|
🐜
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The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
120 auth.
Jingyuan Xie,
Lili Liu,
N. Mladkova,
Yifu Li,
H. Ren,
Weiming Wang,
Z. Cui,
Li Lin,
Xiaofan Hu,
Xialian Yu,
Jing Xu,
Gang Liu,
Y. Caliskan,
C. Sidore,
Olivia Balderes,
...
Raphael J. Rosen,
M. Bodria,
F. Zanoni,
Jun Y. Zhang,
Priya Krithivasan,
Karla Mehl,
M. Marasà,
Atlas Khan,
Fatih Ozay,
P. Canetta,
A. Bomback,
G. Appel,
S. Sanna-Cherchi,
M. Sampson,
L. Mariani,
A. Perkowska-Ptasinska,
M. Durlik,
K. Mucha,
Barbara Moszczuk,
B. Foroncewicz,
L. Pączek,
Ireneusz Habura,
E. Ars,
J. Ballarín,
Laila-Yasmin Mani,
B. Vogt,
S. Ozturk,
A. Yildiz,
N. Seyahi,
H. Arıkan,
M. Koç,
T. Basturk,
G. Karahan,
S. Akgul,
M. Sever,
Dan Zhang,
D. Santoro,
M. Bonomini,
F. Londrino,
L. Gesualdo,
J. Reiterová,
V. Tesar,
C. Izzi,
S. Savoldi,
D. Spotti,
C. Marcantoni,
P. Messa,
M. Galliani,
D. Roccatello,
S. Granata,
G. Zaza,
Francesca Lugani,
G. Ghiggeri,
I. Pisani,
L. Allegri,
B. Sprangers,
Jinho Park,
B. Cho,
Y. S. Kim,
D. K. Kim,
H. Suzuki,
A. Amoroso,
D. Cattran,
F. Fervenza,
A. Pani,
P. Hamilton,
S. Harris,
Sanjana Gupta,
C. Cheshire,
S. Dufek,
N. Issler,
R. Pepper,
J. Connolly,
S. Powis,
D. Bockenhauer,
H. Stanescu,
N. Ashman,
R. Loos,
E. Kenny,
M. Wuttke,
K. Eckardt,
A. Köttgen,
J. Hofstra,
M. Coenen,
L. Kiemeney,
S. Akilesh,
M. Kretzler,
L. Beck,
B. Stengel,
H. Dębiec,
P. Ronco,
J. Wetzels,
M. Zoledziewska,
F. Cucca,
I. Ionita-Laza,
Hajeong Lee,
E. Hoxha,
R. Stahl,
P. Brenchley,
F. Scolari,
Ming-hui Zhao,
A. Gharavi,
R. Kleta,
N. Chen,
K. Kiryluk
|
7 |
2020 |
7
🐜
|
|
🐜
|
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
71 auth.
G. Jaureguiberry,
M. de La Dure-Molla,
D. Parry,
Mickael Quentric,
N. Himmerkus,
Toshiyasu Koike,
J. Poulter,
E. Klootwijk,
S. L. Robinette,
A. Howie,
Vaksha Patel,
Marie-Lucile Figueres,
H. Stanescu,
N. Issler,
J. Nicholson,
...
D. Bockenhauer,
C. Laing,
S. Walsh,
D. McCredie,
S. Povey,
A. Asselin,
Arnaud Picard,
A. Coulomb,
A. Medlar,
I. Bailleul-Forestier,
A. Verloes,
C. Le Caignec,
G. Roussey,
J. Guiol,
B. Isidor,
C. Logan,
R. Shore,
Colin A. Johnson,
C. Inglehearn,
Suhaila Al-Bahlani,
M. Schmittbuhl,
F. Clauss,
Mathilde Huckert,
V. Laugel,
E. Ginglinger,
S. Pajarola,
G. Spartà,
D. Bartholdi,
A. Rauch,
M. Addor,
P. M. Yamaguti,
H. Safatle,
A. Acevedo,
H. Martelli-Júnior,
Pedro E. dos Santos Netos,
R. Coletta,
S. Gruessel,
Carolin Sandmann,
Denise Ruehmann,
C. Langman,
S. Scheinman,
D. Ozdemir-Ozenen,
T. Hart,
P. Hart,
U. Neugebauer,
E. Schlatter,
P. Houillier,
W. Gahl,
M. Vikkula,
A. Bloch-Zupan,
M. Bleich,
H. Kitagawa,
R. Unwin,
A. Mighell,
A. Berdal,
R. Kleta
|
6 |
2013 |
6
🐜
|
|
🐜
|
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
46 auth.
O. R. Cabezas,
S. Flanagan,
H. Stanescu,
E. García-Martínez,
R. Caswell,
H. Lango-Allen,
M. Antón-Gamero,
J. Argente,
Anna-Marie Bussell,
A. Brandli,
C. Cheshire,
E. Crowne,
Simona Dumitriu,
R. Drynda,
J. Hamilton-Shield,
...
