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Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome
Berauer, John‐Paul, Mezina, Anya I., Okou, David T., Sabo, Aniko, Muzny, Donna M., Gibbs, Richard A., Hegde, Madhuri R., Chopra, Pankaj, Cutler, David J., Perlmutter, David H., Bull, Laura N., Thompson, Richard J., Loomes, Kathleen M., Spinner, Nancy B., Rajagopalan, Ramakrishnan, Guthery, Stephen L., Moore, Barry, Yandell, Mark, Harpavat, Sanjiv, Magee, John C., Kamath, Binita M., Molleston, Jean P., Bezerra, Jorge A., Murray, Karen F., Alonso, Estella M., Rosenthal, Philip, Squires, Robert H., Wang, Kasper S., Finegold, Milton J., Russo, Pierre, Sherker, Averell H., Sokol, Ronald J., Karpen, Saul J.
Published in Hepatology (Baltimore, Md.) (01.09.2019)
Published in Hepatology (Baltimore, Md.) (01.09.2019)
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The Tumor-Associated Calcium Signal Transducer 2 (TACSTD2) oncogene is upregulated in cystic epithelial cells revealing a potential new target for polycystic kidney disease
Smith, Abigail O., Frantz, William Tyler, Preval, Kenley M., Edwards, Yvonne J. K., Ceol, Craig J., Jonassen, Julie A., Pazour, Gregory J.
Published in PLoS genetics (12.12.2024)
Published in PLoS genetics (12.12.2024)
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Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants
McCoy, Megan D., Sarasua, Sara M., DeLuca, Jane M., Davis, Stephanie, Rogers, R. Curtis, Phelan, Katy, Boccuto, Luigi
Published in Pediatric nephrology (Berlin, West) (01.03.2024)
Published in Pediatric nephrology (Berlin, West) (01.03.2024)
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The cellular pathways and potential therapeutics of Polycystic Kidney Disease
Richards, Taylor, Modarage, Kavindiya, Malik, Soniya A, Goggolidou, Paraskevi
Published in Biochemical Society transactions (30.06.2021)
Published in Biochemical Society transactions (30.06.2021)
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Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review
Campobasso, Gianluca, Mercuri, Ludovica, De Razza, Francesca, Cosentino, Antonella, Mele, Marta, Monittola, Antonella, Congedo, Carmen, Calò, Maria Chiara, Scalcione, Caterina, D’Amuri, Alessandro, Mauro, Salvatore, Lattante, Serena
Published in Genes (27.05.2025)
Published in Genes (27.05.2025)
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Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β
BINGHAM, C, ELLARD, S, RYFFEL, G. U, NICHOLLS, A. J, HATTERSLEY, A. T, ALLEN, L, BULMAN, M, SHEPHERD, M, FRAYLING, T, BERRY, P. J, CLARK, P. M, LINDNER, T, BELL, G. I
Published in Kidney international (01.03.2000)
Published in Kidney international (01.03.2000)
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Inaccuracy of clinical phenotyping parameters for hypertensive nephrosclerosis
Zarif, Linda, Covic, Adrian, Iyengar, Sudha, Sehgal, Ashwini R., Sedor, John R., Schelling, Jeffrey R.
Published in Nephrology, dialysis, transplantation (01.11.2000)
Published in Nephrology, dialysis, transplantation (01.11.2000)
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Renal structure and hypertension in autosomal dominant polycystic kidney disease
Gabow, Patricia A., Chapman, Arlene B., Johnson, Ann M., Tangel, Douglas J., Duley, Irene T., Kaehny, William D., Manco-Johnson, Michael, Schrier, Robert W.
Published in Kidney international (01.12.1990)
Published in Kidney international (01.12.1990)
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Effect of ACE gene polymorphism on age at renal death in polycystic kidney disease in Japan
Konoshita, T, Miyagi, K, Onoe, T, Katano, K, Mutoh, H, Nomura, H, Koni, I, Miyamori, I, Mabuchi, H
Published in American journal of kidney diseases (01.01.2001)
Published in American journal of kidney diseases (01.01.2001)
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Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred
Feather, S. A., Winyard, P. J., Dodd, S., Woolf, A. S.
Published in Nephrology, dialysis, transplantation (01.07.1997)
Published in Nephrology, dialysis, transplantation (01.07.1997)
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Echocardiographic Findings in Autosomal Dominant Polycystic Kidney Disease
Hossack, Kenneth F, Leddy, Cheryl L, Johnson, Ann M, Schrier, Robert W, Gabow, Patricia A
Published in The New England journal of medicine (06.10.1988)
Published in The New England journal of medicine (06.10.1988)
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The Renin–Angiotensin–Aldosterone System and Autosomal Dominant Polycystic Kidney Disease
Chapman, Arlene B, Johnson, Ann, Gabow, Patricia A, Schrier, Robert W
Published in The New England journal of medicine (18.10.1990)
Published in The New England journal of medicine (18.10.1990)
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Autosomal dominant polycystic kidney disease in childhood: A longitudinal study
Sedman, Aileen, Bell, Patricia, Manco–Johnson, Michael, Schrier, Robert, Warady, Bradley A., Heard, Edward O., Butler–Simon, Nancy, Gabow, Patricia
Published in Kidney international (01.04.1987)
Published in Kidney international (01.04.1987)
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