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Items: 48

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.

Juvenile onset IIH and CYP24A1 mutations.

Schlingmann KP, Cassar W, Konrad M.

Bone Rep. 2018 Jun 21;9:42-46. doi: 10.1016/j.bonr.2018.06.005. eCollection 2018 Dec.

3.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.

Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.

4.

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.

van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF.

Nephron. 2018;139(4):359-366. doi: 10.1159/000488954. Epub 2018 May 23.

5.

QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.

Gödiker J, Grüneberg M, DuChesne I, Reunert J, Rust S, Westermann C, Wada Y, Classen G, Langhans CD, Schlingmann KP, Rodenburg RJ, Pohlmann R, Marquardt T.

J Hum Genet. 2018 Jun;63(6):707-716. doi: 10.1038/s10038-018-0442-y. Epub 2018 Apr 4.

PMID:
29618761
6.

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN).

Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16.

7.

Genetic Diseases of Vitamin D Metabolizing Enzymes.

Jones G, Kottler ML, Schlingmann KP.

Endocrinol Metab Clin North Am. 2017 Dec;46(4):1095-1117. doi: 10.1016/j.ecl.2017.07.011. Epub 2017 Oct 5. Review.

PMID:
29080636
8.

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D, Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M, Schlingmann KP, Litwin M.

J Appl Genet. 2017 Aug;58(3):349-353. doi: 10.1007/s13353-017-0397-2. Epub 2017 May 3.

9.

Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients.

Kaufmann M, Morse N, Molloy BJ, Cooper DP, Schlingmann KP, Molin A, Kottler ML, Gallagher JC, Armas L, Jones G.

J Bone Miner Res. 2017 Jul;32(7):1589-1596. doi: 10.1002/jbmr.3135. Epub 2017 Apr 21.

10.

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.

N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.

11.

A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.

Altıncık A, Schlingmann KP, Tosun MS.

J Clin Res Pediatr Endocrinol. 2016 Mar 5;8(1):101-4. doi: 10.4274/jcrpe.2254. Epub 2015 Dec 18.

12.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T.

Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003.

13.

Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.

Jobst-Schwan T, Pannes A, Schlingmann KP, Eckardt KU, Beck BB, Wiesener MS.

Kidney Blood Press Res. 2015;40(5):443-51. doi: 10.1159/000368520. Epub 2015 Aug 22. Review.

14.

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.

Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M.

J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5.

15.

Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.

Sikora P, Zaniew M, Haisch L, Pulcer B, Szczepańska M, Moczulska A, Rogowska-Kalisz A, Bieniaś B, Tkaczyk M, Ostalska-Nowicka D, Zachwieja K, Hyla-Klekot L, Schlingmann KP, Konrad M.

Nephrol Dial Transplant. 2015 Apr;30(4):636-44. doi: 10.1093/ndt/gfu374. Epub 2014 Dec 3.

PMID:
25477417
16.

Inherited disorders of renal hypomagnesaemia.

Konrad M, Schlingmann KP.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv63-71. doi: 10.1093/ndt/gfu198. Review.

PMID:
25165187
17.

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C.

J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3.

18.

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG.

PLoS Genet. 2014 Apr 3;10(4):e1004267. doi: 10.1371/journal.pgen.1004267. eCollection 2014 Apr.

19.

Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD.

Kaufmann M, Gallagher JC, Peacock M, Schlingmann KP, Konrad M, DeLuca HF, Sigueiro R, Lopez B, Mourino A, Maestro M, St-Arnaud R, Finkelstein JS, Cooper DP, Jones G.

J Clin Endocrinol Metab. 2014 Jul;99(7):2567-74. doi: 10.1210/jc.2013-4388. Epub 2014 Mar 26.

20.

A lifetime of hypercalcemia and hypercalciuria, finally explained.

Jacobs TP, Kaufman M, Jones G, Kumar R, Schlingmann KP, Shapses S, Bilezikian JP.

J Clin Endocrinol Metab. 2014 Mar;99(3):708-12. doi: 10.1210/jc.2013-3802. Epub 2014 Jan 13. Review.

21.

The case | hypercalcemia in a 60-year-old male.

Helmuth A, Konrad M, Schlingmann KP, Pasch A.

Kidney Int. 2014 Jan;85(1):219-21. doi: 10.1038/ki.2013.184. No abstract available.

22.

New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.

Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG.

Eur J Hum Genet. 2014 Apr;22(4):497-504. doi: 10.1038/ejhg.2013.178. Epub 2013 Aug 14.

23.

Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.

Skalova S, Cerna L, Bayer M, Kutilek S, Konrad M, Schlingmann KP.

Iran J Kidney Dis. 2013 Mar;7(2):160-4.

24.

Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.

Fencl F, Bláhová K, Schlingmann KP, Konrad M, Seeman T.

Eur J Pediatr. 2013 Jan;172(1):45-9. doi: 10.1007/s00431-012-1818-1. Epub 2012 Sep 22.

PMID:
23001465
25.

Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation.

Habeb AM, Al-Harbi H, Schlingmann KP.

Saudi J Kidney Dis Transpl. 2012 Sep;23(5):1038-42. doi: 10.4103/1319-2442.100945.

26.

Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy.

