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Items: 1 to 50 of 60

1.

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.

Moens L, Gouwy M, Bosch B, Pastukhov O, Nieto-Patlàn A, Siler U, Bucciol G, Mekahli D, Vermeulen F, Desmet L, Maebe S, Flipts H, Corveleyn A, Moshous D, Philippet P, Tangye SG, Boisson B, Casanova JL, Florkin B, Struyf S, Reichenbach J, Bustamante J, Notarangelo LD, Meyts I.

J Clin Immunol. 2019 Mar 5. doi: 10.1007/s10875-019-00603-w. [Epub ahead of print]

PMID:
30838481
2.

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
3.

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.

4.

Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

Bucciol G, Moens L, Payne K, Wollants E, Mekahli D, Levtchenko E, Vermeulen F, Tousseyn T, Gray P, Ma CS, Tangye SG, Van Ranst M, Brown JR, Breuer J, Meyts I.

J Clin Immunol. 2018 Nov;38(8):938-939. doi: 10.1007/s10875-018-0570-3.

PMID:
30430354
5.

Copeptin in the Diagnosis of Diabetes Insipidus.

Mekahli D, Jouret F.

N Engl J Med. 2018 Nov 1;379(18):1784-5. doi: 10.1056/NEJMc1811694. No abstract available.

PMID:
30382699
6.

Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

Bucciol G, Moens L, Payne K, Wollants E, Mekahli D, Levtchenko E, Vermeulen F, Tousseyn T, Gray P, Ma CS, Tangye SG, Van Ranst M, Brown JR, Breuer J, Meyts I.

J Clin Immunol. 2018 Oct;38(7):748-752. doi: 10.1007/s10875-018-0558-z. Epub 2018 Oct 11. No abstract available. Erratum in: J Clin Immunol. 2018 Nov;38(8):938-939.

PMID:
30311057
7.

Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.

Weydert C, Decuypere JP, De Smedt H, Janssens P, Vennekens R, Mekahli D.

Pediatr Nephrol. 2018 Sep 13. doi: 10.1007/s00467-018-4057-5. [Epub ahead of print]

PMID:
30215095
8.

Renal Replacement Therapy in children with severe developmental disability: guiding questions for decision-making.

Willem L, Knops N, Mekahli D, Cochat P, Edefonti A, Verrina E, Groothoff J, Lagae L, Pirenne J, Dobbels F, Borry P, Van Geet C, Levtchenko E.

Eur J Pediatr. 2018 Dec;177(12):1735-1743. doi: 10.1007/s00431-018-3238-3. Epub 2018 Sep 7.

PMID:
30194525
9.

Simultaneous determination of allantoin and adenosine in human urine using liquid chromatography - UV detection.

Andries A, De Rechter S, Janssens P, Mekahli D, Van Schepdael A.

J Chromatogr B Analyt Technol Biomed Life Sci. 2018 Oct 1;1096:201-207. doi: 10.1016/j.jchromb.2018.08.026. Epub 2018 Aug 27.

PMID:
30176509
10.

Oxidative stress in chronic kidney disease.

Daenen K, Andries A, Mekahli D, Van Schepdael A, Jouret F, Bammens B.

Pediatr Nephrol. 2018 Aug 13. doi: 10.1007/s00467-018-4005-4. [Epub ahead of print] Review.

11.

Oxidative stress in autosomal dominant polycystic kidney disease: player and/or early predictor for disease progression?

Andries A, Daenen K, Jouret F, Bammens B, Mekahli D, Van Schepdael A.

Pediatr Nephrol. 2018 Aug 13. doi: 10.1007/s00467-018-4004-5. [Epub ahead of print]

12.

Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study.

Janssens P, Van Hoeve K, De Waele L, De Rechter S, Claes KJ, Van de Perre E, Wissing KM, Bammens B, Jansen A, Mekahli D.

Pediatr Nephrol. 2018 Nov;33(11):2085-2093. doi: 10.1007/s00467-018-4003-6. Epub 2018 Jul 9.

PMID:
29987458
13.

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.

14.

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
15.

Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.

