642(17)30018-4. Epub 2017 Jul 20. Review.

PMID:
30169229
27.

Genetic associations of hemoglobin in children with chronic kidney disease in the PediGFR Consortium.

Atkinson MA, Xiao R, Köttgen A, Wühl E, Wong CS, Wuttke M, Bayazit AK, Çalişkan S, Warady BA, Schaefer F, Furth SL.

Pediatr Res. 2019 Feb;85(3):324-328. doi: 10.1038/s41390-018-0148-z. Epub 2018 Aug 15.

28.

Effect of haemodiafiltration vs conventional haemodialysis on growth and cardiovascular outcomes in children - the HDF, heart and height (3H) study.

Shroff R, Bayazit A, Stefanidis CJ, Askiti V, Azukaitis K, Canpolat N, Agbas A, Anarat A, Aoun B, Bakkaloglu S, Bhowruth D, Borzych-Dużałka D, Bulut IK, Büscher R, Dempster C, Duzova A, Habbig S, Hayes W, Hegde S, Krid S, Licht C, Litwin M, Mayes M, Mir S, Nemec R, Obrycki L, Paglialonga F, Picca S, Ranchin B, Samaille C, Shenoy M, Sinha M, Smith C, Spasojevic B, Vidal E, Vondrák K, Yilmaz A, Zaloszyc A, Fischbach M, Schaefer F, Schmitt CP.

BMC Nephrol. 2018 Aug 10;19(1):199. doi: 10.1186/s12882-018-0998-y.

29.

Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry.

Trautmann A, Lipska-Ziętkiewicz BS, Schaefer F.

Front Pediatr. 2018 Jul 17;6:200. doi: 10.3389/fped.2018.00200. eCollection 2018. Review.

30.

Outrageous prices of orphan drugs: a call for collaboration.

Luzzatto L, Hyry HI, Schieppati A, Costa E, Simoens S, Schaefer F, Roos JCP, Merlini G, Kääriäinen H, Garattini S, Hollak CE, Remuzzi G; Second Workshop on Orphan Drugs participants.

Lancet. 2018 Sep 1;392(10149):791-794. doi: 10.1016/S0140-6736(18)31069-9. Epub 2018 Jul 20. No abstract available.

PMID:
30037734
31.

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, Melchionda S, Fischetto R, Giordano M, Murer L.

Eur J Hum Genet. 2018 Nov;26(11):1708-1712. doi: 10.1038/s41431-018-0213-4. Epub 2018 Jul 4.

PMID:
29973660
32.

Early Proteinuria Lowering by Angiotensin-Converting Enzyme Inhibition Predicts Renal Survival in Children with CKD.

van den Belt SM, Heerspink HJL, Gracchi V, de Zeeuw D, Wühl E, Schaefer F; ESCAPE Trial Group.

J Am Soc Nephrol. 2018 Aug;29(8):2225-2233. doi: 10.1681/ASN.2018010036. Epub 2018 Jun 21.

PMID:
29930161
33.

Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice.

Burgmaier K, Brandt J, Shroff R, Witters P, Weber LT, Dötsch J, Schaefer F, Mekahli D, Liebau MC.

Front Pediatr. 2018 Jun 4;6:164. doi: 10.3389/fped.2018.00164. eCollection 2018.

34.

Efficacy of Rituximab vs Tacrolimus in Pediatric Corticosteroid-Dependent Nephrotic Syndrome: A Randomized Clinical Trial.

Basu B, Sander A, Roy B, Preussler S, Barua S, Mahapatra TKS, Schaefer F.

JAMA Pediatr. 2018 Aug 1;172(8):757-764. doi: 10.1001/jamapediatrics.2018.1323.

35.

Hemodiafiltration is associated with reduced inflammation, oxidative stress and improved endothelial risk profile compared to high-flux hemodialysis in children.

Ağbaş A, Canpolat N, Çalışkan S, Yılmaz A, Ekmekçi H, Mayes M, Aitkenhead H, Schaefer F, Sever L, Shroff R.

PLoS One. 2018 Jun 18;13(6):e0198320. doi: 10.1371/journal.pone.0198320. eCollection 2018.

36.

Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome.

Schaefer F, Ardissino G, Ariceta G, Fakhouri F, Scully M, Isbel N, Lommelé Å, Kupelian V, Gasteyger C, Greenbaum LA, Johnson S, Ogawa M, Licht C, Vande Walle J, Frémeaux-Bacchi V; Global aHUS Registry.

Kidney Int. 2018 Aug;94(2):408-418. doi: 10.1016/j.kint.2018.02.029. Epub 2018 Jun 19.

PMID:
29907460
37.

Intimal and medial arterial changes defined by ultra-high-frequency ultrasound: Response to changing risk factors in children with chronic kidney disease.

Dangardt F, Charakida M, Chiesa S, Bhowruth D, Rapala A, Thurn D, Schaefer F, Deanfield J, Shroff R.

PLoS One. 2018 Jun 14;13(6):e0198547. doi: 10.1371/journal.pone.0198547. eCollection 2018.

38.

Validating the use of bioimpedance spectroscopy for assessment of fluid status in children.

Dasgupta I, Keane D, Lindley E, Shaheen I, Tyerman K, Schaefer F, Wühl E, Müller MJ, Bosy-Westphal A, Fors H, Dahlgren J, Chamney P, Wabel P, Moissl U.

