Richard P - Search Results

1

Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.

Forissier JF, Bonne G, Bouchier C, Duboscq-Bidot L, Richard P, Wisnewski C, Briault S, Moraine C, Dubourg O, Schwartz K, Komajda M. Forissier JF, et al. Among authors: richard p. Eur J Heart Fail. 2003 Dec;5(6):821-5. doi: 10.1016/s1388-9842(03)00149-1. Eur J Heart Fail. 2003. PMID: 14675861 Free article.

2

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.

Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D. Vytopil M, et al. Among authors: richard p. Neuromuscul Disord. 2002 Dec;12(10):958-63. doi: 10.1016/s0960-8966(02)00178-5. Neuromuscul Disord. 2002. PMID: 12467752

3

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project. Richard P, et al. Circulation. 2003 May 6;107(17):2227-32. doi: 10.1161/01.CIR.0000066323.15244.54. Epub 2003 Apr 21. Circulation. 2003. PMID: 12707239

4

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

Waldmüller S, Sakthivel S, Saadi AV, Selignow C, Rakesh PG, Golubenko M, Joseph PK, Padmakumar R, Richard P, Schwartz K, Tharakan JM, Rajamanickam C, Vosberg HP. Waldmüller S, et al. Among authors: richard p. J Mol Cell Cardiol. 2003 Jun;35(6):623-36. doi: 10.1016/s0022-2828(03)00050-6. J Mol Cell Cardiol. 2003. PMID: 12788380

5

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

Mörner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenström A. Mörner S, et al. Among authors: richard p. J Mol Cell Cardiol. 2003 Jul;35(7):841-9. doi: 10.1016/s0022-2828(03)00146-9. J Mol Cell Cardiol. 2003. PMID: 12818575

6

Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

Brito D, Richard P, Isnard R, Pipa J, Komajda M, Madeira H. Brito D, et al. Among authors: richard p. Rev Port Cardiol. 2003 Dec;22(12):1445-61. Rev Port Cardiol. 2003. PMID: 15008060 English, Portuguese.

7

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. Mercuri E, et al. Among authors: richard p. Arch Neurol. 2004 May;61(5):690-4. doi: 10.1001/archneur.61.5.690. Arch Neurol. 2004. PMID: 15148145

8

Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case.

Charron P, Héron D, Gargiulo M, Feingold J, Oury JF, Richard P, Komajda M. Charron P, et al. Among authors: richard p. Prenat Diagn. 2004 Sep;24(9):701-3. doi: 10.1002/pd.969. Prenat Diagn. 2004. PMID: 15386449

9

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.

Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmüller H. Walter MC, et al. Among authors: richard p. Neuromuscul Disord. 2005 Jan;15(1):40-4. doi: 10.1016/j.nmd.2004.09.007. Neuromuscul Disord. 2005. PMID: 15639119

10

Genetics of laminopathies.

Ben Yaou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G. Ben Yaou R, et al. Among authors: richard p. Novartis Found Symp. 2005;264:81-90; discussion 90-97, 227-30. Novartis Found Symp. 2005. PMID: 15773749 Review.

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