Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M, NEOCYST consortium (2022)

In: Kidney International Reports, 7(9).

Research article (journal)

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 (2011)

In: American Journal of Human Genetics, 89(5).

Research article (journal)

CYP24A1 Mutations in Idiopathic Infantile Hypercalcemia REPLY

Schlingmann KarlP, Jones Glenville, Konrad Martin (2011)

In: New England Journal of Medicine, 365(18).

Research article (journal)

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Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M, NEOCYST consortium (2022) In: Kidney International Reports, 7(9). Research article (journal)
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 (2011) In: New England Journal of Medicine, 365(5). Research article (journal)
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 (2011) In: American Journal of Human Genetics, 89(5). Research article (journal)
Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Seyberth HW, Schlingmann KP (2011) In: Pediatric Nephrology, 26(10). Research article (journal)
CYP24A1 Mutations in Idiopathic Infantile Hypercalcemia REPLY Schlingmann KarlP, Jones Glenville, Konrad Martin (2011) In: New England Journal of Medicine, 365(18). Research article (journal)
Genotype/phenotype correlation in FHHNC caused by mutations in either CLDN16 or CLDN19: long-term follow-up in 125 patients Haisch L, Schlingmann KP, Tasic V, Al-Attrach I, Cochat P, Sikora P, Ariceta G, Kari J, Dittrich K, Konrad M (2011) In: Pediatric Nephrology, 26(9). Research article (journal)