Pediatr Nephrol. 2018 Sep;33(9):1601-1607. doi: 10.1007/s00467-018-3971-x. Epub 2018 Jun 4.

39.

Neutral pH and low-glucose degradation product dialysis fluids induce major early alterations of the peritoneal membrane in children on peritoneal dialysis.

Schaefer B, Bartosova M, Macher-Goeppinger S, Sallay P, Vörös P, Ranchin B, Vondrak K, Ariceta G, Zaloszyc A, Bayazit AK, Querfeld U, Cerkauskiene R, Testa S, Taylan C, VandeWalle J, Yap Y, Krmar RT, Büscher R, Mühlig AK, Drozdz D, Caliskan S, Lasitschka F, Fathallah-Shaykh S, Verrina E, Klaus G, Arbeiter K, Bhayadia R, Melk A, Romero P, Warady BA, Schaefer F, Ujszaszi A, Schmitt CP.

Kidney Int. 2018 Aug;94(2):419-429. doi: 10.1016/j.kint.2018.02.022.

PMID:
29776755
40.

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
41.

Prevalence of Hypertension in Children with Early-Stage ADPKD.

Massella L, Mekahli D, Paripović D, Prikhodina L, Godefroid N, Niemirska A, Ağbaş A, Kalicka K, Jankauskiene A, Mizerska-Wasiak M, Afonso AC, Salomon R, Deschênes G, Ariceta G, Özçakar ZB, Teixeira A, Duzova A, Harambat J, Seeman T, Hrčková G, Lungu AC, Papizh S, Peco-Antic A, De Rechter S, Giordano U, Kirchner M, Lutz T, Schaefer F, Devuyst O, Wühl E, Emma F.

Clin J Am Soc Nephrol. 2018 Jun 7;13(6):874-883. doi: 10.2215/CJN.11401017. Epub 2018 Apr 19.

42.

Estimating Time to ESRD in Children With CKD.

Furth SL, Pierce C, Hui WF, White CA, Wong CS, Schaefer F, Wühl E, Abraham AG, Warady BA; Chronic Kidney Disease in Children (CKiD); Effect of Strict Blood Pressure Control and ACE Inhibition on the Progression of CRF in Pediatric Patients (ESCAPE) Study Investigators.

Am J Kidney Dis. 2018 Jun;71(6):783-792. doi: 10.1053/j.ajkd.2017.12.011. Epub 2018 Apr 10. Erratum in: Am J Kidney Dis. 2019 May 22;:.

43.

pH-mediated upregulation of AQP1 gene expression through the Spi-B transcription factor.

Zhai Y, Xu H, Shen Q, Schaefer F, Schmitt CP, Chen J, Liu H, Liu J, Liu J.

BMC Mol Biol. 2018 Mar 20;19(1):4. doi: 10.1186/s12867-018-0104-9.

44.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.

Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.

45.

Effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease.

Lerch C, Shroff R, Wan M, Rees L, Aitkenhead H, Kaplan Bulut I, Thurn D, Karabay Bayazit A, Niemirska A, Canpolat N, Duzova A, Azukaitis K, Yilmaz E, Yalcinkaya F, Harambat J, Kiyak A, Alpay H, Habbig S, Zaloszyc A, Soylemezoglu O, Candan C, Rosales A, Melk A, Querfeld U, Leifheit-Nestler M, Sander A, Schaefer F, Haffner D; 4C study consortium ; ESPN CKD-MBD working group .

Nephrol Dial Transplant. 2018 Dec 1;33(12):2208-2217. doi: 10.1093/ndt/gfy012.

PMID:
29481636
46.

Comparison of Two Different Ultrasound Devices Using Strain Elastography Technology in the Diagnosis of Breast Lesions Related to the Histologic Results.

Farrokh A, Schaefer F, Degenhardt F, Maass N.

Ultrasound Med Biol. 2018 May;44(5):978-985. doi: 10.1016/j.ultrasmedbio.2018.01.015. Epub 2018 Feb 22.

PMID:
29477744
47.

Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).

Neirijnck Y, Reginensi A, Renkema KY, Massa F, Kozlov VM, Dhib H, Bongers EMHF, Feitz WF, van Eerde AM, Lefebvre V, Knoers NVAM, Tabatabaei M, Schulz H, McNeill H, Schaefer F, Wegner M, Sock E, Schedl A.

Kidney Int. 2018 May;93(5):1142-1153. doi: 10.1016/j.kint.2017.11.026. Epub 2018 Feb 17.

PMID:
29459093
48.

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D.

Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15.

PMID:
29398133
49.

Impact of graft loss among kidney diseases with a high risk of post-transplant recurrence in the paediatric population.

Van Stralen KJ, Verrina E, Belingheri M, Dudley J, Dušek J, Grenda R, Macher MA, Puretic Z, Rubic J, Rudaitis S, Rudin C, Schaefer F, Jager KJ; ESPN/ERA-EDTA Registry.

Nephrol Dial Transplant. 2018 Mar 1;33(3):542. doi: 10.1093/ndt/gfx372. No abstract available.

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Renal replacement therapy for children throughout the world: the need for a global registry.

Ploos van Amstel S, Noordzij M, Warady BA, Cano F, Craig JC, Groothoff JW, Ishikura K, Neu A, Safouh H, Xu H, Jager KJ, Schaefer F.

Pediatr Nephrol. 2018 May;33(5):863-871. doi: 10.1007/s00467-017-3863-5. Epub 2017 Dec 22.

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