Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Natacha Sloboda"'
Autor:
Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
We report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his
Externí odkaz:
https://doaj.org/article/75404f07759d4b46944b978c0e7573c8
Autor:
Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Bardet–Biedl syndrome (BBS) is a multisystemic disorder characterized by rod–cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malfor
Externí odkaz:
https://doaj.org/article/d57fb7ce797d411e82a45357c1974eb9
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:
Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup
Publikováno v:
Molecular geneticsgenomic medicine. 10(5)
Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnor
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
Autor:
Jean-Louis Guéant, Alain Blum, Amerh Alqahtani, François Feillet, Natacha Sloboda, Marc Merten, Sophie Henn-Ménétré, Emeline Renard, Elise Jeannesson, Arnaud Wiedemann
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2019, 127, pp.184-190. ⟨10.1016/j.ymgme.2019.06.006⟩
Molecular Genetics and Metabolism, Elsevier, 2019, 127 (3), pp.184-190. ⟨10.1016/j.ymgme.2019.06.006⟩
Molecular Genetics and Metabolism, Elsevier, 2019, 127, pp.184-190. ⟨10.1016/j.ymgme.2019.06.006⟩
Molecular Genetics and Metabolism, Elsevier, 2019, 127 (3), pp.184-190. ⟨10.1016/j.ymgme.2019.06.006⟩
Aim To study the efficacy of low dosage of nitisinone in alkaptonuria. Background Alkaptonuria (AKU) is a rare genetic disease which induces deposition of homogentisic acid (HGA) in connective inducing premature arthritis, lithiasis, cardiac valve di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f43f42ccde797221fddf2b78d677ed7
https://hal.archives-ouvertes.fr/hal-03487728
https://hal.archives-ouvertes.fr/hal-03487728
Autor:
Wallid Deb, Bertrand Cariou, Arnaud Wiedemann, Julien Thevenon, Rhonda E. Schnur, Vincent Ramaekers, Alexandre N. Datta, Richard Redon, Solène Conrad, Natacha Sloboda, Benjamin Cogné, François Feillet, Geneviève Baujat, Bertrand Isidor, Pierre Vabres, Tawfeg Ben-Omran, Marie Vincent, Flora Breheret, Dorothea Wand, Aline Delignières, Laurence Faivre, Betty Gardie, Xavier Balguerie, Anne-Claire Bursztejn, Marion Lenglet, Lionel Van Maldergem, Sébastien Küry, Antonin Lamaziere, Virginie Carmignac, Eva Trochu, Sébastien Barbarot, Marie-Cécile Nassogne, Erin Torti, Yue Si, Paul Kuentz, Thomas Besnard, Jean-Louis Guéant, Alice Goldenberg, Stéphane Bézieau
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 21, no.9, p. 2025-2035 (2019)
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2025-2035. ⟨10.1038/s41436-019-0445-x⟩
Web of Science
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2025-2035. ⟨10.1038/s41436-019-0445-x⟩
Web of Science
International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea3cff14711e5e791a560c860d3f8040
https://hdl.handle.net/2078.1/239317
https://hdl.handle.net/2078.1/239317