W. Hayes,
Alexis Hofherr,
D. Iancu,
N. Issler,
C. Jefferies,
P. Jones,
Matthew B. Johnson,
Anne Kesselheim,
E. Klootwijk,
Michael Koettgen,
W. Lewis,
José María Martos,
M. Mozere,
J. Norman,
Vaksha Patel,
A. Parrish,
C. Pérez‐Cerdá,
J. Pozo,
S. Rahman,
N. Sebire,
M. Tekman,
P. Turnpenny,
W. Hoff,
D. Viering,
M. Weedon,
Patricia D. Wilson,
L. Guay-Woodford,
R. Kleta,
K. Hussain,
S. Ellard,
D. Bockenhauer
|
6 |
2017 |
6
🐜
|
|
🦁
|
Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK
N. Issler,
S. Dufek,
R. Kleta,
D. Bockenhauer,
N. Smeulders,
W. V. van’t Hoff
|
6 |
2017 |
6
🦁
|
|
🐜
|
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
54 auth.
M. Reichold,
E. Klootwijk,
J. Reinders,
E. Otto,
M. Milani,
Carsten Broeker,
C. Laing,
J. Wiesner,
S. Devi,
Weibin Zhou,
R. Schmitt,
I. Tegtmeier,
C. Sterner,
Hannes Doellerer,
K. Renner,
...
P. Oefner,
K. Dettmer,
Johann M B Simbürger,
R. Witzgall,
H. Stanescu,
Simona Dumitriu,
D. Iancu,
Vaksha Patel,
M. Mozere,
M. Tekman,
G. Jaureguiberry,
N. Issler,
Anne Kesselheim,
S. Walsh,
D. Gale,
A. Howie,
J. Martins,
A. Hall,
Michael Kasgharian,
Kevin O'Brien,
C. Ferreira,
P. Atwal,
Mahim Jain,
A. Hammers,
G. Charles-Edwards,
C. Choe,
D. Isbrandt,
A. Cebrian-Serrano,
B. Davies,
R. Sandford,
C. Pugh,
D. Konecki,
S. Povey,
D. Bockenhauer,
U. Lichter-Konecki,
W. Gahl,
R. Unwin,
R. Warth,
R. Kleta
|
5 |
2018 |
5
🐜
|
|
🐜
|
Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.
17 auth.
A. Vivante,
M. Mark-Danieli,
M. Davidovits,
Orit Harari‐Steinberg,
Dorit Omer,
Y. Gnatek,
R. Cleper,
D. Landau,
Y. Kovalski,
I. Weissman,
...
Israel Eisenstein,
M. Soudack,
Haike Reznik Wolf,
N. Issler,
D. Lotan,
Y. Anikster,
B. Dekel
|
5 |
2013 |
5
🐜
|
|
🐜
|
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
35 auth.
S. Dufek,
C. Cheshire,
A. Levine,
R. Trompeter,
N. Issler,
M. Stubbs,
M. Mozere,
Sanjana Gupta,
E. Klootwijk,
Vaksha Patel,
D. Hothi,
A. Waters,
H. Webb,
K. Tullus,
L. Jenkins,
...
L. Godinho,
E. Levtchenko,
J. Wetzels,
N. Knoers,
N. Teeninga,
J. Nauta,
M. Shalaby,
Sherif Eldesoky,
J. Kari,
S. Thalgahagoda,
R. Ranawaka,
A. Abeyagunawardena,
A. Adeyemo,
M. Kristiansen,
R. Gbadegesin,
N. Webb,
D. Gale,
H. Stanescu,
R. Kleta,
D. Bockenhauer
|
5 |
2019 |
5
🐜
|
|
🐜
|
KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16
18 auth.
S. Parrock,
S. Hussain,
N. Issler,
A. Differ,
N. Lench,
S. Guarino,
M. Oosterveld,
M. Keijzer-Veen,
E. Brilstra,
H. van Wieringen,
...
A. Y. Konijnenberg,
S. Amin-Rasip,
Simona Dumitriu,
E. Klootwijk,
N. Knoers,
D. Bockenhauer,
R. Kleta,
A. Zdebik
|
5 |
2013 |
5
🐜
|
|
🐜
|
A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights
41 auth.
B. Pode-Shakked,
Yishay Ben-Moshe,
O. Barel,
Lilach C. Regev,
Maayan Kagan,
A. Eliyahu,
D. Marek‐Yagel,
Danit Atias-Varon,
Einat Lahav,
N. Issler,
Omer Shlomovitz,
R. Semo Oz,
N. Kol,
Nofar Mor,
Ifat Bar-joseph,
...
Y. Khavkin,
Elisheva Javasky,
P. Beckerman,
Meidad Greenberg,
Oded Volovelsky,
Yael Borovitz,
M. Davidovits,
Orly Haskin,
H. Alfandary,
Shely Levi,
Maital Kaidar,
Z. Katzir,
Avital Angel-korman,
R. Becker-Cohen,
Efrat Ben-Shalom,
A. Leiba,
E. Mor,
Amit Dagan,
Itai M. Pessach,
D. Lotan,
Moshe Shashar,
Y. Anikster,
A. Raas‐Rothschild,
G. Rechavi,
B. Dekel,
A. Vivante
|
3 |
2022 |
3
🐜
|
