A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases
A Caliment, O Van Reeth, C Hougardy, K Dahan… - Pediatric …, 2024 - Springer
Background The use of genetic testing in pediatric patients with chronic kidney diseases
(CKD) has increased exponentially in the past few years, particularly with the emergence of …
(CKD) has increased exponentially in the past few years, particularly with the emergence of …
[HTML][HTML] Renal hypodysplasia/aplasia 3 caused by a rare variant of GREB1L with incomplete penetrance in a chinese family
L Fan, G Shen, M Liu, Y Liang, J Yao, Z Ding, Z Li… - Urology, 2024 - Elsevier
Renal agenesis represents the most severe form of congenital anomalies of the kidney and
urinary tract. Bilateral renal agenesis is almost invariably fatal at birth and has high genetic …
urinary tract. Bilateral renal agenesis is almost invariably fatal at birth and has high genetic …
Introducing exome sequencing as part of the diagnostic algorithm for pediatric nephrology patients in Bulgaria-a single-center experience
O Beltcheva, K Kamenarova, G Zlatanova, K Mihova… - Nephron, 2024 - karger.com
Introduction: In pediatric kidney patients, where clinical presentation is often not fully
developed and renal biopsy too risky or inconclusive, it may be difficult to establish the …
developed and renal biopsy too risky or inconclusive, it may be difficult to establish the …
[HTML][HTML] Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing
Q Stein, A Vostrizansky, Y Magay, S Jandeska… - Kidney International …, 2024 - Elsevier
Introduction Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition
associated with SALL1 (Spalt like Transcription Factor 1), is reported to be present in 1 …
associated with SALL1 (Spalt like Transcription Factor 1), is reported to be present in 1 …
[HTML][HTML] The complex genomics of single gene disorders
A McNeill - European Journal of Human Genetics, 2023 - nature.com
The complex genomics of single gene disorders | European Journal of Human Genetics Skip to
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main content Thank you for visiting nature.com. You are using a browser version with limited …
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience
OBK Kamenarovaa, GZK Mihovaa, DRD Kachakovaa… - 2024 - karger.com
Introduction: In pediatric kidney patients, where clinical presentation is often not fully
developed, and renal biopsy is too risky or inconclusive, it may be difficult to establish the …
developed, and renal biopsy is too risky or inconclusive, it may be difficult to establish the …
[PDF][PDF] Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing
A Vostrizansky, S Jandeska, A Anand, K Curry… - researchgate.net
Introduction: Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition
associated with SALL1, is reported to be present in 1: 238,000 individuals in the general …
associated with SALL1, is reported to be present in 1: 238,000 individuals in the general …