Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Maria L Cremona"'
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:
Jain Preti, Abby Fyer, Josue Natanael Martinez, Paul S. Appelbaum, Yiying Zhang, Wendy K. Chung, Julia Wynn, Maria L. Cremona, Codruta Chiuzan, Robert L. Klitzman, Vaidehi Jobanputra, Jessica Bulafka, Jimmy Duong
The impact of returning secondary results from exome sequencing (ES) on patients/participants is important to understand as ES is increasingly utilized in clinical care and research. Participants were recruited from studies using ES and were separate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fd3ea4cc4ba9a158bf96da767bccbb
Autor:
Jessica K. Booker, Lauren Yackowski, Erica M. Vaccari, Maria L Cremona, Melanie Hussong, Kathleen S. Hruska, Patricia D. Murphy
Publikováno v:
Cancer Research. 75:P4-12
Background: Hereditary breast and ovarian cancer (HBOC) is a common indication for referral to cancer genetic counselors. Next generation sequencing panels allow for the efficient evaluation of many genes associated with increased risk of these cance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ff5258947d57d07304cbf43058620ab
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-01
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-01
Autor:
Windy Berkofsky-Fessler, Constance Murphy, Deborah Pencarinha, Jessica K. Booker, Rebecca Yee Bassett, Haiyan Wan, Mingjuan Liao, Melanie Hussong, Nina Sanapareddy, Elisabeth McKeen, Kathleen S. Hruska, Patricia D. Murphy, Rachel Nusbaum, Erica S. Rinella, Rachel T. Klein, Zhixiong Xu, Joaquin Villar, Lisa R. Susswein, Maria L Cremona
Publikováno v:
Cancer Research. 75:P4-12
Introduction: Expansion of genetic testing technologies has brought multi-gene panels for cancer susceptibility into the clinic; however, the clinical utility of these next-generation sequencing (NGS) panels is largely unknown. Hypothesis: We hypothe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e2b9d08ab3081576ea5b46673fb7fa3
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-05
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-05