Latest papers

Congenital cervical instability in a patient with camptomelic dysplasia.

Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.

Thanatophoric dysplasia type 2 with encephalocele during the second trimester.

Reduced binding of FGF1 to mutant fibroblast growth factor receptor 3.

Understanding medical futility: two Texas cases illustrate the dilemmas for families, hospitals--and nurses.

K644E/M FGFR3 Mutants Activate Erk1/2 from the Endoplasmic Reticulum through FRS2α and PLCγ-independent Pathways

FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?

Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia.

[Role of FGFs in osteogenesis and chondrogenesis].

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis.

Dichorionic twins discordant for thanatophoric dysplasia managed with selective reduction at 20 weeks' gestation: a case report.

Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.

Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester.

The ethical health lawyer. Incompetent decisionmakers and withdrawal of life-sustaining treatment: a case study.

Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.

[Lethal osteogenesis imperfecta. Prenatal diagnosis].

Telomere length, telomerase activity, and expression of human telomerase reverse transcriptase mRNA in growth plate of epiphyseal articular cartilage in femoral head during normal human development and in thanatophoric dysplasia.

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report.

A case of thanatophoric dysplasia type I associated with mandibular clefting.