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

649 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T. Thomas S, et al. Among authors: ville y. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017. Am J Hum Genet. 2012. PMID: 22883145 Free PMC article.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T. Legendre M, et al. Among authors: ville y. J Med Genet. 2012 Nov;49(11):698-707. doi: 10.1136/jmedgenet-2012-100926. Epub 2012 Sep 28. J Med Genet. 2012. PMID: 23024289
First fetal case of the 8q24.3 contiguous genes syndrome.
Wells C, Spaggiari E, Malan V, Stirnemann JJ, Attie-Bitach T, Ville Y, Vekemans M, Bessieres B, Romana S. Wells C, et al. Among authors: ville y. Am J Med Genet A. 2016 Jan;170A(1):239-42. doi: 10.1002/ajmg.a.37411. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26437074
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
Alby C, Malan V, Boutaud L, Marangoni MA, Bessières B, Bonniere M, Ichkou A, Elkhartoufi N, Bahi-Buisson N, Sonigo P, Millischer AE, Thomas S, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T. Alby C, et al. Among authors: ville y. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):36-46. doi: 10.1002/bdra.23472. Epub 2015 Dec 14. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663670
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
Malan V, Lapierre JM, Egloff M, Goidin D, Beaujard MP, Maurin ML, Attié-Bitach T, Bessières B, Bernard JP, Roth P, Stirnemann J, Salomon L, Romana S, Vekemans M, Ville Y, Turleau C. Malan V, et al. Among authors: ville y. Cytogenet Genome Res. 2015;147(2-3):103-10. doi: 10.1159/000442904. Epub 2016 Jan 7. Cytogenet Genome Res. 2015. PMID: 26735902
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.
Darouich S, Boutaud L, Bessières B, Bonnière M, Martinovic J, Mechler C, Alby C, Bernard JP, Roth P, Ville Y, Malan V, Vekemans M, Attié-Bitach T, Encha-Razavi F. Darouich S, et al. Among authors: ville y. Birth Defects Res. 2017 Nov 15;109(19):1586-1595. doi: 10.1002/bdr2.1093. Epub 2017 Jul 31. Birth Defects Res. 2017. PMID: 28758373
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S. Alby C, et al. Among authors: ville y. Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684. Am J Med Genet A. 2018. PMID: 29681083
649 results