Latest papers

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

A 20.5-Mb germline deletion of 13q13.1-->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation.

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.

[Acute leukemia of ambiguous lineage with monosomy 7 and Philadelphia chromosome].

Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32.

New insights into 5q- syndrome as a ribosomopathy.

[Genetic and molecular abnormalities of glioblastomas (GBM)].

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.

[Evaluation of a multiplex PCR kit used for detecting Y chromosome microdeletions].

Duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene.

Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.

[A case of del(16)(q22) in a patient with acute myeloid leukemia with complex karyotype].

Chromosome size differences may affect meiosis and genome size.

The tumour-suppressive miR-29a/b1 cluster is regulated by CEBPA and blocked in human AML.

A cytological map of the short arm of rye chromosome 1R constructed with 1R dissection stocks of common wheat and PCR-based markers.