Bucciol G, Cassiman D, Roskams T, Renard M, Hoffman I, Witters P, Schrijvers R, Schaballie H, Bosch B, Putti MC, Gheysens O, Knops N, Gewillig M, Mekahli D, Pirenne J, Meyts I.

Orphanet J Rare Dis. 2018 May 2;13(1):69. doi: 10.1186/s13023-018-0818-2.

16.

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.

PMID:
29674338
17.

Activation of Calcium-Sensing Receptor increases intracellular calcium and decreases cAMP and mTOR in PKD1 deficient cells.

Di Mise A, Tamma G, Ranieri M, Centrone M, van den Heuvel L, Mekahli D, Levtchenko EN, Valenti G.

Sci Rep. 2018 Apr 9;8(1):5704. doi: 10.1038/s41598-018-23732-5.

18.

Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?

De Rechter S, Breysem L, Mekahli D.

Front Pediatr. 2017 Dec 20;5:272. doi: 10.3389/fped.2017.00272. eCollection 2017. Review.

19.

3DUS as an alternative to MRI for measuring renal volume in children with autosomal dominant polycystic kidney disease.

Breysem L, De Rechter S, De Keyzer F, Smet MH, Bammens B, Van Dyck M, Hofmans M, Oyen R, Levtchenko E, Mekahli D.

Pediatr Nephrol. 2018 May;33(5):827-835. doi: 10.1007/s00467-017-3862-6. Epub 2018 Jan 6.

PMID:
29306987
20.

Evidence for Bone and Mineral Metabolism Alterations in Children With Autosomal Dominant Polycystic Kidney Disease.

De Rechter S, Bacchetta J, Godefroid N, Dubourg L, Cochat P, Maquet J, Raes A, De Schepper J, Vermeersch P, Van Dyck M, Levtchenko E, D'Haese P, Evenepoel P, Mekahli D.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):4210-4217. doi: 10.1210/jc.2017-01157.

PMID:
29092060
21.

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

De Rechter S, Kringen J, Janssens P, Liebau MC, Devriendt K, Levtchenko E, Bergmann C, Jouret F, Bammens B, Borry P, Schaefer F, Mekahli D.

PLoS One. 2017 Sep 29;12(9):e0185779. doi: 10.1371/journal.pone.0185779. eCollection 2017.

22.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
23.

Liver involvement in kidney disease and vice versa.

Van Hoeve K, Mekahli D, Morava E, Levtchenko E, Witters P.

Pediatr Nephrol. 2018 Jun;33(6):957-971. doi: 10.1007/s00467-017-3715-3. Epub 2017 Jun 23. Review.

PMID:
28646278
24.

Expanding the role of vasopressin antagonism in polycystic kidney diseases: From adults to children?

Janssens P, Weydert C, De Rechter S, Wissing KM, Liebau MC, Mekahli D.

Pediatr Nephrol. 2018 Mar;33(3):395-408. doi: 10.1007/s00467-017-3672-x. Epub 2017 Apr 28. Review.

PMID:
28455745
25.

Occurrence of atypical HUS associated with influenza B.

van Hoeve K, Vandermeulen C, Van Ranst M, Levtchenko E, van den Heuvel L, Mekahli D.

Eur J Pediatr. 2017 Apr;176(4):449-454. doi: 10.1007/s00431-017-2856-5. Epub 2017 Jan 21.

PMID:
28110418
26.

Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry.

Mekahli D, van Stralen KJ, Bonthuis M, Jager KJ, Balat A, Benetti E, Godefroid N, Edvardsson VO, Heaf JG, Jankauskiene A, Kerecuk L, Marinova S, Puteo F, Seeman T, Zurowska A, Pirenne J, Schaefer F, Groothoff JW; ESPN/ERA-EDTA Registry.

Am J Kidney Dis. 2016 Nov;68(5):782-788. doi: 10.1053/j.ajkd.2016.06.019. Epub 2016 Aug 21.

PMID:
27555106
27.

Rituximab in children with steroid-dependent nephrotic syndrome: experience of a tertiary center and review of the literature.

Van Horebeek I, Knops N, Van Dyck M, Levtchenko E, Mekahli D.

