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Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort

Publikováno v: Nephrology Dialysis Transplantation, 33(1), 85-94. Oxford University Press
Zaniew, M, Bökenkamp, A, Kołbuc, M, la Scola, C, Baronio, F, Niemirska, A, Szczepańska, M, Bürger, J, la Manna, A, Miklaszewska, M, Rogowska-Kalisz, A, Gellermann, J, Zampetoglou, A, Wasilewska, A, Roszak, M, Moczko, J, Krzemień, A, Runowski, D, Siteń, G, Załuska-Leśniewska, I, Fonduli, P, Zurrida, F, Paglialonga, F, Gucev, Z, Paripovic, D, Rus, R, Said-Conti, V, Sartz, L, Chung, W Y, Park, S J, Lee, J W, Park, Y H, Ahn, Y H, Sikora, P, Stefanidis, C J, Tasic, V, Konrad, M, Anglani, F, Addis, M, Cheong, H I, Ludwig, M & Bockenhauer, D 2018, ' Long-term renal outcome in children with OCRL mutations: Retrospective analysis of a large international cohort ', Nephrology Dialysis Transplantation, vol. 33, no. 1, pp. 85-94 . https://doi.org/10.1093/ndt/gfw350

Background. Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify pot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b6dd5b3368dcd73f6f20e6fdd2b945
https://pubmed.ncbi.nlm.nih.gov/27708066

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Pitfalls in genetic counselling for β-thalassemia: an individual with 4 different thalassemia mutations

Autor: T. Tuveri, Maria Addis, M. Furbetta, Antonio Cao, Renzo Galanello, Maria Antonietta Melis, M. E. Paglietti

Publikováno v: Clinical Genetics. 33:151-155

This paper describes a complex combination of four thalassemia genes (delta(+), beta(0), nondeletion and deletion alpha-thalassemia) in the spouse of a typical high Hb A2 beta-thalassemia carrier presenting for genetic counselling. This complex gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875d75f375a60d41322b0c0eb439cc43
https://doi.org/10.1111/j.1399-0004.1988.tb03430.x

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A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

Autor: Cristiana Meloni, Antonio Cao, Maria Antonietta Melis, Francesco Emma, Maria Addis, S. Santaniello, Roberto Ciccone, R. Congiu, Milena Cau, Orsetta Zuffardi

Publikováno v: European Journal of Medical Genetics. 50:79-84

The oculocerebrorenal syndrome of Lowe (OCRL) (MIM:309000) is an X-linked multisystemic disorder affecting the eyes, nervous system and kidneys due to mutations in OCRL1 gene. The gene contains 24 exons, and encodes a 105 kDa phosphatydylinositol 4,5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27cb6443248254d22d4473bc8f6ce4e8
https://doi.org/10.1016/j.ejmg.2006.10.003

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Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations

Autor: Angela D'Angelo, Franca Anglani, Dorella Del Prete, Luciana Bonfante, D. Cremasco, Luisa Maria Bertizzolo, Monica Ceol, Maria Addis, Enrica Tosetto

Publikováno v: SpringerPlus

Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 enco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e7bf5cec5d062326bb4a922c234f29
https://doi.org/10.1186/s40064-015-1294-y

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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

Autor: Orsetta Zuffardi, Roberto Ciccone, S. Santaniello, Maria Antonietta Melis, Gabriella Sole, Cristiana Meloni, R. Congiu, Mario Loi, Francesco Emma, Antonio Cao, Maria Addis, Milena Cau

Publikováno v: Journal of Human Genetics. 51:1030-1036

In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c6c374a6276f9b6e21160699e51267
https://doi.org/10.1007/s10038-006-0049-6

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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Publikováno v: Pediatric Nephrology, 30(6), 931-943. Springer Verlag
Recker, F, Zaniew, M, Bockenhauer, D, Miglietti, N, Bokenkamp, A, Moczulska, A, Rogowska-Kalisz, A, Laube, G, Said-Conti, V, Kasap-Demir, B, Niemirska, A, Litwin, M, Siten, G, Chrzanowska, K H, Krajewska-Walasek, M, Sethi, S K, Tasic, V, Anglani, F, Addis, M, Wasilewska, A, Szczepanska, M, Pawlaczyk, K, Sikora, P & Ludwig, M 2015, ' Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome ', Pediatric Nephrology, vol. 30, no. 6, pp. 931-943 . https://doi.org/10.1007/s00467-014-3013-2

The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy.Twenty-eight novel patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb46b963790067899f052a3ba0a78c1f
https://pubmed.ncbi.nlm.nih.gov/25480730

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