Latest papers

A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.

Genetic Inversion in Mast Cell-Deficient Wsh Mice Interrupts Corin and Manifests as Hematopoietic and Cardiac Aberrancy

Cytotaxonomy of Simulium siamense Takaoka and Suzuki (Diptera: Simuliidae) in Thailand.

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.

GENETICS: 17q21.31: Not Your Average Genomic Address

Genetics. 17q21.31: not your average genomic address.

The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion.

Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders.

[Frequency of intron 1 inversion of factor VIII gene in Chinese hemophilia A patients with case report of a female patient with heterozygous intron 1 inversion].

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.

Reconstructing ancestral autosomal arrangements in the Anopheles gambiae complex.

Inv(11)(q21q23) fuses MLL to the Notch co-activator mastermind-like 2 in secondary T-cell acute lymphoblastic leukemia.

Evolutionary toggling of the MAPT 17q21.31 inversion region.

Molecular genetic testing of hemophilia A.

[Benefit of human gamete cytogenetics: results and perspectives].

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.

Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping.

Genetic exchange versus genetic differentiation in a medium-sized inversion of Drosophila: the A2/Ast arrangements of Drosophila subobscura.