Sloan-Béna F - Search Results

1

Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.

Sloan-Béna F, Philippe C, LeHeup B, Wuilque F, Levy ER, Chéry M, Jonveaux P, Monaco AP. Sloan-Béna F, et al. J Med Genet. 1998 Feb;35(2):146-50. doi: 10.1136/jmg.35.2.146. J Med Genet. 1998. PMID: 9507395 Free PMC article.

2

Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.

Masri A, Gimelli S, Hamamy H, Sloan-Béna F. Masri A, et al. Am J Med Genet A. 2014 May;164A(5):1254-61. doi: 10.1002/ajmg.a.36412. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478242

3

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. 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.

4

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

Capra V, Mascelli S, Garrè ML, Nozza P, Vaccari C, Bricco L, Sloan-Béna F, Gimelli S, Cuoco C, Gimelli G, Tassano E. Capra V, et al. PLoS One. 2013;8(3):e57910. doi: 10.1371/journal.pone.0057910. Epub 2013 Mar 6. PLoS One. 2013. PMID: 23483941 Free PMC article.

5

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

Tassano E, Buttgereit J, Bader M, Lerone M, Divizia MT, Bocciardi R, Napoli F, Pala G, Sloan-Béna F, Gimelli S, Gimelli G. Tassano E, et al. PLoS One. 2013 Jun 21;8(6):e66048. doi: 10.1371/journal.pone.0066048. Print 2013. PLoS One. 2013. PMID: 23805197 Free PMC article.

6

Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.

Tekendo-Ngongang C, Dahoun S, Nguefack S, Gimelli S, Sloan-Béna F, Wonkam A. Tekendo-Ngongang C, et al. Mol Syndromol. 2014 Dec;5(6):287-92. doi: 10.1159/000369421. Epub 2014 Nov 29. Mol Syndromol. 2014. PMID: 25565928 Free PMC article.

7

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Lantieri F, Gimelli S, Viaggi C, Stathaki E, Malacarne M, Santamaria G, Grossi A, Mosconi M, Sloan-Béna F, Prato AP, Coviello D, Ceccherini I. Lantieri F, et al. Orphanet J Rare Dis. 2019 Nov 25;14(1):270. doi: 10.1186/s13023-019-1205-3. Orphanet J Rare Dis. 2019. PMID: 31767031 Free PMC article.

8

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A. Lambert N, et al. J Hum Genet. 2018 Jul;63(7):847-850. doi: 10.1038/s10038-018-0459-2. Epub 2018 May 1. J Hum Genet. 2018. PMID: 29717186

9

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. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.

10

Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor.

Cosset E, Vannary T, Sloan-Béna F, Gimelli S, Gerstel E, Krause KH, Marteyn A. Cosset E, et al. Among authors: sloan bena f. Stem Cell Res. 2020 Oct;48:101928. doi: 10.1016/j.scr.2020.101928. Epub 2020 Aug 3. Stem Cell Res. 2020. PMID: 32805538 Free article.

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