Acta Clin Belg. 2017 Jun;72(3):147-155. doi: 10.1080/17843286.2016.1208955. Epub 2016 Jul 13. Review.

PMID:
27409338
28.

The Case | Hypercalcemia in a child with chronic kidney disease.

De Rechter S, Levtchenko E, Evenepoel P, Mekahli D.

Kidney Int. 2016 Jul;90(1):233-4. doi: 10.1016/j.kint.2015.12.060. No abstract available.

PMID:
27312459
29.

Severe acute kidney injury as presentation of Burkitt's lymphoma.

ter Haar E, Labarque V, Tousseyn T, Mekahli D.

BMJ Case Rep. 2016 Apr 26;2016. pii: bcr2016214780. doi: 10.1136/bcr-2016-214780.

30.

Altered mTOR signalling in nephropathic cystinosis.

Ivanova EA, van den Heuvel LP, Elmonem MA, De Smedt H, Missiaen L, Pastore A, Mekahli D, Bultynck G, Levtchenko EN.

J Inherit Metab Dis. 2016 May;39(3):457-464. doi: 10.1007/s10545-016-9919-z. Epub 2016 Feb 24.

PMID:
26909499
31.

Development and validation of a CE-MS method for the targeted assessment of amino acids in urine.

Rodrigues KT, Mekahli D, Tavares MF, Van Schepdael A.

Electrophoresis. 2016 Apr;37(7-8):1039-47. doi: 10.1002/elps.201500534. Epub 2016 Feb 25.

PMID:
26826549
32.

Pediatric combined liver-kidney transplantation: a 2015 update.

Bacchetta J, Mekahli D, Rivet C, Demède D, Leclerc AL.

Curr Opin Organ Transplant. 2015 Oct;20(5):543-9. doi: 10.1097/MOT.0000000000000225. Review.

PMID:
26270957
33.

Autophagy in renal diseases.

De Rechter S, Decuypere JP, Ivanova E, van den Heuvel LP, De Smedt H, Levtchenko E, Mekahli D.

Pediatr Nephrol. 2016 May;31(5):737-52. doi: 10.1007/s00467-015-3134-2. Epub 2015 Jul 4. Review.

PMID:
26141928
34.

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Audrézet MP, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, Fischbach M, Zaloszyc A, Cloarec S, Merieau E, Baudouin V, Deschênes G, Roussey G, Maestri S, Visconti C, Boyer O, Abel C, Lahoche A, Randrianaivo H, Bessenay L, Mekahli D, Ouertani I, Decramer S, Ryckenwaert A, Cornec-Le Gall E, Salomon R, Ferec C, Heidet L.

J Am Soc Nephrol. 2016 Mar;27(3):722-9. doi: 10.1681/ASN.2014101051. Epub 2015 Jul 2.

35.

Simplified screening criteria for HNF1B analysis.

Raaijmakers AA, Mekahli D, Levtchenko EN.

Kidney Int. 2015 Jun;87(6):1258-9. doi: 10.1038/ki.2015.49. No abstract available.

PMID:
26024028
36.

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

Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group.

BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z.

37.

From skeletal to cardiovascular disease in 12 steps-the evolution of sclerostin as a major player in CKD-MBD.

Brandenburg VM, D'Haese P, Deck A, Mekahli D, Meijers B, Neven E, Evenepoel P.

Pediatr Nephrol. 2016 Feb;31(2):195-206. doi: 10.1007/s00467-015-3069-7. Epub 2015 Mar 4. Review.

PMID:
25735207
38.

Tuberous sclerosis complex: the past and the future.

De Waele L, Lagae L, Mekahli D.

Pediatr Nephrol. 2015 Oct;30(10):1771-80. doi: 10.1007/s00467-014-3027-9. Epub 2014 Dec 23. Review.

PMID:
25533384
39.

Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.

Raaijmakers A, Corveleyn A, Devriendt K, van Tienoven TP, Allegaert K, Van Dyck M, van den Heuvel L, Kuypers D, Claes K, Mekahli D, Levtchenko E.

