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11 . Periodical
Novel MUC1variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
저자
by
de Haan, Amber
;
van Eerde, Albertien M.
;
Eijgelsheim, Mark
;
Rump, Patrick
;
van der Zwaag, Bert
, et al.
소스
Kidney International; May 2023, Vol. 103 Issue: 5 p986-989, 4p
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17 . Academic Journal
Autosomal dominant tubulointerstitial kidney disease: A review.
저자
by
Živná, Martina
;
Kidd, Kendrah O.
;
Barešová, Veronika
;
Hůlková, Helena
;
Kmoch, Stanislav
, et al.
소스
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2022, Vol. 190 Issue 3, p309-324, 16p
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17 . Academic Journal
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.
저자
by
Elhassan, Elhussein A. E.
;
Murray, Susan L.
;
Connaughton, Dervla M.
;
Kennedy, Claire
;
Cormican, Sarah
, et al.
소스
Journal of Nephrology (JNonline); Jul2022, Vol. 35 Issue 6, p1655-1665, 11p
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17 . Academic Journal
SGLT-2 Inhibitors Are Well Tolerated in Patients With Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD): PUB192
저자
by
Bleyer, Anthony J.
;
Kidd, Kendrah O.
;
Robins, Victoria C.
;
Kim, Alice
;
Zivna, Martina
, et al.
소스
Journal of the American Society of Nephrology
. Nov 01, 2022 33(11S Suppl 11S, Kidney Week, Orlando, FL, November 3-6, 2022):937-937
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17 . Academic Journal
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.
저자
by
Bleyer, Anthony J.
;
Wolf, Matthias T.
;
Kidd, Kendrah O.
;
Zivna, Martina
;
Kmoch, Stanislav
.
소스
Pediatric Nephrology
. May2022, Vol. 37 Issue 5, p933-946. 14p. 2 Charts, 4 Graphs.
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17 . Academic Journal
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
저자
by
Sicking, Mark
;
Živná, Martina
;
Bhadra, Pratiti
;
Barešová, Veronika
;
Tirincsi, Andrea
, et al.
소스
Life Science Alliance; Apr2022, Vol. 5 Issue 4, p1-16, 16p
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17 . Periodical
A mutation in the SAA1promoter causes hereditary amyloid A amyloidosis
저자
by
Sikora, Jakub
;
Kmochová, Tereza
;
Mušálková, Dita
;
Pohludka, Michal
;
Přikryl, Petr
, et al.
소스
Kidney International; February 2022, Vol. 101 Issue: 2 p349-359, 11p
Full Text (ScienceDirect)
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17 . Periodical
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to RENmutations identifies distinct clinical subtypes
저자
by
Živná, Martina
;
Kidd, Kendrah
;
Zaidan, Mohamad
;
Vyleťal, Petr
;
Barešová, Veronika
, et al.
소스
Kidney International; December 2020, Vol. 98 Issue: 6 p1589-1604, 16p
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17 . Periodical
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMODand MUC1
저자
by
Olinger, Eric
;
Hofmann, Patrick
;
Kidd, Kendrah
;
Dufour, Inès
;
Belge, Hendrica
, et al.
소스
Kidney International; September 2020, Vol. 98 Issue: 3 p717-731, 15p
Full Text (ScienceDirect)
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17 .
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
저자
by
de Haan, Amber
;
Eijgelsheim, Mark
;
Rump, Patrick
;
Van der Zwaag, Bert
;
Zivna, Martina
, et al.
소스
Nephrology Dialysis Transplantation, 37, I16-I16. Oxford University Press
Scopus
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