Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Wenhui L Li"'
Autor:
Vera Ayres Meloni, Adriana Di-Battista, Malú Zamariolli, Denise L. Perry, Thomas Liehr, Maria Isabel Melaragno, Rodney D. Gilbert, Nadezda Kosyakova, Alka Malhotra, Mariana Moysés-Oliveira, Giuliana Giannuzzi, Gustavo J.S. Pereira, Donald Basel, Gianna Carvalheira, Maria L. Cremona, Julie McCarrier, Sarah Ennis, Marguerite Neerman-Arbez, Richard J. Fish, Taiza Stumpp, Eleanor G. Seaby, Michael W. Parker, Wenhui L Li, Joris Andrieux, Anjana Chandrasekhar, Florence Petit, Ryan J. Taft, Maria de Fátima de Faria Soares, Fernanda Antunes, Fan Xia, Leslie Domenici Kulikowski, Margaret Drummond-Borg, Jill A. Rosenfeld, Alexandre Reymond, R. Tanner Hagelstrom
Publikováno v:
Human Mutation, Vol. 39, No 2 (2018) pp. 281-291
We report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosome; two boys with maternally inherited and de novo nonsense variants; and two half-brot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd73c02b070e2455636ceb6ca013bba7
https://doi.org/10.1002/humu.23373
https://doi.org/10.1002/humu.23373
Autor:
David Cobrinik, Maurice R.G. O'Gorman, Jennifer G. Aparicio, Lucy Viduetsky, Pedro A. Sanchez-Lara, Alexander R. Judkins, Tatiana V. Tatarinova, Dennis T. Maglinte, Wenhui L. Li, Jonathan D. Buckley, Dejerianne Ostrow, Timothy J. Triche, Thomas C. Lee, Jonathan W. Kim, Margaret G. Au
Publikováno v:
The Journal of molecular diagnostics : JMD. 18(4)
Retinoblastoma is a childhood eye malignancy that can lead to the loss of vision, eye(s), and sometimes life. The tumors are initiated by inactivating mutations in both alleles of the tumor-suppressor gene, RB1, or, rarely, by MYCN amplification. Tim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa85c12140f21d679dd237b8a277c14e
https://pubmed.ncbi.nlm.nih.gov/27155049
https://pubmed.ncbi.nlm.nih.gov/27155049