Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Marta Sabbadini"'
Autor:
Amelie Pinard, Anthony Chua, Ugur Hodoglugil, Pierre-Marie Martin, Julie Mak, Amie Blanco, Marta Sabbadini, Aleksandar Rajkovic, W. Patrick Devine, Jessica Van Ziffle
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100582- (2023)
Externí odkaz:
https://doaj.org/article/91aa31a0609e4ba9b7ba0ee21f7d079d
Autor:
Marta Sabbadini, Jude M. Abadie, Anne Slavotinek, Jessica Van Ziffle, Mark N. Kvale, Hane Lee, Neil Risch, Pui-Yan Kwok, Heather H. Pua, Joseph T. Shieh, Ugur Hodoglugil
Publikováno v:
European Journal of Medical Genetics. 60:504-508
We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, smal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ff7847a28beeb4f5eb70741ed2db92
https://doi.org/10.1016/j.ejmg.2017.07.003
https://doi.org/10.1016/j.ejmg.2017.07.003
Publikováno v:
American Journal of Medical Genetics Part A. 170:2711-2718
We present a 5-year-old female with a distinctive phenotype comprising global developmental delays, pre- and post-natal growth restriction, striking joint laxity with soft skin, and scoliosis. She had a triangular facies, a prominent forehead, propto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a1d31f82989bd216fec46a3192b437
https://doi.org/10.1002/ajmg.a.37809
https://doi.org/10.1002/ajmg.a.37809
Autor:
R. Bradley Troxler, Marta Sabbadini, Neerja Gupta, David Kronn, Ankit K. Desai, Katalin Scherer, Susan M. Richards, Alison McVie-Wylie, Priya S. Kishnani, Reeval Segel, Langston Sherry, Alexandra Joseph, Pranoot Tanpaiboon, William B. Rizzo, Crystal Sung, Seymour Packman, Sheela Nampoothiri, Zoheb B. Kazi, Omar A. Abdul-Rahman, Annette Feigenbaum, Dmitriy Niyazov
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: To investigate immune tolerance induction with transient low-dose methotrexate (TLD-MTX) initiated with recombinant human acid α-glucosidase (rhGAA), in treatment-naïve cross-reactive immunologic material (CRIM)-positive infantile-onset Po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cff38644df8f1171fb7fb7176b52f98
https://pubmed.ncbi.nlm.nih.gov/30214072
https://pubmed.ncbi.nlm.nih.gov/30214072
Autor:
Bryce A. Mendelsohn, Marta Sabbadini
Publikováno v:
Genetics in Medicine. 21:762
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0542d910d69fb36e2db3dc15de3dd8e7
https://doi.org/10.1038/s41436-018-0133-2
https://doi.org/10.1038/s41436-018-0133-2
Autor:
Sherry Langston, Neerja Gupta, James Weisfield-Adams, Marta Sabbadini, Zoheb B. Kazi, Sheela Nampoothiri, Seymour Packman, Diana Ballhausen, Priya S. Kishnani, Bradley Troxler, Jean-Marc Nuoffer, Alexandra Joseph, Marianne Rohrbach, Ankit K. Desai, Katalin Scherer, Susan M. Richards, Clarisa Maxit, Angelika Erwin, Annette Feigenbaum, Dmitriy Niyazov, Pranoot Tanpaiboon, William B. Rizzo, David Kronn, Alison McVie-Wylie, Crystal Sung, Omar A. Abdul-Rahman
Publikováno v:
Molecular Genetics and Metabolism. 123:S38
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d33998ea4e908720c4093ce19601b17c
https://doi.org/10.1016/j.ymgme.2017.12.080
https://doi.org/10.1016/j.ymgme.2017.12.080
Autor:
Marta Sabbadini, Diana Ballhausen, Priya S. Kishnani, David Kronn, Seymour Packman, James D. Weisfeld-Adams, Bradley Troxler, Susan M. Richards, Marianne Rohrbach, Angelika Erwin, Alexandra Joseph, Omar A. Abdul-Rahman, Jean-Marc Nuoffer, Chris Makris, Katalyn Scherer, Ankit K. Desai, Alison McVie-Wylie, William B. Rizzo, Clarisa Maxit, Zoheb B. Kazi
Publikováno v:
Molecular Genetics and Metabolism. 117:S65-S66
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1434c25bc5b7f64966f26719514828c7
https://doi.org/10.1016/j.ymgme.2015.12.315
https://doi.org/10.1016/j.ymgme.2015.12.315
Autor:
Donatella Barisani, Marta Sabbadini, Giuseppe Miserocchi, Raffaella Meneveri, Anna Marozzi, Enrico Ginelli, Elena Conforti
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1638(2):149-156
To investigate the molecular events taking place during the development of hydraulic interstitial edema, we analyzed by microarray and conventional molecular techniques the variation of gene expression in lung from rabbits treated with slow-rate sali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::313d8bb15483b33ad8c621355ac3e8d6
Autor:
Anna Serra, Daniela Capello, Raffaella Chiaramonte, Gianluca Gaidano, Marta Sabbadini, Gajanan V. Sherbet, Elisabetta Calzavara, Paola Comi, Francesca Balordi
Publikováno v:
Università degli Studi del Piemonte Orientale-IRIS
The transduction of Notch signal plays an intricate role in cell differentiation and pathogenesis of haematological malignancies as well as in certain congenital conditions. We found no genomic changes in either gene in 34 leukaemic samples and 25 le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bd9154b1b1996cb840bed878b1aabbe
https://doi.org/10.1002/jcb.10383
https://doi.org/10.1002/jcb.10383
Publikováno v:
Journal of genetic counseling. 22(6)
International students face social, psychological and academic challenges upon moving to a foreign country to pursue higher education. Clinical disciplines such as genetic counseling present additional challenges adapting to an unfamiliar health care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c716297cd1cad8d8ec42ff2d102a9e
https://pubmed.ncbi.nlm.nih.gov/24037028
https://pubmed.ncbi.nlm.nih.gov/24037028