Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Sara Giangiobbe"'
Autor:
Calogerina Catalano, Nagarajan Paramasivam, Joanna Blocka, Sara Giangiobbe, Stefanie Huhn, Matthias Schlesner, Niels Weinhold, Rolf Sijmons, Mirjam de Jong, Christian Langer, Klaus-Dieter Preuss, Björn Nilsson, Brian Durie, Hartmut Goldschmidt, Obul Reddy Bandapalli, Kari Hemminki, Asta Försti
Publikováno v:
Blood Cancer Journal, Vol 11, Iss 2, Pp 1-4 (2021)
Externí odkaz:
https://doaj.org/article/4fdbecc541394152a10c1dc79ef1d714
Autor:
Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100777- (2021)
Background: In NANS deficiency, biallelic mutations in the N-acetylneuraminic acid synthase (NANS) gene impair the endogenous synthesis of sialic acid (N-acetylneuraminic acid) leading to accumulation of the precursor, N-acetyl mannosamine (ManNAc),
Externí odkaz:
https://doaj.org/article/63d32cbd678940469e7e39b261c4ce6e
Autor:
Aayushi Srivastava, Sara Giangiobbe, Diamanto Skopelitou, Beiping Miao, Nagarajan Paramasivam, Chiara Diquigiovanni, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Familial inheritance in non-medullary thyroid cancer (NMTC) is an area that has yet to be adequately explored. Despite evidence suggesting strong familial clustering of non-syndromic NMTC, known variants still account for a very small percentage of t
Externí odkaz:
https://doaj.org/article/23c65b19eb464b2c85226e7343289103
Autor:
Aayushi Srivastava, Sara Giangiobbe, Abhishek Kumar, Nagarajan Paramasivam, Dagmara Dymerska, Wolfgang Behnisch, Mathias Witzens-Harig, Jan Lubinski, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 8 (2020)
Hodgkin lymphoma (HL) is a lymphoproliferative malignancy of B-cell origin that accounts for 10% of all lymphomas. Despite evidence suggesting strong familial clustering of HL, there is no clear understanding of the contribution of genes predisposing
Externí odkaz:
https://doaj.org/article/8dd35bfecde94fb981e63ac60497ced8
Autor:
Beiping Miao, Diamanto Skopelitou, Aayushi Srivastava, Sara Giangiobbe, Dagmara Dymerska, Nagarajan Paramasivam, Abhishek Kumar, Magdalena Kuświk, Wojciech Kluźniak, Katarzyna Paszkowska-Szczur, Matthias Schlesner, Jan Lubinski, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1295 (2022)
Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5% of all CRC cases are due to germline mutations in known predisposition genes, and the remaining genetic burden still has to be discovered. In this study, we
Externí odkaz:
https://doaj.org/article/3ac85f4b2cfe43b0b70f7be4e8818d7a
Autor:
Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam, Sara Giangiobbe, Chiara Diquigiovanni, Elena Bonora, Roland Eils, Matthias Schlesner, Kari Hemminki, Asta Försti
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Abstract Whole-genome sequencing methods in familial cancer are useful to unravel rare clinically important cancer predisposing variants. Here, we present improvements in our pedigree-based familial cancer variant prioritization pipeline referred as
Externí odkaz:
https://doaj.org/article/c32193a2b57f403ea2c06d828e63cf5c
Autor:
Aayushi Srivastava, Abhishek Kumar, Sara Giangiobbe, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
Publikováno v:
Biomolecules, Vol 9, Iss 10, p 605 (2019)
Evidence of familial inheritance in non-medullary thyroid cancer (NMTC) has accumulated over the last few decades. However, known variants account for a very small percentage of the genetic burden. Here, we focused on the identification of common pat
Externí odkaz:
https://doaj.org/article/e8cf342d24f54b02a96c7a5db8760e4c
Autor:
Irene Forno, Stefano Ferrero, Maria Veronica Russo, Giacomo Gazzano, Sara Giangiobbe, Emanuele Montanari, Alberto Del Nero, Bernardo Rocco, Giancarlo Albo, Lucia R Languino, Dario C Altieri, Valentina Vaira, Silvano Bosari
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0130060 (2015)
Most men diagnosed with prostate cancer will have an indolent and curable disease, whereas approximately 15% of these patients will rapidly progress to a castrate-resistant and metastatic stage with high morbidity and mortality. Therefore, the identi
Externí odkaz:
https://doaj.org/article/f1f068f53a5748a9a3009f5fcfcb6648
Autor:
Beiping, Miao, Diamanto, Skopelitou, Aayushi, Srivastava, Sara, Giangiobbe, Dagmara, Dymerska, Nagarajan, Paramasivam, Abhishek, Kumar, Magdalena, Kuświk, Wojciech, Kluźniak, Katarzyna, Paszkowska-Szczur, Matthias, Schlesner, Jan, Lubinski, Kari, Hemminki, Asta, Försti, Obul Reddy, Bandapalli
Publikováno v:
International journal of molecular sciences. 23(3)
Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5% of all CRC cases are due to germline mutations in known predisposition genes, and the remaining genetic burden still has to be discovered. In this study, we
Autor:
Diana Ballhausen, Livia Garavelli, Hector Gallart-Ayala, Tony Teav, Ivan Ivanovski, Sara Giangiobbe, Mohamed Faouzi, Julijana Ivanisevic, Andrea Superti-Furga, Dirk Lefeber, Stefano Giuseppe Caraffi, Christel Tran, Sandrine Cornaz Buros, Licia Turolla
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100777-(2021)
Molecular Genetics and Metabolism Reports, 28
Molecular Genetics and Metabolism Reports, 28
Background In NANS deficiency, biallelic mutations in the N-acetylneuraminic acid synthase (NANS) gene impair the endogenous synthesis of sialic acid (N-acetylneuraminic acid) leading to accumulation of the precursor, N-acetyl mannosamine (ManNAc), a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83f7ced504b3fbceb1f746b113fa45c5
https://doi.org/10.5167/uzh-207898
https://doi.org/10.5167/uzh-207898