Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Aurélie Becker"'
Autor:
Jean-Marie Ravel, Mathilde Renaud, Jean Muller, Aurélie Becker, Émeline Renard, Thomas Remen, Geneviève Lefort, Mylène Dexheimer, Philippe Jonveaux, Bruno Leheup, Céline Bonnet, Laëtitia Lambert
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-10 (2023)
Abstract Background Array-CGH is the first-tier genetic test both in pre- and postnatal developmental disorders worldwide. Variants of uncertain significance (VUS) represent around 10~15% of reported copy number variants (CNVs). Even though VUS reana
Externí odkaz:
https://doaj.org/article/5a850b090ac746dc8eb79d94d62ec71b
Autor:
Natacha Sloboda, Arthur Sorlin, Mylène Valduga, Mylène Beri-Dexheimer, Claire Bilbault, Fanny Fouyssac, Aurélie Becker, Laëtitia Lambert, Céline Bonnet, Bruno Leheup
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Background: We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion. Two siblings patients presented a similar familial imbalanced translocation, originating from
Externí odkaz:
https://doaj.org/article/487faa94bec64c72981b2715acde4e8c
Autor:
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Publikováno v:
Clinical Genetics. 103:346-351
Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal
Autor:
Mylène Béri-Dexheimer, Fanny Fouyssac, Céline Bonnet, Aurélie Becker, Natacha Sloboda, Laetitia Lambert, Claire Bilbault, Mylène Valduga, Arthur Sorlin, Bruno Leheup
Publikováno v:
Frontiers in Immunology
Frontiers in Immunology, Vol 10 (2019)
Frontiers in Immunology, Vol 10 (2019)
Background: We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion. Two siblings patients presented a similar familial imbalanced translocation, originating from