Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Bettina Bessieres"'
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency
Autor:
Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, Celine Guigon, Marika Mäkinen, Laura Tanner, Marja Hietala, Kaja Urbanska, Laura Bellutti, Bérangère Legois, Bettina Bessieres, Alain Gougeon, Alexandra Benachi, Gabriel Livera, Filippo Rosselli, Reiner A Veitia, Micheline Misrahi
Publikováno v:
eLife, Vol 6 (2017)
Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damage response
Externí odkaz:
https://doaj.org/article/56f7045340a14393b3106a4985fe8175
Autor:
Isabelle Ruchonnet-Metrailler, Bettina Bessieres, Damien Bonnet, Shamila Vibhushan, Christophe Delacourt
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e93557 (2014)
BackgroundAbnormalities of the fetal pulmonary vasculature may affect lung morphogenesis. Postnatal studies have suggested that pulmonary hypoplasia (PH) may be associated with congenital heart diseases (CHDs).ObjectiveTo determine the prevalence of
Externí odkaz:
https://doaj.org/article/701308db2f264f648e19dd35b05a2b9e
Autor:
Daphné Lehalle, Ange‐Line Bruel, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Mirna Assoum, Jeanne Amiel, Geneviève Baujat, Bettina Bessieres, Stefania Bigoni, Lydie Burglen, Guillaume Captier, Rodolphe Dard, Patrick Edery, Fernanda Fortunato, David Geneviève, Alice Goldenberg, Laurent Guibaud, Delphine Héron, Muriel Holder‐Espinasse, Damien Lederer, Fermina Lopez Grondona, Sarah Grotto, Sandrine Marlin, Gwenaël Nadeau, Arnaud Picard, Massimiliano Rossi, Joëlle Roume, Damien Sanlaville, Pascale Saugier‐Veber, Stéphane Triau, Maria Irene Valenzuela Palafoll, Clémence Vanlerberghe, Lionel Van Maldergem, Myriam Vezain, Catherine Vincent‐Delorme, Einat Zivi, Julien Thevenon, Pierre Vabres, Christel Thauvin‐Robinet, Patrick Callier, Laurence Faivre
Publikováno v:
American Journal of Medical Genetics Part A. 188:2036-2047
Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sak
Autor:
Joanna Sichitiu, Nicolas Bourgon, Tiffany Guilleminot, Bettina Bessieres, Marianne Leruez-Ville, Yves Ville
Publikováno v:
American journal of obstetricsgynecology MFM. 4(6)
SARS-CoV-2-related placentitis shows distinctive histologic characteristics, and its impact on perinatal outcomes is increasingly under scrutiny. We present two such cases in the third trimester displaying mild maternal clinical symptoms and associat
Autor:
Arianna, Fiorentino, Armelle, Christophorou, Filippo, Massa, Serge, Garbay, Magali, Chiral, Mette, Ramsing, Maria, Rasmussen, Marie-Claire, Gubler, Bettina, Bessieres, Laurence, Heidet, Evelyne, Fischer, Marco, Pontoglio
Publikováno v:
Fiorentino, A, Christophorou, A, Massa, F, Garbay, S, Chiral, M, Ramsing, M, Rasmussen, M, Gubler, M-C, Bessieres, B, Heidet, L, Fischer, E & Pontoglio, M 2020, ' Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease ', Cell Reports, vol. 33, no. 4, 108304 . https://doi.org/10.1016/j.celrep.2020.108304
Cell Reports
Cell Reports, Elsevier Inc, 2020, 33 (4), pp.108304. ⟨10.1016/j.celrep.2020.108304⟩
Cell Reports, 2020, 33 (4), pp.108304. ⟨10.1016/j.celrep.2020.108304⟩
Cell Reports
Cell Reports, Elsevier Inc, 2020, 33 (4), pp.108304. ⟨10.1016/j.celrep.2020.108304⟩
Cell Reports, 2020, 33 (4), pp.108304. ⟨10.1016/j.celrep.2020.108304⟩
International audience; The architecture of renal glomeruli is acquired through intricate and still poorly understood developmental steps. In our study we identify a crucial glomerular morphogenetic event in nephrogenesis that drives the remodeling/s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7267091dcb606498e51f563aadcceec7
https://findresearcher.sdu.dk:8443/ws/files/175869624/PIIS2211124720312936.pdf
https://findresearcher.sdu.dk:8443/ws/files/175869624/PIIS2211124720312936.pdf
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 13:287
Autor:
Francesca Romana Grati, Bettina Bessieres-Grattagliano, Claire Beneteau, Nina Horelli-Kuitunen, François Vialard, D. Molina-Gomes, Jose Antonio Martínez-Conejero, Céline Dupont, Kwong Wai Choy, Azzedine Aboura, Sylvie Jaillard, Justine Besseau-Ayasse, Giuseppe Simoni, Marie-Laure Maurin, Aurélie Coussement, Anne-Claude Tabet, Jérôme Toutain, Gustavo Ayala, Brigitte Benzacken
Publikováno v:
Prenatal Diagnosis. 35:35-43
Microduplication 22q11.2 is primarily characterized by a highly variable clinical phenotype, which ranges from apparently normal or slightly dysmorphic features (in the presence or absence of learning disorders) to severe malformations with profound
Autor:
Bettina Bessieres
Publikováno v:
Annales de Pathologie. 30:280-284
Autor:
Pascale Marcorelles, Férechté Encha-Razavi, Bettina Bessieres-Grattagliano, Sandrine Vuillaumier-Barrot, Dominique Carles, F. Pelluard-Nehmé, Jelena Martinovic, Louise Devisme, S. Triau, Sophie Patrier, Fabien Guimiot, Maryse Bonnières, Nicole Laurent, Dominique Bonneau, S. Delahaye, Nathalie Seta, A. Liprandi, Dominique Figarella-Branger, C. Lebizec, Annie Laquerrière, Madeleine Joubert, C. Rouleau-Dubois, C. Bouchet, M.J. Perez, E. Alanio, Marie Gonzales, B. Gasser, Philippe Loget, Catherine Fallet-Bianco, F. Menez, N. Bigi, Anne Bazin, Dominique Gaillard, Patricia Blanchet
Publikováno v:
Human Mutation. 28:1020-1027
Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and muscular dystrophy, or mus
Autor:
Bettina Bessieres
Publikováno v:
Annales de Pathologie. 30:310-312