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1 . Academic Journal
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
저자
by
Kidd, Kendrah
;
Vylet’al, Petr
;
Schaeffer, Céline
;
Olinger, Eric
;
Živná, Martina
, et al.
소스
In
Kidney International Reports
September 2020 5(9):1472-1485
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7 .
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
저자
by
Jorge, Sofia
;
Kidd, Kendrah
;
Vylet’al, Petr
;
Nogueira, Estela
;
Martin, Lauren
, et al.
소스
In
Kidney International Reports
January 2023
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7 . Academic Journal
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
저자
by
Vylet'al, Petr
;
Kidd, Kendrah
;
Ainsworth, Hannah C.
;
Springer, Drahomíra
;
Vrbacká, Alena
, et al.
소스
American Journal of Nephrology; 2021, Vol. 52 Issue 5, p378-387, 10p
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7 . Academic Journal
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases
저자
by
Bleyer, Anthony J.
;
Kidd, Kendrah
;
Robins, Victoria
;
Martin, Lauren
;
Taylor, Abbigail
, et al.
소스
GENETICS IN MEDICINE
; JAN 2020, 22 1, p142-p149, 8p.
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7 . Academic Journal
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
저자
by
Zivna, Martina
;
Kidd, Kendrah
;
Pristoupilova, Anna
;
Baresova, Veronika
;
DeFelice, Mathew
, et al.
소스
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
; SEP 2018, 29 9, p2418-p2431, 14p.
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7 . Academic Journal
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
저자
by
Kirby, Andrew
;
Gnirke, Andreas
;
Jaffe, David B
;
Barešová, Veronika
;
Pochet, Nathalie
, et al.
소스
Nature Genetics
. Mar2013, Vol. 45 Issue 3, p299-303. 5p. 1 Color Photograph, 3 Diagrams.
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7 . Academic Journal
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure.
저자
by
Živná, Martina
;
Hůlková, Helena
;
Matignon, Marie
;
Hodañová, Kateřina
;
Vylet'al, Petr
, et al.
소스
American Journal of Human Genetics
. 8/14/2009, Vol. 85 Issue 2, p204-213. 10p.
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7 . Academic Journal
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
저자
by
Stiburkova, Blanka
;
Majewski, Jacek
;
Hodanova, Katerina
;
Ondrova, Lenka
;
Jerabkova, Marketa
, et al.
소스
European Journal of Human Genetics
. Feb2003, Vol. 11 Issue 2, p145. 10p.
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7 . Academic Journal
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
저자
by
Bolar, Nikhita Ajit
;
Golzio, Christelle
;
Zivna, Martina
;
Hayot, Gaelle
;
Van Hemelrijk, Christine
, et al.
소스
AMERICAN JOURNAL OF HUMAN GENETICS
; JUL 7 2016, 99 1, p174-p187, 14p.
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7 .
Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing
저자
by
Kirby, Andrew
;
Gnirke, Andreas
;
Jaffe, David B.
;
Barešová, Veronika
;
Pochet, Nathalie
, et al.
소스
Nature genetics
Open Access (OpenAIRE)
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