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A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). J Pediatr (1988) 1.23

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J Clin Invest (1999) 1.23

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet (1996) 1.22

Mouth and genital ulcers with inflamed cartilage: MAGIC syndrome. Five patients with features of relapsing polychondritis and Behçet's disease. Am J Med (1985) 1.22

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet (1998) 1.21

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A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. Hum Genet (1994) 1.16

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. J Med Genet (2003) 1.16

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Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet (1995) 1.15

A unique chondrodysplasia secondary to a defect in chondroosseous transformation. Birth Defects Orig Artic Ser (1977) 1.12

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet (2001) 1.12

Adenosine release from stimulated mast cells. Proc Natl Acad Sci U S A (1984) 1.11

Plasma growth hormone after arginine infusion. Clinical experiences. N Engl J Med (1967) 1.11

Peripheral subresponsiveness to human growth hormone in the African pygmies. N Engl J Med (1969) 1.11

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A new autosomal recessive lethal chondrodystrophy with congenital hydrops. Am J Med Genet (1988) 1.10

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Hypoglycaemic effect of AICAriboside in mice. Diabetologia (1996) 1.08

The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J Pediatr (1976) 1.08