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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. Méjécase C, et al. Among authors: boyard f. PLoS One. 2016 Dec 15;11(12):e0168271. doi: 10.1371/journal.pone.0168271. eCollection 2016. PLoS One. 2016. PMID: 27977773 Free PMC article.
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Boulanger-Scemama E, Mohand-Saïd S, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Sahel JA, Zeitz C, Audo I. Boulanger-Scemama E, et al. Among authors: boyard f. Int J Mol Sci. 2019 Sep 30;20(19):4854. doi: 10.3390/ijms20194854. Int J Mol Sci. 2019. PMID: 31574917 Free PMC article.
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I. El Shamieh S, et al. Among authors: boyard f. Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016/j.ajhg.2014.03.005. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680887 Free PMC article.
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Boulanger-Scemama E, et al. Among authors: boyard f. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3. Orphanet J Rare Dis. 2015. PMID: 26103963 Free PMC article.
MERTK mutation update in inherited retinal diseases.
Audo I, Mohand-Said S, Boulanger-Scemama E, Zanlonghi X, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C. Audo I, et al. Among authors: boyard f. Hum Mutat. 2018 Jul;39(7):887-913. doi: 10.1002/humu.23431. Epub 2018 May 23. Hum Mutat. 2018. PMID: 29659094 Free article. Review.
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M, Mohand-Saïd S, Dhaenens CM, Boyard F, Démontant V, Andrieu C, Antonio A, Condroyer C, Foussard M, Méjécase C, Eandi CM, Sahel JA, Zeitz C, Audo I. Nassisi M, et al. Among authors: boyard f. Int J Mol Sci. 2018 Jul 27;19(8):2196. doi: 10.3390/ijms19082196. Int J Mol Sci. 2018. PMID: 30060493 Free PMC article.
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I. Méjécase C, et al. Among authors: boyard f. Clin Genet. 2019 Feb;95(2):329-333. doi: 10.1111/cge.13453. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30267408
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Zeitz C, et al. Among authors: boyard f. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30825406
16 results