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

560 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Young J, Metay C, Bouligand J, Tou B, Francou B, Maione L, Tosca L, Sarfati J, Brioude F, Esteva B, Briand-Suleau A, Brisset S, Goossens M, Tachdjian G, Guiochon-Mantel A. Young J, et al. Among authors: goossens m. Hum Reprod. 2012 May;27(5):1460-5. doi: 10.1093/humrep/des022. Epub 2012 Mar 12. Hum Reprod. 2012. PMID: 22416012
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.
Raymond L, Francou B, Petit F, Tosca L, Briand-Suleau A, Metay C, Martinovic J, Cordier AG, Benachi A, Pineau D, Guiochon-Mantel A, Goossens M, Tachdjian G, Brisset S. Raymond L, et al. Among authors: goossens m. Eur J Med Genet. 2015 Nov;58(11):591-6. doi: 10.1016/j.ejmg.2015.09.006. Epub 2015 Sep 16. Eur J Med Genet. 2015. PMID: 26386246
Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility.
Guediche N, Tosca L, Kara Terki A, Bas C, Lecerf L, Young J, Briand-Suleau A, Tou B, Bouligand J, Brisset S, Misrahi M, Guiochon-Mantel A, Goossens M, Tachdjian G. Guediche N, et al. Among authors: goossens m. Reprod Biomed Online. 2012 Jan;24(1):72-82. doi: 10.1016/j.rbmo.2011.08.014. Epub 2011 Sep 10. Reprod Biomed Online. 2012. PMID: 22116069
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.
Brisset S, Slamova Z, Dusatkova P, Briand-Suleau A, Milcent K, Metay C, Simandlova M, Sumnik Z, Tosca L, Goossens M, Labrune P, Zemankova E, Lebl J, Tachdjian G, Sedlacek Z. Brisset S, et al. Among authors: goossens m. Mol Cytogenet. 2014 Feb 28;7(1):17. doi: 10.1186/1755-8166-7-17. Mol Cytogenet. 2014. PMID: 24581273 Free PMC article.
SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.
Briand-Suleau A, Martinovic J, Tosca L, Tou B, Brisset S, Bouligand J, Delattre V, Giurgea I, Bachir J, Folliot P, Goumy C, Francannet C, Guiochon-Mantel A, Benachi A, Vermeesch J, Tachdjian G, Vago P, Goossens M, Métay C. Briand-Suleau A, et al. Among authors: goossens m. Eur J Med Genet. 2014 Mar;57(4):174-80. doi: 10.1016/j.ejmg.2013.12.013. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486774 Free article.
Genotype-phenotype correlation in 13q13.3-q21.3 deletion.
Tosca L, Brisset S, Petit FM, Metay C, Latour S, Lautier B, Lebas A, Druart L, Picone O, Mas AE, Prévot S, Tardieu M, Goossens M, Tachdjian G. Tosca L, et al. Among authors: goossens m. Eur J Med Genet. 2011 Sep-Oct;54(5):e489-94. doi: 10.1016/j.ejmg.2011.06.004. Epub 2011 Jun 21. Eur J Med Genet. 2011. PMID: 21741501
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Tosca L, Drévillon L, Mouka A, Lecerf L, Briand A, Ortonne V, Benoit V, Brisset S, Van Maldergem L, Laudouar Q, Heide S, Goossens M, Giurgea I, Tachdjian G, Métay C. Tosca L, et al. Among authors: goossens m. Mol Genet Genomic Med. 2021 Nov;9(11):e1645. doi: 10.1002/mgg3.1645. Epub 2021 Sep 28. Mol Genet Genomic Med. 2021. PMID: 34582124 Free PMC article.
560 results