Zobrazeno 1 - 10
of 465
pro vyhledávání: '"H, Plauchu"'
Autor:
K.T. Ong, J. Perdu, H. Plauchu, J. De Backer, A. De Paepe, J. Emmerich, X. Jeunemaitre, D. Germain, P. Collignon, G. Georgesco, E. Bozec, J.S. Hulot, S. Laurent, P. Boutouyrie
Publikováno v:
Artery Research, Vol 3, Iss 4 (2009)
Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare severe genetic disease which results from mutations in the gene encoding type III procollagen (COL3A1), characterized by vascular and/or hollow organic ruptures. No treatment is yet validat
Externí odkaz:
https://doaj.org/article/21838dc8200a41ab8d410f6a54aa1c34
Autor:
K.T. Ong, S. Laurent, J. Perdu, H. Plauchu, D. Germain, P. Collignon, G. Georgesco, E. Bozec, B. Laloux, J. De Backer, X. Jeunemaitre, P. Boutouyrie
Publikováno v:
Artery Research, Vol 2, Iss 3 (2008)
Externí odkaz:
https://doaj.org/article/8e6d5435620c4736a67265dba2f98ed3
Autor:
H. Plauchu, Francois Sassolas, F. Arnoult, G. Delorme, Florence Tubach, Sophie Naudion, Guillaume Jondeau, Jacques Ropers, Olivier Milleron, Sylvie Odent, Martine Barthelet, Delphine Detaint, Philippe Aegerter, Nicolas Pangaud, Catherine Boileau, Thomas Edouard, Sophie Dupuis-Girod, Gilbert Habib, Jean-Eric Wolf, David Attias, Laurence Faivre, Adeline Basquin, Patrick Collignon, Yves Dulac, Julie Thomas-Chabaneix
Publikováno v:
European Heart Journal
European Heart Journal, Oxford University Press (OUP): Policy B, 2015, 36 (32), pp.2160--2166. ⟨10.1093/eurheartj/ehv151⟩
European Heart Journal, 2015, 36 (32), pp.2160--2166. ⟨10.1093/eurheartj/ehv151⟩
European Heart Journal, Oxford University Press (OUP): Policy B, 2015, 36 (32), pp.2160--2166. ⟨10.1093/eurheartj/ehv151⟩
European Heart Journal, 2015, 36 (32), pp.2160--2166. ⟨10.1093/eurheartj/ehv151⟩
AIMS: To evaluate the benefit of adding Losartan to baseline therapy in patients with Marfan syndrome (MFS). METHODS AND RESULTS: A double-blind, randomized, multi-centre, placebo-controlled, add on trial comparing Losartan (50 mg when \textless50 kg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d14e142be409feaf36780e80b55389
https://doi.org/10.1093/eurheartj/ehv151
https://doi.org/10.1093/eurheartj/ehv151
Publikováno v:
Journal of Internal Medicine. 274:351-362
Objective Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder related to mutations in one of the coreceptors to the transforming growth factor-β superfamily (ALK1 or endoglin). Besides the obvious vascular symptoms (epistaxis and arte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b4d0d7baf7a3554a7de523120bb5a7b
https://doi.org/10.1111/joim.12098
https://doi.org/10.1111/joim.12098
Autor:
Patrick Collignon, L. Joly, Bruno Leheup, Elodie Gautier, T. Rousseau, Christine Binquet, M.-A. Delrue, Jean-Eric Wolf, Yves Dulac, Frédéric Huet, C. Cassini, G. Mace, Nadine Hanna, Catherine Boileau, Christel Thauvin-Robinet, Laurent Gouya, Sylvie Odent, Julien Thevenon, Paul Sagot, Guillaume Jondeau, Laurence Faivre, H. Plauchu, V. Cusin, Fanny Coron
Publikováno v:
Prenatal Diagnosis. 32:1318-1323
Objectives Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ef761a5153db1f1716ad181ee67753d
https://doi.org/10.1002/pd.4008
https://doi.org/10.1002/pd.4008
Autor:
Arnold Munnich, Fabien Guimiot, H. Plauchu, Maria-Luisa Giovannucci-Uzielli, Patrick Edery, Anee-Lise Delezoide, Luitgard Graul-Neumann, Massimiliano Rossi, Carl-Joachim Partsch, Valérie Malan, Judith Melki, Pierre Chatelain, Thomas Edouard, Kate Gibson, Robin D. Clark, Martin Zenker, Helen Stewart, Johana-Maria van Hagen, Liselot P. van Hest, Gabriele Gillessen-Kaesbach, Clarisse Baumann, Martine Le Merrer, Helen Cox, Anna Rajab, Carol Chu, Elisabeth Steichen-Gersdorf, Valérie Cormier-Daire, Céline Huber, Dominique Bonneau, Daniela Bezerra Da Silva, Virginia Fano, Sheila Unger, Dafne Horovitz, David Sillence
