Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Eric Bieth"'
Autor:
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre
Publikováno v:
International journal of molecular sciences, 23(3):1815. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (3), pp.1815. ⟨10.3390/ijms23031815⟩
International Journal of Molecular Sciences, Vol 23, Iss 1815, p 1815 (2022)
International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1815
International Journal of Molecular Sciences, 23(3):1815. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (3), pp.1815. ⟨10.3390/ijms23031815⟩
International Journal of Molecular Sciences, Vol 23, Iss 1815, p 1815 (2022)
International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1815
International Journal of Molecular Sciences, 23(3):1815. Multidisciplinary Digital Publishing Institute (MDPI)
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168c3c0732bf582bfc68a9c24ec285d1
http://hdl.handle.net/10447/547094
http://hdl.handle.net/10447/547094
Autor:
Michel Galinier, Michel Haïssaguerre, Benjamin Monteil, Delphine Dupin-Deguine, Didier Carrié, Frederic Sacher, Quentin Voglimacci-Stephanopoli, Franck Mandel, Anne Rollin, Mélèze Hocini, Philippe Maury, Eric Bieth, Pierre Mondoly, Fatiha Sebai
Publikováno v:
Pacing and clinical electrophysiology : PACEREFERENCES. 43(4)
Background Brugada syndrome (BrS) is sometimes diagnosed because of chest pain. Prevalence and characteristics of such BrS patients are unknown. Methods A total of 200 BrS probands were retrospectively included. BrS diagnosis made because of chest pa
Autor:
Claire Guissart, Victoria Viart, Eric Bieth, Anne Girardet, Cécile Rouzier, Marie-Claire Vincent, Vanessa Debant, Mireille Claustres, Philippe Khau Van Kien, Emmanuelle Haquet, Caroline Raynal, Marie-Pierre Brechard, Frédéric Tran Mau Them, Michel Koenig, Jacques Puechberty, Charlotte Dubucs, Victoria Pritchard, Amandine Boureau-Wirth
Publikováno v:
Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy, Karger, 2019, 45 (6), pp.403-412. ⟨10.1159/000489776⟩
Fetal Diagnosis and Therapy, Karger, 2019, 45 (6), pp.403-412. ⟨10.1159/000489776⟩
Background: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a univ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5243e143fc178a947bc04165f5bebd52
https://hal.umontpellier.fr/hal-02434874
https://hal.umontpellier.fr/hal-02434874
Publikováno v:
médecine/sciences. 31:853-860
Prader-Willi syndrome is a neurodevelopmental disorder caused by the lack of expression of imprinted genes of the chromosomal region 15q11-q12. Diagnosis can now be made in the first months of life, allowing a precise description of the natural histo
Autor:
Eric Bieth, Isabelle Bailleul-Forestier, Claude Cances, Marie-Cécile Valéra, Michel Longy, Frédéric Vaysse
Publikováno v:
European Journal of Medical Genetics. 58:300-304
Proteus syndrome (PS) is a sporadic and rare congenital disorder characterized by a patchy or mosaic postnatal overgrowth, sometimes involving the face. The onset of overgrowth typically occurs in infancy and can commonly involve skin, connective tis
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
Background PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. Methods Data were co
Autor:
Jacques Benesteau, Samantha Leonard, Julie Plaisancié, Patrick Calvas, Sophie Julia, Eric Bieth, Adeline Vigouroux, Laurence Bouneau, Christelle Garnier, Georges Bourrouillou, Claude Cances
Publikováno v:
European Journal of Medical Genetics. 57:47-53
Pure distal monosomy of the long arm of chromosome 10 is a rare cytogenetic abnormality. The location and size of the deletions described in this region are variable. Nevertheless, the patients share characteristic facial appearance, variable cogniti
Autor:
Michel Abbal, Judith Fillaux, J.-L. Rittié, M. Murris, Bernard Pipy, Antoine Berry, F. Brémont, Sophie Cassaing, Jean-François Magnaval, Christine Segonds, Eric Bieth, Laurent Tétu
Publikováno v:
Scandinavian Journal of Infectious Diseases. 44:842-847
Cystic fibrosis (CF) patients presenting with persistent carriage of, or sensitization to, Aspergillus fumigatus are often treated with antifungal therapies because the presence of the fungus is commonly thought to impede lung function, even in the a
Autor:
Catherine Prost-Squarcioni, Pascale Saugier-Veber, Yves Dulac, Frédéric Vaysse, Thomas Edouard, Alain Verloes, Georges Bourrouillou, Maithé Tauber, Eric Bieth, Hélène Cavé
Publikováno v:
European Journal of Medical Genetics. 53:29-34
Polyvalvular heart disease has been reported in a handful of "private" syndromes that have been recently suggested to represent a single dominantly inherited condition, the polyvalvular heart disease syndrome. We report five cases in two unrelated fa
Autor:
Alexandre Duparc, Elisabeth Somody, Philippe Maury, Eric Bieth, Pascale Richard, Pascal Cintas, Marc Delay
Publikováno v:
Pacing and Clinical Electrophysiology. 32:410-415
We present the first form of laminopathy connected with a new mutation of the lamin A/C gene expressed by dilated cardiomyopathy and partial atrial standstill associated with Charcot-Marie-Tooth type 2 axonal neuropathy. The rapid development of the