V. Marquet

发表

GM2 gangliosidosis AB variant: first case of late onset and review of the literature

F. Lamari, P. Calvas, L. Richard, 2022, Neurological Sciences.

Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation.

C. Yardin, S. Bourthoumieu, A. Dobrescu, 2017, European journal of medical genetics.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

GM2 gangliosidosis AB variant: first case of late onset and review of the literature

F. Lamari, P. Calvas, L. Richard, 2022, Neurological Sciences.

Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation

H. Acloque, I. Raymond-Letron, H. Barasc, 2016, Chromosome Research.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.

Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

L. Bouneau, P. Calvas, A. Vigouroux-Castera, 2015, Clinical case reports.

Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11.

C. Yardin, B. Dauriat, S. Bourthoumieu, 2019, Morphologie : bulletin de l'Association des anatomistes.

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

M. Fenech, C. Yardin, A. Bennaceur-Griscelli, 2020, Genes.

Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility.

M. Fenech, C. Yardin, A. Bennaceur-Griscelli, 2020, Fertility and sterility.