Nair AV, Hocher B, Verkaart S, van Zeeland F, Pfab T, Slowinski T, Chen YP, Schlingmann KP, Schaller A, Gallati S, Bindels RJ, Konrad M, Hoenderop JG.

Proc Natl Acad Sci U S A. 2012 Jul 10;109(28):11324-9. doi: 10.1073/pnas.1113811109. Epub 2012 Jun 25.

27.

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS.

Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007.

28.

Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M.

N Engl J Med. 2011 Aug 4;365(5):410-21. doi: 10.1056/NEJMoa1103864. Epub 2011 Jun 15.

29.

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.

Guran T, Akcay T, Bereket A, Atay Z, Turan S, Haisch L, Konrad M, Schlingmann KP.

Nephrol Dial Transplant. 2012 Feb;27(2):667-73. doi: 10.1093/ndt/gfr300. Epub 2011 Jun 9.

PMID:
21669885
30.

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

Seyberth HW, Schlingmann KP.

Pediatr Nephrol. 2011 Oct;26(10):1789-802. doi: 10.1007/s00467-011-1871-4. Epub 2011 Apr 19. Review.

31.

The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.

Haisch L, Almeida JR, Abreu da Silva PR, Schlingmann KP, Konrad M.

Am J Kidney Dis. 2011 Feb;57(2):320-30. doi: 10.1053/j.ajkd.2010.08.038. Epub 2010 Dec 24.

PMID:
21186073
32.

Plasma cells and nonplasma B cells express differing IgE repertoires in allergic sensitization.

Rogosch T, Kerzel S, Sikula L, Gentil K, Liebetruth M, Schlingmann KP, Maier RF, Zemlin M.

J Immunol. 2010 May 1;184(9):4947-54. doi: 10.4049/jimmunol.0900859. Epub 2010 Apr 2.

33.

Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.

Tabatabaeifar M, Schlingmann KP, Litwin M, Emre S, Bakkaloglu A, Mehls O, Antignac C, Schaefer F, Weber S; ESCAPE Trial Group.

Pediatr Nephrol. 2009 Dec;24(12):2361-8. doi: 10.1007/s00467-009-1287-6. Epub 2009 Aug 14.

PMID:
19685083
34.
35.

TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.

Schlingmann KP, Waldegger S, Konrad M, Chubanov V, Gudermann T.

Biochim Biophys Acta. 2007 Aug;1772(8):813-21. Epub 2007 Apr 3. Review.

36.

Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6.

Chubanov V, Schlingmann KP, Wäring J, Heinzinger J, Kaske S, Waldegger S, Mederos y Schnitzler M, Gudermann T.

J Biol Chem. 2007 Mar 9;282(10):7656-67. Epub 2006 Dec 29.

37.

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S.

Am J Hum Genet. 2006 Nov;79(5):949-57. Epub 2006 Sep 19.

38.

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M.

J Am Soc Nephrol. 2005 Oct;16(10):3061-9. Epub 2005 Aug 17.

39.

Essential role for TRPM6 in epithelial magnesium transport and body magnesium homeostasis.

Chubanov V, Gudermann T, Schlingmann KP.

Pflugers Arch. 2005 Oct;451(1):228-34. Epub 2005 Jun 17. Review.

PMID:
16075242
40.

Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.

Weber S, Mir S, Schlingmann KP, Nürnberg G, Becker C, Kara PE, Ozkayin N, Konrad M, Nürnberg P, Schaefer F.

Pediatr Nephrol. 2005 Aug;20(8):1036-42. Epub 2005 May 24.

PMID:
15912376
41.

A critical role of TRPM channel-kinase for human magnesium transport.

Schlingmann KP, Gudermann T.

J Physiol. 2005 Jul 15;566(Pt 2):301-8. Epub 2005 Apr 21. Review.

42.

Salt handling in the distal nephron: lessons learned from inherited human disorders.

Jeck N, Schlingmann KP, Reinalter SC, Kömhoff M, Peters M, Waldegger S, Seyberth HW.

Am J Physiol Regul Integr Comp Physiol. 2005 Apr;288(4):R782-95. Review.

43.

Salt wasting and deafness resulting from mutations in two chloride channels.

Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S.

N Engl J Med. 2004 Mar 25;350(13):1314-9. No abstract available.

44.

Insights into the molecular nature of magnesium homeostasis.

Konrad M, Schlingmann KP, Gudermann T.

Am J Physiol Renal Physiol. 2004 Apr;286(4):F599-605. Review.

45.

Genetics of hereditary disorders of magnesium homeostasis.

Schlingmann KP, Konrad M, Seyberth HW.

Pediatr Nephrol. 2004 Jan;19(1):13-25. Epub 2003 Nov 22. Review.

PMID:
14634861
46.

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.

Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP, Seyberth HW, Waldegger S, Konrad M.

Kidney Int. 2003 Sep;64(3):923-32.

47.

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M.

Nat Genet. 2002 Jun;31(2):166-70. Epub 2002 May 28.

PMID:
12032568
48.

Primary gene structure and expression studies of rodent paracellin-1.

Weber S, Schlingmann KP, Peters M, Nejsum LN, Nielsen S, Engel H, Grzeschik KH, Seyberth HW, Gröne HJ, Nüsing R, Konrad M.

J Am Soc Nephrol. 2001 Dec;12(12):2664-72.

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