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

146 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.
Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. Callier P, et al. Among authors: mugneret f. Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447. Am J Med Genet A. 2008. PMID: 18629884
A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.
Donzel-Javouhey A, Thauvin-Robinet C, Cusin V, Madinier N, Manceau E, Dipanda D, Dulieu V, Mugneret F, Huet F, Teyssier JR, Faivre L. Donzel-Javouhey A, et al. Among authors: mugneret f. Am J Med Genet A. 2006 Jul 15;140(14):1603-7. doi: 10.1002/ajmg.a.31314. Am J Med Genet A. 2006. PMID: 16763963 No abstract available.
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
El Chehadeh-Djebbar S, Faivre L, Moncla A, Aral B, Missirian C, Popovici C, Rump P, Van Essen A, Frances AM, Gigot N, Cusin V, Masurel-Paulet A, Gueneau L, Payet M, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Balikova I, Teyssier JR, Mugneret F, Thauvin-Robinet C, Callier P. El Chehadeh-Djebbar S, et al. Among authors: mugneret f. J Med Genet. 2011 Nov;48(11):e1. doi: 10.1136/jmg.2011.088948. Epub 2011 Feb 17. J Med Genet. 2011. PMID: 21330571 No abstract available.
Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia.
Callier P, Faivre L, Marle N, Thauvin-Robinet C, Guy J, Mosca AL, D'Athis P, Masurel-Paulet A, Assous D, Teyssier JR, Huet F, Mugneret F. Callier P, et al. Among authors: mugneret f. Am J Med Genet A. 2009 Jun;149A(6):1323-6. doi: 10.1002/ajmg.a.32857. Am J Med Genet A. 2009. PMID: 19449416 No abstract available.
Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L. Thauvin-Robinet C, et al. Among authors: mugneret f. Am J Med Genet A. 2009 Aug;149A(8):1846-9. doi: 10.1002/ajmg.a.32981. Am J Med Genet A. 2009. PMID: 19610098 No abstract available.
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.
Mosca AL, Callier P, Faivre L, Marle N, Mejean N, Thauvin-Robinet C, Masurel-Paulet A, Madinier N, Durand C, Couillaud G, Ragot S, Huet F, Teyssier JR, Mugneret F. Mosca AL, et al. Among authors: mugneret f. Am J Med Genet A. 2009 Mar;149A(3):475-81. doi: 10.1002/ajmg.a.32665. Am J Med Genet A. 2009. PMID: 19213026
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L. Thauvin-Robinet C, et al. Among authors: mugneret f. Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888. Hum Mutat. 2009. PMID: 19023858
146 results