Publikováno v:
European Journal of Human Genetics, 17(3), 395-400. Nature Publishing Group
Huber, C, Delezoide, A L, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, D B, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, M L, Graul-Neumann, L M, van Hagen, J M, van Hest, L P, Horovitz, D, Melki, J, Partsch, C J, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, ' A large-scale mutation search reveals genetic heterogeneity in 3M syndrome ', European Journal of Human Genetics, vol. 17, no. 3, pp. 395-400 . https://doi.org/10.1038/ejhg.2008.200
Huber, C, Delezoide, A L, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, D B, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, M L, Graul-Neumann, L M, van Hagen, J M, van Hest, L P, Horovitz, D, Melki, J, Partsch, C J, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, ' A large-scale mutation search reveals genetic heterogeneity in 3M syndrome ', European Journal of Human Genetics, vol. 17, no. 3, pp. 395-400 . https://doi.org/10.1038/ejhg.2008.200
The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f72c0d8466e69126e3bfed3398a3c8
https://doi.org/10.1038/ejhg.2008.200
https://doi.org/10.1038/ejhg.2008.200
Publikováno v:
Journal de Gynécologie Obstétrique et Biologie de la Reproduction. 35:607-613
The Marfan's syndrome is an autosomal dominant genetic disorder resulting in a diminished strength of connective tissue. The ocular, skeletal and cardiovascular systems are mostly at risk. Principal complications of the disease are aortic dilatation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17874e534040f14614e07a57bdccc99f
https://doi.org/10.1016/s0368-2315(06)76450-x
https://doi.org/10.1016/s0368-2315(06)76450-x
Autor:
Pierre-Yves Hatron, H. Plauchu, Sophie Rivière, Florent Boutitie, A.-L. Capitaine, Sophie Dupuis-Girod, François Gueyffier, P. Kaminsky, Ségolène Gaillard, S. Morinière, Pascal Roy, G. Manfredi
Publikováno v:
Journal of thrombosis and haemostasis
Journal of thrombosis and haemostasis, 2014, 12, pp.1494-502. ⟨10.1111/jth.12654⟩
Journal of thrombosis and haemostasis, 2014, 12, pp.1494-502. ⟨10.1111/jth.12654⟩
SummaryBackground Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder associated with abnormal angiogenesis and disabling epistaxis. Tranexamic acid (TA) has been widely used in the treatment of these severe bleeds but with no properly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e52896763554e58dea0195caa6624641
https://hal.archives-ouvertes.fr/hal-02071525
https://hal.archives-ouvertes.fr/hal-02071525
Publikováno v:
Archives de Pédiatrie. 8:957-960
Resume Les maladies neuromusculaires peuvent poser de delicats problemes de conseil genetique malgre les avancees en matiere de diagnostic apportees par la biologie moleculaire. Observation. – Un enfant de deux ans et trois de ses oncles et tantes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::174491c9c8880203b49101bcf9c176b1
https://doi.org/10.1016/s0929-693x(01)00561-9
https://doi.org/10.1016/s0929-693x(01)00561-9
Autor:
R Puddu, JM Rival, Peter Freisinger, S Peyramaure, F. Muller, H. Plauchu, J. L. Serre, P Bussière, J Godard, Andrea Superti-Furga, B. Simon-Bouy, M. Le Merrer, Renaud Touraine, F Kaper, J F Oury, Rolf E. Brenner, Agnès Taillandier, Etienne Mornet
Publikováno v:
European Journal of Human Genetics. 6:308-314
Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterisation of tissue-nonspecific alkaline pho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed2248940ba201ee48b9a3fccf5e3891
https://doi.org/10.1038/sj.ejhg.5200190
https://doi.org/10.1038/sj.ejhg.5200190