|
🐜
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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
🐜
|
|
🐜
|
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
🐢
|
|
🦁
|
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
8 auth.
S. Weber,
O. Gribouval,
Ernie L. Esquivel,
V. Moriniére,
M. Tête,
C. Legendre,
...
P. Niaudet,
C. Antignac
|
8 |
2004 |
8
🦁
|
|
🦁
|
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
16 auth.
S. Weber,
V. Moriniére,
Tanja Knüppel,
M. Charbit,
J. Dušek,
G. Ghiggeri,
A. Jankauskienė,
S. Mir,
G. Montini,
A. Peco‐Antić,
...
E. Wühl,
A. Zurowska,
O. Mehls,
C. Antignac,
F. Schaefer,
R. Salomon
|
8 |
2006 |
8
🦁
|
|
🐜
|
Resolution of inflammation by interleukin-9-producing type 2 innate lymphoid cells
25 auth.
S. Rauber,
M. Luber,
S. Weber,
Lisa Maul,
A. Soare,
T. Wohlfahrt,
N. Lin,
Katharina Dietel,
A. Bozec,
M. Herrmann,
M. Kaplan,
B. Weigmann,
M. Zaiss,
U. Fearon,
D. Veale,
...
J. Cañete,
O. Distler,
F. Rivellese,
C. Pitzalis,
M. Neurath,
A. McKenzie,
S. Wirtz,
G. Schett,
J. Distler,
A. Ramming
|
7 |
2017 |
7
🐜
|
|
🦁
|
SIX2 and BMP4 mutations associate with anomalous kidney development.
18 auth.
S. Weber,
James C. Taylor,
P. Winyard,
K. Baker,
Jessica Sullivan-Brown,
Raphael Schild,
Tanja Knüppel,
A. Zurowska,
Alberto Caldas-Alfonso,
M. Litwin,
...
S. Emre,
G. Ghiggeri,
A. Bakkaloğlu,
O. Mehls,
C. Antignac,
Escape Network,
F. Schaefer,
R. Burdine
|
7 |
2008 |
7
🦁
|
|
🐬
|
Mutations in the Chloride Channel Gene, CLCNKB, Leading to a Mixed Bartter-Gitelman Phenotype
N. Jeck,
M. Konrad,
M. Peters,
S. Weber,
K. Bonzel,
H. Seyberth
|
7 |
2000 |
7
🐬
|
|
🐜
|
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
14 auth.
A. Büscher,
B. Kranz,
R. Büscher,
F. Hildebrandt,
B. Dworniczak,
P. Pennekamp,
E. Kuwertz-Bröking,
A. Wingen,
U. John,
M. Kemper,
...
L. Monnens,
P. Hoyer,
S. Weber,
M. Konrad
|
7 |
2010 |
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
🐜
|
|
🐜
|
SPI1/PU.1 controls fibroblast polarization and tissue fibrosis
34 auth.
T. Wohlfahrt,
S. Rauber,
S. Uebe,
M. Luber,
A. Soare,
A. Ekici,
S. Weber,
A. Matei,
Chih-Wei Chen,
C. Maier,
E. Karouzakis,
H. Kiener,
E. Pachera,
C. Dees,
C. Beyer,
...
C. Daniel,
K. Gelse,
A. Kremer,
E. Naschberger,
M. Stürzl,
F. Butter,
M. Sticherling,
S. Finotto,
A. Kreuter,
M. Kaplan,
A. Jüngel,
S. Gay,
S. Nutt,
D. Boykin,,
G. Poon,
O. Distler,
G. Schett,
J. Distler,
A. Ramming
|
6 |
2019 |
6
🐜
|
