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

189 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A. El Khattabi L, et al. Among authors: ravel a. Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351778 Free PMC article.
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
Mégarbané A, Noguier F, Stora S, Manchon L, Mircher C, Bruno R, Dorison N, Pierrat F, Rethoré MO, Trentin B, Ravel A, Morent M, Lefranc G, Piquemal D. Mégarbané A, et al. Among authors: ravel a. Eur J Hum Genet. 2013 Nov;21(11):1253-9. doi: 10.1038/ejhg.2013.24. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422941 Free PMC article.
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.
Kong XF, Worley L, Rinchai D, Bondet V, Jithesh PV, Goulet M, Nonnotte E, Rebillat AS, Conte M, Mircher C, Gürtler N, Liu L, Migaud M, Elanbari M, Habib T, Ma CS, Bustamante J, Abel L, Ravel A, Lyonnet S, Munnich A, Duffy D, Chaussabel D, Casanova JL, Tangye SG, Boisson-Dupuis S, Puel A. Kong XF, et al. Among authors: ravel a. J Clin Immunol. 2020 Aug;40(6):807-819. doi: 10.1007/s10875-020-00803-9. Epub 2020 Jun 22. J Clin Immunol. 2020. PMID: 32572726 Free PMC article.
Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.
Ripoll C, Rivals I, Ait Yahya-Graison E, Dauphinot L, Paly E, Mircher C, Ravel A, Grattau Y, Bléhaut H, Mégarbane A, Dembour G, de Fréminville B, Touraine R, Créau N, Potier MC, Delabar JM. Ripoll C, et al. Among authors: ravel a. PLoS One. 2012;7(8):e41616. doi: 10.1371/journal.pone.0041616. Epub 2012 Aug 9. PLoS One. 2012. PMID: 22912673 Free PMC article.
Anthropometric charts and congenital anomalies in newborns with Down syndrome.
Mircher C, Toulas J, Cieuta-Walti C, Marey I, Conte M, González Briceño L, Tanguy ML, Rethore MO, Ravel A. Mircher C, et al. Among authors: ravel a. Am J Med Genet A. 2017 Aug;173(8):2166-2175. doi: 10.1002/ajmg.a.38305. Epub 2017 Jun 2. Am J Med Genet A. 2017. PMID: 28574650
189 results