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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2012 1
2013 2
2014 3
2015 1
2016 2
2017 3
2018 2
2019 3
2020 6
2021 4
2022 2
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

30 results

Results by year

Filters applied: . Clear all
Page 1
Immunodeficiency and Lymphoma in Jacobsen Syndrome.
Nigolian H, Nieke JP, Chevallier M, Stathaki E, Sloan-Béna F, Carminho-Rodrigues MT, Jandus P. Nigolian H, et al. Among authors: sloan bena f. J Investig Allergol Clin Immunol. 2022 Oct 11;32(5):408-409. doi: 10.18176/jiaci.0777. Epub 2022 Jan 14. J Investig Allergol Clin Immunol. 2022. PMID: 35029149 Free article. No abstract available.
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Fokstuen S, et al. Among authors: sloan bena f. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Marconi C, Lemmens L, Masclaux F, Mattioli F, Fluss J, Extermann P, Mendez P, Leuchter RH, Stathaki E, Laurent S, Hammar E, Vannier A, Varvagiannis K, Guipponi M, Sloan-Bena F, Blouin JL, Abramowicz M, Fokstuen S. Marconi C, et al. Among authors: sloan bena f. Clin Genet. 2021 Sep;100(3):329-333. doi: 10.1111/cge.14004. Epub 2021 Jun 14. Clin Genet. 2021. PMID: 34037256 Free PMC article.
MECP2 duplication syndrome in a patient from Cameroon.
Tekendo-Ngongang C, Dahoun S, Nguefack S, Moix I, Gimelli S, Zambo H, Morris MA, Sloan-Béna F, Wonkam A. Tekendo-Ngongang C, et al. Among authors: sloan bena f. Am J Med Genet A. 2020 Apr;182(4):619-622. doi: 10.1002/ajmg.a.61510. Epub 2020 Feb 13. Am J Med Genet A. 2020. PMID: 32052928 Free PMC article.
Effects of eight neuropsychiatric copy number variants on human brain structure.
Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium; Simons Searchlight Consortium; Melie-Garcia L, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Chakravarty M, Bzdok D, Bearden CE, Draganski B, Jacquemont S. Modenato C, et al. Transl Psychiatry. 2021 Jul 20;11(1):399. doi: 10.1038/s41398-021-01490-9. Transl Psychiatry. 2021. PMID: 34285187 Free PMC article.
Adolescence is the starting point of sex-dichotomous COMT genetic effects.
Sannino S, Padula MC, Managò F, Schaer M, Schneider M, Armando M, Scariati E, Sloan-Bena F, Mereu M, Pontillo M, Vicari S, Contarini G, Chiabrera C, Pagani M, Gozzi A, Eliez S, Papaleo F. Sannino S, et al. Among authors: sloan bena f. Transl Psychiatry. 2017 May 30;7(5):e1141. doi: 10.1038/tp.2017.109. Transl Psychiatry. 2017. PMID: 28556830 Free PMC article.
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
Stamoulis G, Garieri M, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Sloan-Béna F, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE. Stamoulis G, et al. Among authors: sloan bena f. Nat Commun. 2019 Oct 3;10(1):4495. doi: 10.1038/s41467-019-12273-8. Nat Commun. 2019. PMID: 31582743 Free PMC article.
30 results