Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,045 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.
Coutance G, Labombarda F, Cauderlier E, Belin A, Richard P, Bonne G, Chapon F. Coutance G, et al. Among authors: richard p. Congenit Heart Dis. 2013 Jul-Aug;8(4):E127-9. doi: 10.1111/j.1747-0803.2012.00695.x. Epub 2012 Aug 7. Congenit Heart Dis. 2013. PMID: 22883396
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.
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B. Quijano-Roy S, et al. Among authors: richard p. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417. Ann Neurol. 2008. PMID: 18551513
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
Friedrich FW, Dilanian G, Khattar P, Juhr D, Gueneau L, Charron P, Fressart V, Vilquin JT, Isnard R, Gouya L, Richard P, Hammoudi N, Komajda M, Bonne G, Eschenhagen T, Dubourg O, Villard E, Carrier L. Friedrich FW, et al. Among authors: richard p. Eur J Heart Fail. 2013 Mar;15(3):267-76. doi: 10.1093/eurjhf/hfs178. Epub 2012 Nov 14. Eur J Heart Fail. 2013. PMID: 23152444 Free article.
1,045 results