Isabel Ottlewski
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Explore the profile of Isabel Ottlewski including associated specialties, affiliations and a list of published articles.
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9
Citations
106
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Recent Articles
1.
Majmundar A, Widmeier E, Heneghan J, Daga A, Wu C, Buerger F, et al.
Genet Med
. 2022 Dec;
25(3):100351.
PMID: 36571463
Purpose: Nephrolithiasis (NL) affects 1 in 11 individuals worldwide, leading to significant patient morbidity. NL is associated with nephrocalcinosis (NC), a risk factor for chronic kidney disease. Causative genetic variants...
2.
Wu C, Lim T, Wang C, Seltzsam S, Zheng B, Schierbaum L, et al.
Eur Urol Open Sci
. 2022 Oct;
44:106-112.
PMID: 36185583
Background: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease among children and adults younger than 30 yr. In our previous...
3.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton D, Wu C, et al.
Genet Med
. 2021 Dec;
24(2):307-318.
PMID: 34906515
Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT...
4.
Ullah I, Ottlewski I, Shehzad W, Riaz A, Ijaz S, Tufail A, et al.
BMC Med Genomics
. 2021 Nov;
14(1):266.
PMID: 34772415
Background: Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant morbidity and cost. Common variants in the calcium sensing receptor gene (CaSR) have been associated with NL. Rare...
5.
Majmundar A, Buerger F, Forbes T, Klambt V, Schneider R, Deutsch K, et al.
Sci Adv
. 2021 Feb;
7(1).
PMID: 33523862
Nephrotic syndrome (NS) is a leading cause of chronic kidney disease. We found recessive variants in two families with early-onset NS by exome sequencing. Overexpression of wild-type (WT) , but...
6.
Connaughton D, Dai R, Owen D, Marquez J, Mann N, Graham-Paquin A, et al.
Am J Hum Genet
. 2020 Sep;
107(4):727-742.
PMID: 32891193
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first...
7.
Wu C, Mann N, Nakayama M, Connaughton D, Dai R, Kolvenbach C, et al.
Genet Med
. 2020 Jun;
22(10):1673-1681.
PMID: 32475988
Purpose: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in childhood and adolescence. We aim to identify novel monogenic causes...
8.
Jobst-Schwan T, Klambt V, Tarsio M, Heneghan J, Majmundar A, Shril S, et al.
Kidney Int
. 2020 Jan;
97(3):567-579.
PMID: 31959358
Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic...
9.
Ottlewski I, Munch J, Wagner T, Schonauer R, Bachmann A, Weimann A, et al.
Kidney Int
. 2019 Apr;
96(1):222-230.
PMID: 31027891
End-stage renal disease (ESRD) of undetermined etiology is highly prevalent and constitutes a significant clinical challenge, particularly in the context of kidney transplantation (KT). Despite the identification of numerous rare...