|
🦁
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Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family
16 auth.
K. Schlingmann,
S. Weber,
M. Peters,
L. N. Nejsum,
H. Vitzthum,
K. Klingel,
M. Kratz,
E. Haddad,
E. Ristoff,
D. Dinour,
...
M. Syrrou,
S. Nielsen,
M. Sassen,
S. Waldegger,
H. Seyberth,
M. Konrad
|
9 |
2002 |
9
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|
|
🦁
|
Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
17 auth.
K. Schlingmann,
M. Kaufmann,
S. Weber,
Andrew Irwin,
Caroline Goos,
U. John,
J. Misselwitz,
G. Klaus,
E. Kuwertz-Bröking,
H. Fehrenbach,
...
A. Wingen,
T. Güran,
J. Hoenderop,
R. Bindels,
D. Prosser,
Glenville Jones,
M. Konrad
|
9 |
2011 |
9
🦁
|
|
🐜
|
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
23 auth.
M. Konrad,
A. Schaller,
D. Seelow,
A. Pandey,
S. Waldegger,
Annegret Lesslauer,
H. Vitzthum,
Yoshiro Suzuki,
J. Luk,
C. Becker,
...
K. Schlingmann,
Marcel Schmid,
J. Rodríguez-soriano,
G. Ariceta,
Francisco Cano,
R. Enríquez,
H. Jűppner,
S. Bakkaloğlu,
M. Hediger,
S. Gallati,
S. Neuhauss,
P. Nurnberg,
S. Weber
|
8 |
2006 |
8
🐜
|
|
🦁
|
TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.
K. Schlingmann,
S. Waldegger,
M. Konrad,
V. Chubanov,
T. Gudermann
|
8 |
2007 |
8
🦁
|
|
🦁
|
Salt wasting and deafness resulting from mutations in two chloride channels.
8 auth.
K. Schlingmann,
M. Konrad,
N. Jeck,
Petra Waldegger,
S. Reinalter,
M. Holder,
...
H. Seyberth,
S. Waldegger
|
7 |
2004 |
7
🦁
|
|
🐜
|
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
25 auth.
Julien H. Park,
Max Hogrebe,
M. Grüneberg,
Ingrid DuChesne,
Ava L. von der Heiden,
J. Reunert,
K. Schlingmann,
K. Boycott,
C. Beaulieu,
A. Mhanni,
A. Innes,
K. Hörtnagel,
S. Biskup,
E. Gleixner,
G. Kurlemann,
...
B. Fiedler,
H. Omran,
F. Rutsch,
Y. Wada,
K. Tsiakas,
R. Santer,
D. Nebert,
D. Nebert,
S. Rust,
T. Marquardt
|
7 |
2015 |
7
🐜
|
|
🐬
|
Insights into the molecular nature of magnesium homeostasis.
M. Konrad,
K. Schlingmann,
T. Gudermann
|
7 |
2004 |
7
🐬
|
|
🦁
|
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
28 auth.
K. Schlingmann,
Justyna Ruminska,
M. Kaufmann,
I. Dursun,
M. Patti,
B. Kranz,
E. Pronicka,
E. Ciara,
T. Akçay,
D. Buluş,
E. Cornelissen,
A. Gawlik,
P. Sikora,
L. Patzer,
M. Galiano,
...
V. Boyadzhiev,
M. Dumić,
A. Vivante,
R. Kleta,
B. Dekel,
E. Levtchenko,
R. Bindels,
S. Rust,
I. Forster,
N. Hernando,
Glenville Jones,
C. Wagner,
M. Konrad
|
7 |
2016 |
7
🦁
|
|
🐜
|
Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD.
14 auth.
M. Kaufmann,
J. C. Gallagher,
M. Peacock,
K. Schlingmann,
M. Konrad,
H. F. Deluca,
R. Sigueiro,
Borja Lopez,
A. Mouriño,
M. Maestro,
...
R. St-Arnaud,
J. Finkelstein,
Donald P. Cooper,
Glenville Jones
|
7 |
2014 |
7
🐜
|
|
🐢
|
Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects
H. Seyberth,
K. Schlingmann
|
7 |
2011 |
7
🐢
|
|
🦁
|
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.
17 auth.
K. Schlingmann,
M. Sassen,
S. Weber,
U. Pechmann,
K. Kusch,
L. Pelken,
D. Lotan,
M. Syrrou,
J. Prebble,
D. Cole,
...
D. Metzger,
S. Rahman,
T. Tajima,
S. Shu,
S. Waldegger,
H. W. Seyberth,
M. Konrad
|
7 |
2005 |
7
🦁
|
