Torthaí cuardaigh - Adriana Di‐Battista
- 1 - 5 toradh as 5 á dtaispeáint
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1
Genetics of premature ovarian insufficiency and the association with X-autosome translocations de réir Adriana Di‐Battista, Mariana Moysés‐Oliveira, Maria Isabel Melaragno
Foilsithe / Cruthaithe 2020Revisão -
2
Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements de réir Luiza Sisdelli, Angela Cristina Vidi, Mariana Moysés‐Oliveira, Adriana Di‐Battista, Adriana Bortolai, Danilo Moretti‐Ferreira, Magnus R. Dias‐da‐Silva, Maria Isabel Melaragno, Gianna Carvalheira
Foilsithe / Cruthaithe 2015Artigo -
3
Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations de réir Adriana Di‐Battista, Bianca Pereira Favilla, Malú Zamariolli, Natália Nunes, Alexandre Defelicibus, Lucia Armelin‐Correa, Israel Tojal da Silva, Alexandre Reymond, Mariana Moysés‐Oliveira, Maria Isabel Melaragno
Foilsithe / Cruthaithe 2023Artigo -
4
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes de réir Mariana Moysés‐Oliveira, Adriana Di‐Battista, Malú Zamariolli, Vera Ayres Meloni, Silvia Bragagnolo, Denise Maria Christofolini, Carlos Eduardo Steiner, Nadezda Kosyakova, Thomas Liehr, Alexandre Reymond, Maria Isabel Melaragno
Foilsithe / Cruthaithe 2019Artigo -
5
Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations de réir Mariana Moysés‐Oliveira, Giuliana Giannuzzi, Richard J. Fish, Jill A. Rosenfeld, Florence Petit, Maria de Fátima Soares, Leslie Domenici Kulikowski, Adriana Di‐Battista, Malú Zamariolli, Fan Xia, Thomas Liehr, Nadezda Kosyakova, Gianna Carvalheira, Michael Parker, Eleanor G. Seaby, Sarah Ennis, Rodney D. Gilbert, R. Tanner Hagelstrom, María Laura Cremona, Wenhui L. Li, Alka Malhotra, Anjana Chandrasekhar, Denise Perry, Ryan J. Taft, Julie McCarrier, Donald Basel, Joris Andrieux, Taiza Stumpp, Fernanda Antunes, Gustavo J.S. Pereira, Marguerite Neerman‐Arbez, Vera Ayres Meloni, Margaret Drummond‐Borg, Maria Isabel Melaragno, Alexandre Reymond
Foilsithe / Cruthaithe 2017Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Autosome
Biology
Chromosomal translocation
Gene
Genetics
Chromosome
Phenotype
X chromosome
Breakpoint
X-inactivation
Chromatin
Computational biology
DNA
Deoxyuridine
Endocrinology
Gene knockdown
Gynecology
Internal medicine
Loss function
Medicine
Missense mutation
Molecular biology
Nonsense mutation
Physiology
Position effect
Premature ovarian failure
Premature ovarian insufficiency
Short stature
Skewed X-inactivation
XIST