Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Geneviève Lefort"'
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:
Vincent Gatinois, Nicole Bigi, Eve Mousty, Jean Chiesa, Yuri Musizzano, Anouck Schneider, Geneviève Lefort, Lucile Pinson, Jean‐Baptiste Gaillard, Clémence Ragon, Marie‐Josée Perez, Magali Tournaire, Patricia Blanchet, Carole Corsini, Emmanuelle Haquet, Patrick Callier, David Geneviève, Franck Pellestor, Jacques Puechberty
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus wit
Externí odkaz:
https://doaj.org/article/39c4096d7dbc4417b85c4a27cf1be3ef
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:
Magali Tournaire, Yuri Musizzano, E Mousty, Patrick Callier, Anouck Schneider, Carole Corsini, Vincent Gatinois, Emmanuelle Haquet, Nicole Bigi, Jean-Baptiste Gaillard, Geneviève Lefort, Franck Pellestor, Clémence Ragon, David Geneviève, Patricia Blanchet, Jacques Puechberty, Jean Chiesa, Lucile Pinson, Marie-Josée Perez
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 2019, 7 (11), pp.e00895. ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (11), ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, 2019, 7 (11), pp.e00895. ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (11), ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
BACKGROUND: Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61cd15b3709ca26efa2c8ef5dc6afc20
https://hal.umontpellier.fr/hal-02562012
https://hal.umontpellier.fr/hal-02562012
Publikováno v:
médecine/sciences. 30:266-273
The recent discovery of a new kind of massive chromosomal rearrangement in different cancers, named "chromothripsis" (chromo for chromosome, thripsis for shattering) has questioned the established models for a progressive development of tumors. Indee
Publikováno v:
médecine/sciences. 30:55-63
Les remaniements chromosomiques complexes (CCR) regroupent differents types de rearrangements de la structure des chromosomes, dont la juxtaposition peut aboutir a des formules chromosomiques tres complexes. Si la realisation de caryotypes a permis d
Autor:
Valentina Quarantotti, David Geneviève, Linda Mannini, Anouck Schneider, Nicolas Sirvent, Pierre Sarda, Antonio Musio, Francesco Cucco, Jacques Puechberty, Marjolaine Willems, Lucile Pinson, Geneviève Lefort, Corinne Collet, Thierry Frebourg
Publikováno v:
American Journal of Medical Genetics Part A. 164:177-181
Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by constitutional aneuploidies. Mutations in BUB1B and CEP57 genes, which are involved in mitotic spindle and microtubule stabilization, respectively, are respons
Autor:
Pierre Sarda, Bernard Hedon, Tal Anahory, Jacques Puechberty, Geneviève Lefort, Thomas Liehr, Franck Pellestor
Publikováno v:
Human Reproduction Update. 17:476-494
Complex chromosomal rearrangements (CCRs) describe structural rearrangements, essentially translocations, involving at least three breakpoints on two or more chromosomes. Although they are rare in humans, their clinical identification is important si
Autor:
Jean-Michel Faure, David Geneviève, Haissam Rahil, Pierre Boulot, Anouck Schneider, Nami Wadih, Marie-José Perez, Nicole Bigi, Patricia Blanchet, Alain Couture, Pierre Sarda, Anne-Marie Chaze, Geneviève Lefort, Caroline Rouleau
Publikováno v:
Prenatal Diagnosis. 29:1085-1088
Publikováno v:
Fertility and Sterility
Fertility and Sterility, Elsevier, 2014, 102 (6), pp.1785-1796. ⟨10.1016/j.fertnstert.2014.09.006⟩
Fertility and Sterility, Elsevier, 2014, 102 (6), pp.1785-1796. ⟨10.1016/j.fertnstert.2014.09.006⟩
International audience; Objective: To review the discovery of chromothripsis and analyze its impact on human reproduction.Design: Database and literature analysis.Setting: University hospital.Patient(s): Carriers of massive and complex chromosomal re