Latest papers

Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin.

Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Alteration in the gene encoding protein tyrosine phosphatase nonreceptor type 6 (PTPN6/SHP1) may contribute to neutrophilic dermatoses.

A novel hepatocyte nuclear factor-1β (MODY 5) gene mutation in a Romanian boy with pancreatic calcifications, renal and hepatic dysfunction.

[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].

[Preimplantation genetic diagnosis (PGD) in carriers of chromosomal translocations: possibilities and results].

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

Alteration in the gene encoding protein tyrosine phosphatase nonreceptor type 6 (PTPN6/SHP1) may contribute to neutrophilic dermatoses.

Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.

Identification of BRCA1-deficient ovarian cancers.

Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.

Genetic polymorphism at codon 10 of the transforming growth factor-beta1 gene in patients with alcoholic liver cirrhosis. LID - 10.3350/kjhep.2011.17.1.37 [doi]

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Association between single nucleotide polymorphisms in the cyclooxygenase-2, tumor necrosis factor-α, and vascular endothelial growth factor-A genes, and susceptibility to hepatocellular carcinoma.

APC +/- alters colonic fibroblast proteome in FAP.

Perilipin deficiency and autosomal dominant partial lipodystrophy.

Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation.

Bleeding tendency and impaired platelet function in a patient carrying a heterozygous mutation in the thromboxane A2 receptor. LID - 10.1111/j.1538-7836.2011.04245.x [doi]