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2023

Articles

51 - 

Hepatitis E Virus Infection in Pediatric Oncology

Anna Lenglart, Celine Chappe, Isabelle Grulois, Francoise Herve, Virginie Gandemer et al.

Journal of Pediatric Hematology/Oncology, 2023, 45 (1), pp.E150-E153.

DOI : https://doi.org/10.1097/MPH.0000000000002539

Pubmed : 36598968

 

52 - 

Studying Muscle Transcriptional Dynamics at Single-molecule Scales in Drosophila

Emma Leroux, Nourhene Ammar, Savannah Moinet, Thierry Pecot, Hadi Boukhatmi et al.

Studying Muscle Transcriptional Dynamics at Single-molecule Scales in Drosophila. Journal of visualized experiments : JoVE, 2023, 199,

DOI : https://doi.org/10.3791/65713

Pubmed : 37747217

 

53 - 

Genomic Diversity and Runs of Homozygosity in Bernese Mountain Dogs

Anna Letko, Benoit Hedan, Anna Snell, A Harris, Vidhya Jagannathan et al.

Genes, 2023, 14 (3),

DOI : https://doi.org/10.3390/genes14030650

Pubmed : 36980922

 

54 - 

Prognostic impact of RUNX1 mutations and deletions in pediatric acute myeloid leukemia: results from the French ELAM02 study group

Lucille Lew-Derivry, Alice Marceau-Renaut, Laurène Fenwarth, Wendy Cuccuini, Paola Ballerini et al.

Leukemia, 2023, 37 (8), pp.1723-1726.

DOI : https://doi.org/10.1038/s41375-023-01931-y

Pubmed : 37328541

 

55 - 

Genome-wide DNA methylation analysis identifies potent CpG signature for temzolomide response in non-G-CIMP glioblastomas with unmethylated MGMT promoter: MGMT-dependent roles of GPR81

Bao-Bao Liang, Yu-Hong Wang, Jingjing Huang, Shuai Lin, Guo-Chao Mao et al.

CNS Neuroscience & Therapeutics, 2023,

DOI : https://doi.org/10.1111/cns.14465

Pubmed : 37830163

 

56 - 

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples

L. Mary, M. Fradin, L. Pasquier, C. Quélin, P. Loget et al.

European Journal of Medical Genetics, 2023, 66 (6), pp.104748.

DOI : https://doi.org/10.1016/j.ejmg.2023.104748

Pubmed : 36948288

 

57 - 

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing

Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Séverine Mazaud-Guittot et al.

Genes, 2023, 14 (2), pp.273.

DOI : https://doi.org/10.3390/genes14020273

Pubmed : 36833200

 

58 - 

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group

Emmanuelle Masson, Wen-Bin Zou, Na Pu, Vinciane Rebours, Emmanuelle Génin et al.

Pancreatology, 2023, 23 (5), pp.491-506.

DOI : https://doi.org/10.1016/j.pan.2023.04.004

 

59 - 

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries Mise à jour de la base de données UMD-VHL : classification de 164 variants difficiles sur la base de la corrélation génotype-phénotype parmi 605 entrées

Gregory Mougel, Amira Mohamed, Nelly Burnichon, Sophie Giraud, Pascal Pigny et al.

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries: Cancer genetics. Journal of Medical Genetics, In press, J Med Chem,

DOI : https://doi.org/10.1136/jmg-2023-109550

Pubmed : 37979962

 

60 - 

Editorial: Chromatin structure and function

Laxmi Narayan Mishra, Christophe Thiriet, Dileep Vasudevan

Frontiers in Genetics, 2023, 14,

DOI : https://doi.org/10.3389/fgene.2023.1140534

Pubmed : 36824440