Výsledky vyhledávání - "Michele Sardella"

A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor

Autor: Filippo Spreafico, Beatrice Gamba, Paolo Radice, Franca Fossati-Bellani, Maria Adele Testi, Daniela Perotti, Michele Sardella, Fausto Fedeli, Monica Terenziani, Gianluigi Ardissino

Publikováno v: Pediatric Nephrology. 24:1413-1417

The WT1 gene plays a crucial role in urogenital and gonadal development. Germline WT1 alterations have been described in a wide spectrum of pathological conditions, including kidney diseases, genital abnormalities and Wilms tumor (WT), frequently occ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4cd78e050e641beced7406f312d0d3
https://doi.org/10.1007/s00467-008-1056-y

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Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case

Autor: Paolo Radice, Daniela Perotti, Monica Terenziani, Elena Lualdi, Filippo Spreafico, Paola Scarfone, Franca Fossati-Bellani, Giovanna De Vecchi, Eulalia Galea, Paola Collini, Michele Sardella, Gabriella Sozzi

Publikováno v: American Journal of Medical Genetics Part A. :85-88

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab8de88f1611b6376f9d74c96cc7a00
https://doi.org/10.1002/ajmg.a.31480

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Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors

Autor: Andrea Pession, Monica Terenziani, Franca Fossati-Bellani, Paolo Radice, Michele Sardella, Filippo Spreafico, Beatrice Gamba, Daniela Perotti, Paola Collini, Marilina Nantron

Publikováno v: Oncogene. 27(33)

For many years the precise genetic etiology of the majority of Wilms' tumors has remained unexplained. Recently, the WTX gene, mapped to chromosome Xq11.1, has been reported to be lost or mutated in approximately one-third of Wilms' tumors. Moreover,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed3054b23296695d6827dbd4d76671f
https://pubmed.ncbi.nlm.nih.gov/18391980

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Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases

Autor: M. Giarola, Virna De Benedetti, Michele Sardella, Mara Colombo, Carla B. Ripamonti, Paolo Radice, Luigi Mariani, Bernard Peissel, Silvana Pilotti, Siranoush Manoukian, Marco Losa, Marco A. Pierotti

Publikováno v: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 21(10)

Most familial breast cancers arise in patients who tested negative for germline mutations in BRCA1 and BRCA2 genes (also referred to as BRCAX cases). Several studies aimed to define histopathological and molecular profiles characteristic of BRCA1, BR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e38479e6872dc00920b7a11d93c381d9
https://pubmed.ncbi.nlm.nih.gov/18327210

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Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome

Autor: Olga Mannarino, Carlo Dominici, Stefania Uccini, Daniela Perotti, Paola Collini, Paola Casieri, Denis A. Cozzi, Michele Sardella, Cristina Colarossi, Paolo Radice, Antonella Stoppacciaro, Filippo Spreafico, Loredana Amoroso

Background This study investigated the genetic events leading to tumorigenesis in a patient affected with WAGR syndrome who developed multiple distinct Wilms tumors (WTs). Procedure and Results At 1 year of age, the child developed two synchronous bi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdfb3eda8826dc3fb33f5a7088926ef7
http://hdl.handle.net/11573/225680

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The murine Pou6f2 gene is temporally and spatially regulated during kidney embryogenesis and its human homolog is overexpressed in a subset of Wilms tumors

Autor: Giovanna De Vecchi, Daniela Perotti, Franca Fossati-Bellani, Filippo Spreafico, Paola Collini, Michele Sardella, Elena Menegola, Francesca Di Renzo, Luisa Doneda, Erminio Giavini, Paolo Radice

Publikováno v: Journal of pediatric hematology/oncology. 28(12)

We have previously suggested the transcription factor gene POU6F2 as a novel tumor suppressor involved in Wilms tumor (WT) predisposition. Since WT arises from pluripotent embryonic renal precursors, in this study we analyzed the expression of the mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ab07001ad63175c5b797b660cd8f8ba
https://pubmed.ncbi.nlm.nih.gov/17164647

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