Zobrazeno 1 - 10
of 371
pro vyhledávání: '"Bouvagnet, P."'
Autor:
Anna‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in
Externí odkaz:
https://doaj.org/article/6704bc2b360d4526a5cfba13553c780b
Publikováno v:
BMC Cardiovascular Disorders, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background Hypoplastic left heart syndrome (HLHS) is a rare but genetically complex and clinically and anatomically severe form of congenital heart disease (CHD). Case presentation Here, we report on the use of rapid prenatal whole-exome seq
Externí odkaz:
https://doaj.org/article/222940d8ceae4c0a9c179513efd7f785
Akademický článek
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Autor:
Athar Khalil, Rachel Tanos, Nehmé El-Hachem, Mazen Kurban, Patrice Bouvagnet, Fadi Bitar, Georges Nemer
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
Abstract Congenital heart disease is the leading cause of death in the first year of life. Mutations only in few genes have been linked to some cases of CHD. Thalidomide was used by pregnant women for morning sickness but was removed from the market
Externí odkaz:
https://doaj.org/article/159fba6c65b64a8ab565eb39390cea36
Akademický článek
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Autor:
Škorić-Milosavljević, D, Tadros, R, Bosada, FM, Tessadori, F, van Weerd, JH, Woudstra, OI, Tjong, FVY, Lahrouchi, N, Bajolle, F, Cordell, HJ, Agopian, AJ, Blue, GM, Barge-Schaapveld, DQCM, Gewillig, M, Preuss, C, Lodder, EM, Barnett, P, Ilgun, A, Beekman, L, van Duijvenboden, K, Bokenkamp, R, Müller-Nurasyid, M, Vliegen, HW, Konings, TC, van Melle, JP, van Dijk, APJ, van Kimmenade, RRJ, Roos-Hesselink, JW, Sieswerda, GT, Meijboom, F, Abdul-Khaliq, H, Berger, F, Dittrich, S, Hitz, M-P, Moosmann, J, Riede, F-T, Schubert, S, Galan, P, Lathrop, M, Munter, HM, Al-Chalabi, A, Shaw, CE, Shaw, PJ, Morrison, KE, Veldink, JH, van den Berg, LH, Evans, S, Nobrega, MA, Aneas, I, Radivojkov-Blagojević, M, Meitinger, T, Oechslin, E, Mondal, T, Bergin, L, Smythe, JF, Altamirano-Diaz, L, Lougheed, J, Bouma, BJ, Chaix, M-A, Kline, J, Bassett, AS, Andelfinger, G, van der Palen, RLF, Bouvagnet, P, Clur, S-AB, Breckpot, J, Kerstjens-Frederikse, WS, Winlaw, DS, Bauer, UMM, Mital, S, Goldmuntz, E, Keavney, B, Bonnet, D, Mulder, BJ, Tanck, MWT, Bakkers, J, Christoffels, VM, Boogerd, CJ, Postma, AV, Bezzina, CR
Publikováno v:
Circ Res
Circulation Research. Lippincott Williams & Wilkins
Circulation Research, 130, 166-180
Circulation Research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research, 130, 2, pp. 166-180
Circulation Research, 130(2), 166-180. Lippincott Williams & Wilkins
Circulation research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Paediatrics Publications
Circulation research, 130(2), 166-180. Lippincott Williams and Wilkins
KORA-Study Group 2022, ' Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries ', Circulation Research, vol. 130, no. 2, pp. 166-180 . https://doi.org/10.1161/CIRCRESAHA.120.317107
Circ. Res. 130, 166-180 (2021)
Circulation Research, 130(2), 166-180. Lippincott Williams and Wilkins
Circulation Research. Lippincott Williams & Wilkins
Circulation Research, 130, 166-180
Circulation Research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research, 130, 2, pp. 166-180
Circulation Research, 130(2), 166-180. Lippincott Williams & Wilkins
Circulation research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Paediatrics Publications
Circulation research, 130(2), 166-180. Lippincott Williams and Wilkins
KORA-Study Group 2022, ' Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries ', Circulation Research, vol. 130, no. 2, pp. 166-180 . https://doi.org/10.1161/CIRCRESAHA.120.317107
Circ. Res. 130, 166-180 (2021)
Circulation Research, 130(2), 166-180. Lippincott Williams and Wilkins
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majori
Autor:
Mathilde Louvigne, Stephanie Rouleau, Emmanuelle Caldagues, Isabelle Souto, Yanis Montcho, Audrey Migraine Bouvagnet, Olivier Baud, Jean Claude Carel, Geraldine Gascoin, Regis Coutant
Publikováno v:
PLoS ONE, Vol 13, Iss 5, p e0195383 (2018)
The objective was to determine whether maternal nutritional factors are associated with transient neonatal hyperinsulinism (HI).Case control study in 4 French tertiary Obstetrics and Neonatology Departments between 2008 and 2015.Sixty-seven mothers o
Externí odkaz:
https://doaj.org/article/a82587ba1408426b8bfafd374ca11da5
Akademický článek
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Autor:
Céline Augière, Simon Mégy, Rajae El Malti, Anne Boland, Loubna El Zein, Bernard Verrier, André Mégarbané, Jean-François Deleuze, Patrice Bouvagnet
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0127903 (2015)
A Lebanese Maronite family presented with 13 relatives affected by various congenital heart defects (mainly atrial septal defects), conduction tissue anomalies and midline defects. No mutations were found in GATA4 and NKX2-5.A set of 399 poly(AC) mar
Externí odkaz:
https://doaj.org/article/214610e044c84a40973b2881a07e938b