• "Facing"--a preliminary parameter in diagnosis of fetal skeletal abnormalities
• A case of achondrogenesis type I
• A case of achondrogenesis type IA with an occipital encephalocele
• A common pathomechanism in GMAP-210- and LBR-related diseases
• Achondrogenesis type 1A--from mouse to human
• Achondrogenesis type I
• Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype
• Achondrogenesis type II (Langer-Saldino)--a case report
• Achondrogenesis type II with cutaneous hamartomata
• Achondrogenesis type II, abnormalities of extracellular matrix
• Achondrogenesis: new nosology with evidence of genetic heterogeneity
• Antenatal diagnosis of lethal skeletal dysplasias
• Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign
• Bovine achondrogenesis: evidence for defective chondrocyte differentiation
• Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino)
• Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
• Fetal imaging in the skeletal dysplasias: overview and experience
• Hypochondrogenesis
• Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
• Lethal hypophosphatasia, spur type: case report and fetopathological study
• Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases
• Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis
• Lethal short-limbed chondrodysplasia in early infancy
• Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
• Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino)
• Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
• Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis
• Novel deep intronic and frameshift mutations causing a TRIP11-related disorder
• Prenatal sonographic diagnosis of skeletal dysplasias
• Radiologic Features of Type II and Type XI Collagenopathies
• Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• Skeletal dysplasias: 38 prenatal cases
• Sulfate in fetal development
• Sulphate in pregnancy
• Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias
• The phenotype range of achondrogenesis 1A
• Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies
• Type II Collagen Disorders Overview
• Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2