Nephrol Dial Transplant. 2015 May;30(5):835-42. doi: 10.1093/ndt/gfu370. Epub 2014 Dec 13.

PMID:
25500806
40.

Charcot-Marie-Tooth: are you testing for proteinuria?

De Rechter S, De Waele L, Levtchenko E, Mekahli D.

Eur J Paediatr Neurol. 2015 Jan;19(1):1-5. doi: 10.1016/j.ejpn.2014.08.004. Epub 2014 Aug 28. Review.

PMID:
25439738
41.

Cystatin C in newborns: a promising renal biomarker in search for standardization and validation.

Allegaert K, Mekahli D, van den Anker J.

J Matern Fetal Neonatal Med. 2015;28(15):1833-8. doi: 10.3109/14767058.2014.969236. Epub 2014 Nov 5. Review.

42.

Population-specific serum creatinine centiles in neonates with posterior urethral valves already predict long-term renal outcome.

Lemmens AS, Mekahli D, Devlieger R, Levtchenko E, Allegaert K.

J Matern Fetal Neonatal Med. 2015 Jun;28(9):1026-31. doi: 10.3109/14767058.2014.942278. Epub 2014 Jul 28.

PMID:
25000449
43.

Paired measurement of urinary creatinine in neonates based on a Jaffe and an enzymatic IDMS-traceable assay.

Allegaert K, Vermeersch P, Smits A, Mekahli D, Levtchenko E, Pauwels S.

BMC Nephrol. 2014 Apr 15;15:62. doi: 10.1186/1471-2369-15-62.

44.

Evaluation of quality of life by young adult survivors of severe chronic kidney disease in infancy.

Mekahli D, Ledermann S, Gullett A, Rees L.

Pediatr Nephrol. 2014 Aug;29(8):1387-93. doi: 10.1007/s00467-014-2785-8. Epub 2014 Mar 7.

PMID:
24609826
45.

Enzymatic isotope dilution mass spectrometry (IDMS) traceable serum creatinine is preferable over Jaffe in neonates and young infants.

Allegaert K, Pauwels S, Smits A, Crèvecoeur K, van den Anker J, Mekahli D, Vermeersch P.

Clin Chem Lab Med. 2014 Jun;52(6):e107-9. doi: 10.1515/cclm-2013-1035. No abstract available.

PMID:
24399679
46.

An unusual presentation of Denys-Drash syndrome due to bigenic disease.

Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E.

Pediatrics. 2014 Jan;133(1):e252-6. doi: 10.1542/peds.2013-1524. Epub 2013 Dec 30.

PMID:
24379226
47.

Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.

Mekahli D, Decuypere JP, Sammels E, Welkenhuyzen K, Schoeber J, Audrezet MP, Corvelyn A, Dechênes G, Ong AC, Wilmer MJ, van den Heuvel L, Bultynck G, Parys JB, Missiaen L, Levtchenko E, De Smedt H.

Pflugers Arch. 2014 Aug;466(8):1591-604. doi: 10.1007/s00424-013-1394-x. Epub 2013 Nov 6.

PMID:
24193408
48.

From bone abnormalities to mineral metabolism dysregulation in autosomal dominant polycystic kidney disease.

Mekahli D, Bacchetta J.

Pediatr Nephrol. 2013 Nov;28(11):2089-96. doi: 10.1007/s00467-012-2384-5. Epub 2013 Jan 24. Review.

PMID:
23340856
49.

Polycystins and cellular Ca2+ signaling.

Mekahli D, Parys JB, Bultynck G, Missiaen L, De Smedt H.

Cell Mol Life Sci. 2013 Aug;70(15):2697-712. doi: 10.1007/s00018-012-1188-x. Epub 2012 Oct 18. Review.

50.

Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release.

Mekahli D, Sammels E, Luyten T, Welkenhuyzen K, van den Heuvel LP, Levtchenko EN, Gijsbers R, Bultynck G, Parys JB, De Smedt H, Missiaen L.

Cell Calcium. 2012 Jun;51(6):452-8. doi: 10.1016/j.ceca.2012.03.002. Epub 2012 Mar 27.

PMID:
22456092

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